REI Flashcards

1
Q

44yo nulligravid, not interested in pregnancy, no male partner wants to discuss fertility preservation options. Best step in management?

A

Expectant management (NOT oocyte cryopreservation)
- Clinical pregnancy rate per thawed oocyte = 4.5-12%
- At 4.5%, would need ~22 oocytes to result in one pregnancy
- Live birth rate = 2-12% for women <38yrs
- Therefore, ASRM does not recommend oocyte vitrification in those older than 38

Prolog REI - Q1

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

52yo s/p hyst+BSO at age 47 taking 0.625mg CEE daily… the complication she is at greatest risk of by continuing is?

A

Stroke (NOT VTE)
- risk of stroke vs placebo = 1.39
- VTE risk is higher, but not as high as stroke
- transdermal = decreased risk of VTE
-Combo Ez and Pg have decreased risk of colon cancer

Prolog REI - Q3

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

27yo G1P0 at 29wks with hirsutism, PCOS, and bilateral solid ovarian masses. Testosterone 804 mg/dL, DHEAS 150ng/dL, CA-125 wnl. What are the masses, and how do you manage?

A

Ovarian luteomas -> benign hyperplasia of large lutein cells by HCG
- usually regress 2-3 weeks postpartum –> EXPECTANTLY MANAGE
- yellow-brown solid tumors
- histology: round-to-polygonal cells with eosinophilic cytoplasm. Stain + for inhibin A, neg of AFP.
- other causes of gestational hyperandrogenism: drugs, sertoli-leydig, krukenberg, placental aromatase deficiency
- Luteoma vs Theca-Lutein cysts: both benign
- Luteoma: 47% bilateral, 79% fetal virilization
- Theca-Lutein: almost always bilateral, do NOT cause fetal virilization

Prolog REI - Q4

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

21yo nulligravid wants to be an egg donor. Has levonorgestrel IUD, tattoo, hx of chlamydia 6 months ago, breast cancer in maternal grandma and T2DM in father. She is ineligible to donate because…?

A

Hx of chlamydia in the last 12 months
- eligible if treated with a neg result
- Hep B, C, RPR, HIV are permanent exclusion

Prolog REI - Q6

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Primary infertility, male with urinary incontinence, ejaculatory semen volume of 0.5mL. Post ejaculatory UA showed 50 million total motile sperm and normal morphology. Most appropriate treatment for this couple’s infertility?

A

Retrograde sperm for IUI
- consider retrograde ejaculation for any semen volume <1mL
- total motile sperm count = ejaculatory volume x sperm concentration x motility

Prolog REI - Q9

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

39yo with menorrhagia, 2cm class 3 fibroid, not desiring pregnancy or surgical treatment. Most effective long-term medical management to control her heavy bleeding is?

A

Levonorgestrel-releasing IUD

  • Incidence of fibroids by age 50 = 80% in African American women and 70% in white women
  • Progestin role is unclear but ulipristal (an antiprogestin) has been showed to show decrease in size
  • GnRH agonists and antagonists have been shown 30-40% shrinkage in fibroid in first 3 months of use
  • IUD delivers 20mcg of hormone daily

Prolog REI - Q2

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

29yo with secondary amenorrhea and desire for fertility. Fam hx significant for maternal aunt and uncle with tremor/ataxia syndrome. FSH 112 and 92 1 month apart, estradiol <20, TSH, PRL and karyotype wnl. Next best lab test to order?

A

FMR1 gene premutation screening (Fragile X)

Primary ovarian insufficiency = <40yrs, at least 4 months of amenorrhea, 2 FSH concentrations in menopausal range at least 1 month apart
- most common etiology is idiopathic

Fragile X: x-linked
- FMR1 gene on long arm of X chromosome, Xq27
- CGG repeats; normal = <45, 45-54 intermediate, 55-200 premutation and assoc with POI, >200 full mutation
- 6% of women with POI will have FMR1 premutation

Other causes of POI: polyglandular autoimmune syndrome, FSH receptor mutations, Turner

Prolog REI - Q5

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

32yo with regular menses and 3yrs primary infertility. HSG with bilateral hydrosalpinx. In addition to antibiotics, next best step is…?

A

Bilateral salpingectomy

Tubal disease = 25-35% of female factor infertility and more than half result from salpingitis

Prolog REI - Q7

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

17yo with primary amenorrhea. Tanner IV breasts, Tanner I pubic/axillary hair and blind-ending vagina. Diagnosis?

A

Androgen-insensitivity syndrome
- X-linked recessive
- mutation in androgen receptor on long arm of X chromosome, Xq
- Testosterone -> dihydrotestosterone by 5 alpha reductase –> formation of penis, scrotum, and prostate
- testosterone converted to estradiol by aromatase

Swyer = phenotypically female but 46, XY with complete gonadal dysgenesis
- inactivating mutation of sex-determining region of Y gene

Klinefelter = 47, XXY
Turner = 45, XO

Prolog REI - Q8

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

28yo G1P0 with positive UPT, hx hyperprolactinemia. MRI shows pituitary macroadenoma measuring 1.2cm and abutting optic chiasm. Currently tolerating cabergoline and has mildly elevated PRL. Given current pregnancy, the most appropriate management is…?

A

Switch to bromocriptine
- both dopamine receptor agonists
- cabergoline: more potent, improved patient adherence (2x weekly dosing), and fewer adverse effects
- bromocriptine: not shown to increase congenital malformations
- cabergoline also showed to be safe, but there is much more data on bromocriptine so currently it is the preferred medication in pregnancy

  • Remember visual-field testing every trimester
  • Monitoring prolactin levels not helpful during pregnancy
  • For MICROadenoma or macro but away from optic chiasm, stop DA agonist once pregnancy confirmed. Start bromocriptine if tumor growth evident.

Prolog REI - Q10

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

33yo G2P2 5 months postpartum with heat intolerance, fatigue, and occasional palpitations. HR 110 bpm. TSH low, mildly elevated free thyroxine. Best next step?

A

Metoprolol

Postpartum thyroiditis:
- Usually 3-6 months postpartum in patient who was euthyroid before pregnancy
- prevalence 5%, likely to recur in up to 70% of subsequent pregnancies
- major risk factor: positive thyroid antibodies in first trimester +gDM
- classic form: thyrotoxicosis followed by transient hypothyroidism, then return at 12mos
- Differentiate between postpartum thyroiditis and Graves with goiter with bruit and ophthalmopathy

Prolog REI - Q11

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

38yo with primary infertility. AMH 0.75, day 3 FSH 14. Normal HSG. Partner with oligospermia, 2.2mil, 35% motility, and 1% morphology and varicocele. Best next step?

A

IVF with intracytoplasmic sperm injection (ICSI)
- NOT varicocelectomy
- Varicoceles in 15% population and 40% in infertile male population
- Most are left sided because of drainage of left spermatic vein into higher resistance left renal vein; right spermatic vein drains into vena cava
- surgical intervention when clinically palpable, established infertility, normal female, and male has 1+ abnormal semen parameters
- In example, multiple abnormal semen parameters + female 38 with diminished ovarian reserve

Prolog REI - Q12

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

48yo with irregular menses, hot flushes, night sweats. Otherwise healthy. TSH wnl. UPT neg. Next best lab test, if any?

A

NONE.
- Early menopause transition = persistent difference of 7+ days in length of consecutive cycles, fewer than 60 days of amenorrhea
- median duration of menopausal transition = 4+ years
- median onset = 47yrs

Prolog REI - Q13

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

27yo G0 with PCOS unsuccessful after 3 cycles of Clomid. Hirsutism, BMI 35, AMH 9.5. Each ovary >20 antral follicles. Semen analysis 2ml volume, 10mil/mL, 10% motility, normal morphology. Best treatment?

A

IVF and delayed frozen embryo transfer (NOT letrozole and IUI)

  • Oligoasthenospermia
  • Semen analysis shows low concentration, low motility, low volume, and only 2 million total motile sperm
  • For IUI to be successful, generally more than 10 million total motile sperm is required

Prolog REI - Q14

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

32yo G0 with hx of secondary amenorrhea for 1 year. Normal FSH, TSH. Low estradiol. Prolactin 80. MRI shows 5mm pituitary adenoma. Wants pregnancy in next 2-3 months. Next best step in management of amenorrhea?

A

Cabergoline

Prolactin >250mcg/L most likely associated with macroadenoma (>10mm)

  • Hyperprolactinemia causes amenorrhea because prolactin inhibits GnRH from hypothalamus -> low FSH/LH (FSH may be low-to-normal due to long half-life though)
  • Suppress PRL with dopamine agonists, replace estrogen with OCPs or estrogen
  • Cabergoline = first line rather than bromocriptine (higher efficacy)
  • Stop dopamine agonists when pregnancy confirmed (cross placenta)
  • Cabergoline linked to cardiac disease

Prolog REI - Q15

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

68yo with 8yr history of hair growth on face, chest, male-pattern baldness, and deepening voice. Hx PCOS. BMI 27, BP 126/78. Morning testosterone 127, FSH 98, LH 52, DHEAS 35, morning cortisol 8. TVUS showed R ovary 5x4, left 4.8x3.1. Most likely diagnosis?

A

Ovarian hyperthecosis (NOT sertoli-leydig cell tumor, CAH, or cushing syndrome)

  • The menopausal ovary continues to produce testosterone and androstenedione + decrease in sex hormone-binding globulin = relative increase in testosterone but should not cause severe hirsutism/virilization
  • Normal hair growth can include some terminal hairs on upper lip/chin but not shoulder/chest/abdomen
  • Score >8 on Ferriman-Gallway scale = hirsutism in premeno women
  • Think tumor when testosterone >200 (ovarian) and DHEAS >700 (adrenal) in premenopausal. Postmenopausal: testosterone >100
  • Most common cause of hirsutism on postmeno = ovarian source
  • tx of hyperthecosis in postmeno = BSO
  • 3 types of ovarian neoplasms that can cause hyperandrogenism: Sertoli-Leydig, lipoid cell tumor, and hilus cell tumor

Prolog REI - Q16

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

25yo with BRACA1, wants pregnancy in next 5 years. Contraceptive method that provides greatest protection against subsequent cancer is…?

A

Estrogen+progesterone OCP

BRCA1 = 65-74% lifetime risk breast cancer, 39-46% ovarian (serous or endometrioid)

OCPs can decrease risk of ovarian cancer by as much as 80% (duration of benefit unknown)
- Small but significant increase in breast cancer risk associated with OCPs, esp in BRCA, but breast cancer easier to surveil than ovarian
- Suppressing ovulation with implant would also likely decrease ovarian cancer risk but hasn’t been studied enough yet

Prolog REI - Q17

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

34yo w/ husband use donor sperm and achieve pregnancy. Couple asks whether they should disclose this to their child. Current recommendation regarding timing of disclosure is…?

A

When the child can understand

  • Current recommendation that child of adoption or anonymous donor be told before puberty so that the child can absorb the information over time

Prolog REI - Q18

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

24yo G1P0 at 6wks has vaginal bleeding. TVUS reveals nonviable pregnancy. Repeat US 1 week later the same. She requests medical management. Best single agent is?

A

Misoprostol
- PGE1 analog
- complete expulsion in 66-99% of patients
- When given 600-800mcg sublingually or vaginally, typically evacuation takes place within 24hrs
- Inadvertent use in a viable pregnancy may lead to facial, skull, and limb defects

Prolog REI - Q19

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

25yo G0 with infertility. HSG and SA wnl. AMH 0.8. Hx stage III endometriosis and multiple laparoscopies. US showed right sided mass 2x2cm, probable endometrioma. Treatment option most effective to help this patient achieve pregnancy is….?

A

IVF (NOT operative laparoscopy)
- When endo is moderate or severe and hx of multiple surgeries, IVF is most effective. Also has low AMH. IUI less effective.

  • OCPs, GnRH agonsits/antagonists are ineffective for endo-related infertility
  • Elagolix: GnRH antagonist -> short term suppression of HPO axis. Can use up to 2 years.
  • Laparoscopic ovarian cystectomy may be recommended with endometriomas >3cm in diameter

Prolog REI - Q20

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

27yo with PCOS, infertility, BMI 50, hx roux-en-y. Plans to wait 18months after surgery before pregnancy as recommended. Bicornuate uterus. Best contraception for her?

A

Etonogestrel/Ethinyl estradiol vaginal ring
- Not OCPs due to gastric bypass, not Depo due to weight gain, not IUD due to bicornuate uterus

  • Increased adipose -> increased aromatase -> increased estrogen -> HPO axis suppressed -> decreased FSH and LH -> ovulatory dysfunction
  • Insulin stimulates testosterone production through ovarian insulin-like growth factor 1 receptor -> ovulatory dysfunction

Prolog REI - Q21

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

28yo at 33wks presents with increasing facial, chest, and abdominal hair growth + voice deepening and male-pattern baldness. Testosterone 1032. US shows bilaterally enlarged ovaries, left 11x9x7 with multiple cysts with spoke-wheel appearance. Right ovary 10x8x6 with cysts. Most likely diagnosis?

A

Hyperreactio luteinalis aka theca lutein cyst (other options: hilar cell tumor, luteoma of pregnancy, sertoli-leydig tumor)

  • most common cause of hyperandrogenism in pregnancy
  • bilateral
  • most asymptomatic, 20-30% can cause hirsutism/virilization
  • luteinization and hypertrophy of ovarian thecal cells stimulated by hcg

Pregnancy luteoma: may be bilateral or unilateral, benign
- hypertrophy of ovarian stromal cells from hcg
- solid, cystic, or complex ovarian masses, multinodular, brown-yellow in color

Prolog REI - Q22

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

30yo G3P3 s/p precip delivery 6 weeks ago c/b PPH and transfusions now having fatigue, abdominal cramps, amenorrhea, and failure to lactate. Uterus 6wk size. The sign or symptom that is the best predictor of continued amenorrhea is…?

A

Failure to lactate

Sheehan syndrome:
- pituitary increases 120-136% by end of 3rd trimester
- can be life-threatening
- can cause hypotension, shock, hypoglycemia, hyponatremia, diabetes insipidus, adrenal insufficiency

Prolog REI - Q23

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

36yo G1P1 presents for contraceptive counseling. T2DM well-controlled on Metformin. BMI 29. No other medical conditions. Most appropriate contraceptive?

A

LARC (NOT OCPs, patch, or progestin-only pill)
- Combined OCPs or Depo may increase fasting blood glucose levels in women with diabetes and may exacerbate risk of VTE (patch more than OCPs)
- Progestin-only pills are safe but may have adverse effect on glucose and need daily adherence

Prolog REI - Q24

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

26yo G0 with episode of PID 6 months ago now concerned about a potential ectopic pregnancy. In this patient, the most likely pathology associated with a future ectopic pregnancy is….?

A

Fallopian tube serosal adhesions (other options being pelvic adhesions, TOA, loss of ciliated cells in fallopian tube)

PID:
- 85% caused by chlamydia, gonorrhea, or BV
- 15% from enteric or respiratory organisms colonized the lower genital tract
- Ectopic pregnancy rates after PID range from 0.6% to 9%
- After 1 infection, 12.8% will have tubal occlusion.
After 2, 35.5%.
3+ infections, 75% will have occluded fallopian tubes.

Prolog REI - Q25

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

18yo with known diagnosis of mullerian agenesis going to college and wants functional vagina. Normal external genitalia and vaginal dimple. The preferred approach to creation of a neovagina for this patient is…?

A

Dilation vaginoplasty
- safer, patient controlled, and more cost effective than surgery
- 90-96% achieve anatomic and functional success
- 10-20 min 2-3x/day with successfully increasing length and diameter of dilator size
- may take 5-12 months for functional vagina (6cm in length or capacity to have successful sexual activity)

Other procedures:
- intestinal vaginoplasty
- McIndoe procedure
- Davydov procedure (peritoneal vaginoplasty)
- Vecchietti procedure

Mayer-Rokitanski-Kuster-Hauser syndrome: ~1/5000
- 46XX, normal ovaries
- Renal and skeletal anomalies as well

Prolog REI - Q26

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

The physiologic event that induces completion of the first meiotic division of the oocyte is the…?

A

Midcycle luteinizing hormone (LH) surge

In peak reproductive years, the available follicle pool is at least 12 (capable of responding to FSH and growth).
- Dominant follicle increases its FSH receptors
- FSH stimulate aromatase activity and estradiol secretion. LH receptors acquired.

Series of events within the follicle and surrounding theca cells to prepare for ovulation:
1. First meiotic division and creation of metaphase II oocyte
2. Oocyte extruded 24-36hrs after onset of LH surge
3. Upon fertilization, second meiotic division is completed

Prolog REI - Q27

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

18 month girl referred for possible abnormality of the external genitalia. Wets diapers without difficulty and is otherwise healthy without urinary tract problems. External genitalia in picture show labial adhesions. Best next step to manage her condition is?

A

Observation (NOT topical estrogen cream)

Labial adhesions/agglutination peak incidence 3 months - 3 years
- isolated condition without other abnormalities
- low estrogen + inflammation
- generally resolve without treatment
- for symptomatic children, can use topical estrogen 1-2x/day for 2-6 weeks
- can use topical betamethasone BID x 4-6 weeks when estrogen fails

Prolog REI - Q28

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

32yo G3P3 in for annual. Uses Depo for past 3 years. 20 pack year smoking history, BMI 17. She is at increased risk of developing….?

A

Bone loss

Use 2 years or more associated with an increased fracture risk

Prolog REI - Q29

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

29yo G2P2 in for annual 18 months after uncomplicated delivery. Reports sex “not what it used to be”. Receptive to partner but rarely thinks about it herself. Does respond to foreplay. Achieves orgasm without pain. No depression. With respect to her sexual function, the most appropriate step in her management is….?

A

Reassurance
- Normal to have change in sexual response throughout various stages of life

Female sexual interest/arousal disorder DSM-5: 3 of the following for at least 6 months
- Absent or reduced interest
- Absent/reduced thoughts
- No or reduced initiation, unreceptive to partner
- Absent/reduced sexual excitement/pleasure
- Absent/reduced arousal in response to internal/external cues
- Absent/reduced genital/nongenital sensation during activity

Treatment:
- Reassurance
- Sex therapy
- Medications:
– Flibanserin: 5-hydroxytryptamine 1A agonist and 2A antagonist that decreases serotonin levels and increases dopamine/norepi levels
– short duration of testosterone therapy (insufficient data to support this)

Prolog REI - Q30

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

25yo G1 presents for first prenatal visit at 10wks gestation. Smokes 1 pack per day and would like to quit. Most effective intervention to help her is…?

A

Behavior modification counseling

Buproprion is effective and not teratogenic, but has increased risk of suicide

Prolog REI - Q31

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

28yo infertile couple presents to discuss IVF with ICSI. As a part of your counseling, you discuss that preterm delivery occurs in singleton pregnancies 9.7% of the time following IVF with ICSI compared with 7.9% after spontaneously fertilized pregnancies. The statistical term that best describes this reported increase in preterm delivery is….?

A

Absolute risk (NOT relative)
- probability that a condition will occur in a subject or population at risk of developing the condition. Often expressed as proportion.

Relative risk = ratio that compares absolute risk of a condition occurring in one group with the absolute risk of that condition occurring in another group
- in cohort studies
- 1 means that the risk is the same for study and control group. <1 = protective effect, >1 = adverse effect
- in example, 0.097/0.079 = 1.23 => 23% increase in the risk of preterm delivery following IVF with ICSI

*Review 2x2 table, sensitivity, specificity, false-positive rate, false-neg rate, prevalence, PPV, NPV, liklihood ratio, etc

Prolog REI - Q32

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

26yo G0 presents for initial infertility evaluation. Cycles 40-50 days since stopping OCPs 12 months ago, previously Q28 days. Reports fatigue, dry skin, and cold sensitivity. Delayed ankle reflexes on exam. Best next step in her evaluation is…?

A

TSH (Hypothyroidism)

Hashimoto’s aka chronic lymphocytic thyroiditis
- 5-10x more common in women than men
- TPO antibodies, high TSH, low T4

Prolog REI - Q33

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

IVF with ICSI has an increased risk of what?

A

Imprinting disorders
- Specifically mentioned Beckwith-Wiedemann and Silver-Russell.
Not with Angelman or Prader-Willi though.

  • Also associated with increased incidence of monozygotic twins (NOT dizygotic though) and lower male-to-female sex ratio

Prolog REI - Q34

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
35
Q

Newborn with ambiguous genitalia. Karyotype 46, XX. Best next lab test is?

A

17-hydroxyprogesterone (17-OHP)

CAH: most often 21-hydroxylase def
- Check karyotype, testosterone, FSH, LH, 17-OHP, AMH, electrolytes, consider imaging

Ambiguous genitalia in female with CAH can be caused by:
- 21 hydroxylase def, 11 beta-hydroxylase, or 3 beta hydroxysteroid dehydrogenase def

21-hydroxylase: CYP21A2 mutation, autosomal recessive
- 75% are salt wasting, 25% simple virilization
- hard to detect in males because they won’t have ambiguous genitalia but can have adrenal crisis

** Review cholesterol pathway

Prolog REI - Q35

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
36
Q

35yo G2P2 is desiring pregnancy with new partner. She had intrauterine microinserts placed hysteroscopically 5 years ago. Best option for her to achieve pregnancy is…?

A

IVF (NOT removal of inserts aka Essure)

Prolog REI - Q36

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
37
Q

32yo G4P0 with recurrent pregnancy loss. HSG and SIS show septate uterus. Best next step in management?

A

Operative hysteroscopy

Uterine septum = distance of >1.5cm from a line drawn between the two tubal ostia with the angle of the indentation of <90 degrees

Normal/arcuate = depth <1cm, angle >90 degrees

Bicornuate = depth >1cm

Prolog REI - Q37

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
38
Q

55yo G3P3 healthy women is interested in HRT for her menopause symptoms. In the past she was on 17B-estradiol, topical progesterone (cream and spray), and triestrogen. Of these, the one with the proven efficacy, safety, and FDA approval is…?

A

17B-estradiol

Biestrogen, triestrogen not FDA regulated

  • Evidence lacking for bioidentical hormones over conventional HRT
  • Variable bioavailability and bioactivity means underdosages and overdosage are possible
  • conventional HRT preferred

Prolog REI - Q38

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
39
Q

16yo with secondary amenorrhea, feels “fat”. BMI 16.5. No bleed after provera withdrawl. What will her LH, FSH, and morning cortisol levels look like (high, low, normal)?

A

Low LH and FSH, high cortisol
- Hypogonadotropic hypogonadism

Hypothalamic-pituitary-adrenal axis in anorexia will show elevated cortisol, often with decreased suppression after dexamethasone

DSM-5 anorexia: 1. Restriction of energy intake 2. Intense fear of gain 3. Denial of seriousness

Elevated LH, FSH, and low cortisol = hypergonadotropic hypogonadism and possible hypoadrenalism. Primary ovarian insufficiency due to polyglandular autoimmune failure syndrome.

Low LH, low-normal FSH, and low cortisol = hypogonadotropic and possibly hypoadrenalism. Evaluate pituitary. ACTH stim test.

Elevated LH, FSH, and normal cortisol = primary ovarian insufficiency

Prolog REI - Q39

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
40
Q

4yo girl with signs of puberty Tanner III breast, Tanner I pubic hair. Development rapid in past 4 months. LH elevated for age, estradiol elevated to puberty level. Most important reason to initiate treatment is to…?

A

Attain appropriate adult height
- risk of accelerated bone growth and epiphyseal closure

Precocious puberty:
- central = GnRH dependent. 90% idiopathic.
- peripheral = GnRH independent

  • girls <8yrs. Evaluate if white girls <7 and African-American <6yrs.
  • treat with GnRH agonist to down-regulate

Prolog REI - Q40

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
41
Q

41yo G3P3 underwent laparoscopic tubal ligation 8 years ago, not considering tubal reversal. Regular menses, healthy, normal semen analysis. The factor in their history that will affect most directly the likelihood of successful pregnancy after tubal reversal is…?

A

The woman’s age

  • <40yrs with normal ovarian function and male partner have pregnancy rate 70-90% at 2 years
  • if undergoing tubal anastomosis, ideally length should be greater than 5cm

Prolog REI - Q41

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
42
Q

45yo with regular menses presents for annual exam. Right-sided fullness noted on exam. US showed right simple appearing cyst, 3x3cm. No ascites. Contralateral ovary and uterus wnl. Next best step?

A

No further evaluation

Simple cysts up to 10cm are considered benign. Risk of malignancy with a unilocular cyst regardless of age is 0-1%.

Risk of ovarian cancer by age 70
BRCA1 = 69%
BRCA2 = 41-45%
Lynch = 5-10%

Prolog REI - Q42

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
43
Q

32yo G1P1 present for secondary infertility. Normal cycles with intermenstrual spotting. HSG and TVUS show polyp. Before initiating clomid, most appropriate next management option is…?

A

Hysteroscopic polypectomy

PALM-COEIN
- Prevalence of polyps in AUB = 13-50%
- Most benign, 1-3% prevalence of premalignant atypical endometrial hyperplasia in a polyp and 0.5-3% risk cancer
- RF: obesity, unopposed estrogen, tamoxifen, late menopause
- interfere with embryo receptivity and implantation

EMB if >45yrs or <45 with risk factors, failed medical management, or persistent AUB

Prolog REI - Q43

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
44
Q

45yo presents for annual exam. Regular menses. Gail Risk Assessment Model breast cancer 5-year risk score is 4%. You recommend chemoprophylaxis with tamoxifen. You counsel her that her breast cancer risk reduction after 5 years of chemoprophylaxis is…?

A

50%

Average woman’s risk of breast cancer = 12.5% (1 in 8)

Gail Risk Assessment Model :
- uses genetics Plus age at menarche, age at first birth, Fam history, race/ethnicity, and prior breast biopsies to provide 5-year and lifetime predictions.
- Premenopausal women with risk >1.7% are candidates for chemoprophylaxis (tamoxifen 20mg daily for 5 years)

Adverse effects of tamoxifen:
-2.5 fold incr risk of endometrial ca
-more extreme hot flushes
-increased vaginal discharge.

First study showed reduction by 50%
STAR trial compared raloxifene and tamoxifen. Identical efficacy.

Raloxifene is the best for postmenopausal women due to less endometrial cancer risk, but can cause ovarian stimulation in premenopausal women.

Prolog REI - Q44

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
45
Q

53yo and 54yo partner are requesting egg donation for pregnancy. Both healthy. You explain your clinic’s policy is not to transfer embryos into women older than 50 due to risks of pregnancy. The ethical principle that supports consideration of the patient’s request is…?

A

Autonomy

Beneficence = do good and benefit the patient
Justice = be fair
Nonmaleficence = do no harm

Prolog REI - Q45

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
46
Q

32yo with amenorrhea and galactorrhea, now with headaches for 2 months. Negative progesterone withdrawl. Morning fasting prolactin is 32 ng/mL, TSH wnl, HCG neg. On dilution of the blood sample, the repeat prolactin was 1,250 ng/mL. The best imaging to order is…?

A

Brain MRI

“High-dose hook effect” - circulating prolactin concentrations are so elevated that they saturate all binding sites of the assay antibodies and give falsely low results.

Prolactin:
- Anterior pituitary. Inhibited by dopamine (check for dopamine blockers such as risperidone and metoclopramide)
- circulating level is directly proportional to size of the tumor. Micro <10mm, macro >10 mm
- normal fasting prolactin = 2-25 ng/mL
- causes of prolactinoma/ hyperprolactinemia: MEN type 1, pregnancy, lactation, primary hypothyroidism, cirrhosis, kidney failure, anterior chest wall lesions
- MRI preferred imaging

Prolog REI - Q46

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
47
Q

23yo with hx of stage II endometriosis and chronic pelvic pain. Tenderness on pelvic floor muscles on exam. Desires pregnancy ASAP. Treatment strategy most appropriate to address her pain is…?

A

Pelvic physical therapy

Chronic pelvic pain: noncyclic for 6 months. Central pain sensitization.

Prolog REI - Q47

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
48
Q

32yo with 3yr history of infertility. No hx of infection, regular menses. Normal semen analysis. HSG picture given (arcuate cavity with salpingitis isthmic nodosa). Best next step in treatment of infertility?

A

IVF

Proximal fallopian tube occlusion is classified into 3 types: nodular (salpingitis isthmic nodosa, endo), non-nodular (true fibrotic occlusion), and “pseudo” occlusion (debris, polyps, hypoplastic tubes).

Etiology of SIN unknown, possibly from inflammation. More commonly on right than left side, less common bilaterally. Asymptomatic, often picked up on HSG. IVF best treatment.

Prolog REI - Q48

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
49
Q

28yo obese women with hx of complex atypical endometrial hyperplasia on progesterone therapy presents for followup. She has missed appointments and becomes belligerent with your staff when asked about past-due payments. Does not have consistent means of transportation. In addition to performing a biopsy, the best next step is referral to…?

A

Social services

Prolog REI - Q49

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
50
Q

50yo woman presenting with hot flushes several times per day, causing embarrassment and disrupting sleep. Otherwise healthy. Best next step in management?

A

Estrogen and progesterone

Vasomotor symptoms: disturbance in temperature-regulating mechanism in hypothalamus

HRT: benefits outweigh risks in healthy menopausal women who initiate HRT within 10 years of menopause or before age 60
- Risks: breast cancer and VTE primarily
- transdermal route has less VTE risk

Non-hormonal: Paroxetine

Prolog REI - Q50

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
51
Q

23yo has persistent facial hair growth, acne, and irregular menses since puberty. Tired of shaving daily. BMI 35, facial acne, dark course hair on chin, lip, abdomen, and thighs. No virilization. Normal TSH and PRL. Best lab test to confirm an adrenal cause of her condition is…?

A

17-hydroxyprogesterone (17-OHP) - NOT DHEA-s

Nonclassic congenital adrenal hyperplasia (CAH): autosomal recessive mutation in CYP21A2 gene on chromosome 6 that results in 50-80% reduction in 21-hydroxylase activity
- symptoms overlap with PCOS -> distinguish difference with 17-OHP
- Level >200 and <800 ng/dL => further test with cosyntropin (ACTH) stim test
- >800 confirms diagnosis of CAH

Both PCOS and CAH can have mildly elevated levels of androstenedione

DHEAS comes from the adrenal gland, but a tumor would present with rapid hyperandrogenism and virilization (not since puberty in example)

Prolog REI - Q51

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
52
Q

16yo sexually active girl is referred by dermatology who would like to start her on isotretinoin for acne. In addition to condoms for contraception, the hormonal contraceptive that is most likely to improve her acne is…?

A

Combined OCPs

Acne first line: benzoyl peroxide or topical retinoid.
Next: topical clindamycin and dapsone.
Next: PO tetracyclines or OCPs.
Next: Isotretinoin.

OCPs decrease androgen production and increase sex hormone-binding globulin production

Prolog REI - Q52

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
53
Q

25yo reports amenorrhea, excessive facial and abdominal hair growth, and frontal scalp balding for the last 6 months. Enlarged clitoris on exam. TVUS shows 3cm right ovarian solid mass. CT confirms and reveals normal adrenal glands. The hormone that is likely to be elevated is…?

A

Testosterone

Sertoli-Leydig cell tumor:
- sex cord stromal tumor
- typical diagnosis around age 25
- mainly unilateral
- 15-20% are malignant
- often solid
- tx = surgery

androgen-producing organs = ovaries and adrenals

DHEAS >700 => adrenal source
Testosterone >200 => ovarian source

Prolog REI - Q53

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
54
Q

17yo comes in to discuss contraception. Monthly unilateral pounding headaches associated with photophobia, a blind spot, and tingling in right arm and leg. Refuses IUD. In addition to condoms, the best choice for her contraception is….?

A

Etonogestrel implant
- LARCS best for teens
- No combined OCPs for migraines with aura

Failure rates (percentage for 100 women in first year of typical use):
- implant: 0.05%
- LNG IUD: 0.2%
- Copper IUD: 0.8%
- male sterilization: 0.15%
- female sterilization: 0.5%
- Depo: 6%
- Pill, patch, ring: 9%
- Diaphragm: 12%
- Condom: 18%
- Spermicide: 21%
- Withdrawl: 22%
- Sponge: 24% parous, 12% nullip
- Fertility based awareness: 24%
- Spermicide: 28%

Prolog REI - Q54

55
Q

38yo presents for prepregnancy counseling. Reports weight loss operation 10 years ago she can’t recall the name of. BMI 29. Lab tests reveal macrocytic anemia, a 25-hydroxyvitamin D level of 8, and albumin level of 2.5. The most likely weight loss procedure that was performed in this patient is…?

A

Roux-en-Y gastric bypass
- malabsorptive
- most common nutritional deficiencies: B12, calcium, D, folate, protein, and iron
- should have CBC, vit D, calcium, and ferritin checked each trimester of pregnancy
- have MFM, bariatric surgeon, and nutritionist on board
- Decreased risk of HTN, gDM, and macrosomia but increased prevalence of low birth weight

Prolog REI - Q55

56
Q

19yo calls your office because a partner’s condom broke during intercourse the previous night. She also had sex 4 days ago with a different partner and did not use contraception. The most appropriate and effective form of emergency contraception to prevent pregnancy in this scenario is…?

A

Ulipristal acetate (NOT copper IUD)
- Copper IUD within 5 days of intercourse is the most effective method of emergency contraception, but risk of PID and subsequent tubal damage is increased among patients with multiple sex partners therefore not the best for this patient
- copper IUD also good as it can be used in any BMI

Combined OCPs regimen: 100mcg ethinyl estradiol + 0.5mg levonorgestrel, 2 doses 12 hrs apart after intercourse. Risk of pregnancy 2.9%.

Progestin-only: 0.75m levonorgestrol, 2 doses 12 hrs apart (single dose has similar effectiveness). LNG more effective than combined OCPs and less nausea. Risk of pregnancy 1.1-2.4%

Ulipristal acetate is more effective than LNG and for up to 5 days and in women of all weights

Prolog REI - Q56

57
Q

32yo G4P4 with severe dysmenorrhea. TVUS showed enlarged uterus containing numerous anechoic myometrial lacunae and a diffuse heterogenous myometrial echotexture. Unsure on future fertility. Previous LNG IUD was expelled and she doesn’t want another. Best next step in management?

A

Continuous OCPs
- induce decidualization and subsequent atrophy of the endometrium
- progestin component suppresses aromatase and estradiol-induced vascular-endothelial growth factor and cyclooxygenase-2 expression

Adenomyosis: heterotopic endometrial glands and stroma in the uterine myometrium
- Difference in anterior and posterior myometrium thickness on US

  • Monophasic low dose OCPs have good efficacy, high tolerability, and low cost
  • LARCs also tend to work well
  • Elagolix (oral GnRH antagonist) would likely be effective but not first line due to cost

Selective progesterone modulators (mifepristone, asoprisnil, and ulipristal acetate) are on the rise and upcoming options

Prolog REI - Q57

58
Q

34yo with 2yr history of infertility. Menses occur every 3-9 weeks, some light, some heavy. Polycystic ovaries on US. She reports ovulation predictor kits are positive for 5 days each cycle and then her period comes soon after that. Most likely explanation for her positive OPK?

A

PCOS
- tonically elevated baseline LH

Ovulation:
- day 21 progesterone >3
- basal body temp rises 0.3-0.5 degrees after ovulation

OPKs:
- detect LH 24-36hrs before ovulation, will stay positive for 1-2 days

Prolog REI - Q58

59
Q

31yo with 3 yrs of infertility. Normal semen analysis and HSG. The screening test that allows for earliest detection of diminished ovarian reserve is…?

A

Antimullerian hormone
- check in all infertile women >35, unexplained infertility, hx of ovarian surgery, hx of gonadotoxic tx, and smokers
- produced by granulosa cells of preantral and small antral follicles
- play a role in transition from resting primordial follicles into growing follicles and in the recruitment of FSH-sensitive follicles
- normal 1.5-5.0, can be higher in PCOS
- predicts response of the patient to gonadotropin therapy

Antral follicles = smaller than 10mm on US.
- good ovarian reserve = 5+ antral follicles in each ovary

Prolog REI - Q59

60
Q

28yo G3P0 presents after third first-trimester loss. POC were sent for genetic testing and were normal. Normal TSH, PRL, and APS workup. Normal HSG. Karyotypes on both parents wnl. The best next step in management during her next pregnancy is…?

A

Close monitoring (not aspirin, steroids, IVIG, or LMWH)

Approx 50-75% will have negative workup for recurrent pregnancy loss
- couples with unexplained loss have a 50-60% likelihood for a successful pregnancy leading to a live birth depending on maternal age and parity

Prolog REI - Q60

61
Q

36yo G2P2 with secondary infertility and symptomatic leiomyomas causing menorrhagia and pelvic pressure. 5cm fibroid in posterior fundal wall FIGO class 2-5 and an 2cm anterior class 4 fibroid. Next best step to improve likelihood of pregnancy?

A

Myomectomy

Fibroids: Affect 70% of women by menopause, 10-15% of women with infertility
- smooth muscle monoclonal tumors
- Submucosal component (types 0, 1, 2) are associated with a decrease in clinical pregnancy rates and hysteroscopic resection is assoc/with increased fertility and decreased miscarriage rates

Prolog REI - Q61

62
Q

17yo with secondary amenorrhea. Training for Olympic trials in track and field, running 50 miles per week. BMI 18. In addition to low estradiol concentration, the hormone that is most likely to be lower than normal in this woman is…?

A

Leptin (product of adipocytes)

Female athlete triad: low energy availability, amenorrhea, low bone mineral density
- hypogonadotropic hypogonadism (low LH and FSH due to low energy availability)
- “natural birth control” - would not be conducive to survival to reproduce when food is scarce, body goes into starvation mode

  • Leptin lower than normal
  • Increased circulating cortisol and GH
  • Low insulin-like growth factor 1 (IGF)
  • TSH normal, but decreased circulating thyroxine
  • Insulin level normal

Prolog REI - Q62

63
Q

23yo with secondary amenorrhea and primary ovarian insufficiency. Fragile X premutation carrier. Most successful option for pregnancy for her?

A

Anonymous donor oocytes

POI: cessation of menses before age 40
- 6% have FMRI gene premutation

Fragile X = most common inherited form of intellectual disability
- FMRI gene on long arm of X chromosome, normal 30 CGG repeat
- Fragile X = >200 repeats
- POI 55-200
- Fragile X-associated tremor/ataxia = 55-200

Prolog REI - Q63

64
Q

16yo with primary amenorrhea, otherwise healthy. BMI 21. Tanner stage 1 breasts, stage 2 pubic hair, normal external genitalia. FSH <1, LH <0.6, estradiol <20, normal TSH and PRL. Next best step in management/diagnosis?

A

MRI of the head

Primary amenorrhea =
1) no menses by age 13 in absence of normal growth or secondary sexual characteristics
OR
2) no menses by age 15 regardless of sex characteristics
- ~25% central causes (hypogonadotropic hypogonadism)

Pubic hair development can be attributed to adrenarche from androgen production from adrenal gland

Differential for hypothalamic amenorrhea: hyperprolactinemia, craniopharyngioma, idiopathic hypogonadotropic hypogonadism, Kallman, functional hypothalamic, constitutional delay

Craniopharyngioma: benign tumor from Rathke’s pouch

Prolog REI - Q64

65
Q

10yo transgender male (natal female) presents with his parents who are requesting oocyte freezing for fertility preservation. Tanner stage 2 breast development. Parents are discussing puberty blockers (GnRH agonist) and eventual androgen therapy. The best time to freeze oocytes in this patient is…?

A

Before testosterone initiation

The Endocrine Society recommends initiating sex hormone treatment at 16 years or older for adolescents who have confirmed gender dysphoria and sufficient cognitive ability to understand the implications

Pubertal suppresion treatment does not have a long term effect on fertility / ovarian function after cessation of treatment, therefore can await preservation until after puberty but before testosterone initiation.

Also recommend wait until after puberty to confirm plan to complete transition as this is a time for further exploration.

Prolog REI - Q65

66
Q

28yo with unpredictable spotting between regular menses. TVUS showed normal uterus with endometrial echo of 16mm. Next best step in evaluation?

A

SIS (polyp)

46% of women with AUB have an intrauterine pathology.

Prolog REI - Q66

67
Q

32yo male and spouse with primary infertility. Saw his PCP for decreased libido and erectile dysfunction 4.5yrs ago. Testosterone at that time was 285. He was started on testosterone therapy. While on therapy, semen analysis showed azoospermia on 2 occasions. Exam wnl. Now testosterone is 928, FSH 1.2, LH 0.4. Next best step in management?

A

Discontinue testosterone therapy

Azoospermia: absence of sperm in ejaculated semen on two separate occasions at least 1 month apart
- Obstructive vs nonobstructive
- Exogenous steroid use can cause non-obstructive

Leydig cells of testicle produce testosterone, spermatozoa produced in seminiferous tubules

Exogenous testosterone suppresses hypothalamic and pituitary LH/FSH

Obstructive = cystic fibrosis

Prolog REI - Q67

68
Q

28yo presents with light spotting 1 day each month. Postpartum course was notable for retained placenta requiring D&C. SIS shows Asherman syndrome. The type of stem cells that presently hold the most promise in the treatment of this condition is…?

A

Bone marrow derived (not uterine)

Endometrium zones: functionalis layer and basalis layer
- Functionalis undergoes cyclic destruction and regeneration
- Basalis provides constant source of endogenous progenitor cells that replete the functionalis

Asherman: damage to basalis layer
- occurs in up to 20-25% of patients treated with D&C in postpartum period

Prolog REI - Q68

69
Q

25yo with PCOS presents with rapidly worsening hirsutism and deepening of her voice. Total serum testosterone is markedly elevated. TVUS wnl. Most appropriate lab test to order is…?

A

DHEAS
- look for adrenal tumor in rapidly worsening virilization

Prolog REI - Q69

70
Q

27yo attempting pregnancy, has regular 28 day cycles with moliminal symptoms. She has been using basal body temperature which shows a 0.5 degree elevation on cycle day 15. OPKs have been variable. The peak fertility window for this couple is…?

A

Days 9-14
- peak is 3-6 day interval ending on day of ovulation
- peak estradiol concentration 200-250

Cervical mucous becomes more thin and watery around ovulation (spinnbarkeit)

Basal body temps should be checked in the morning before arising from bed and before any activity. Small increase after ovulation.

Prolog REI - Q70

71
Q

25yo with PCOS has been taking OCPs for 6 months to treat her hirsutism. She says it has improved, but still unsatisfied despite laser hair removal. Best next step in management?

A

Spironolactone

OCPs work by stimulating hepatic sex hormone-binding globulin production (oral better than patch/ring due to first pass metabolism).

2nd line = spironolactone. Don’t need to monitor potassium in normal renal function.
- contraindicated in Addison’s disease or reduced kidney/liver function

Flutamide is as effective, but more teratogenic than spironolactone

Prolog REI - Q71

72
Q

19yo presents for contraceptive counseling. Hx of chlamydia 2 years ago, treated. She has some vaginal discharge on exam, white and clumpy. The factor that would cause you to recommend delaying placement of an IUD is…?

A

No delay recommended

Should screen for gonorrhea and chlamydia and treat if positive but not remove the IUD.
- If they have current PID or active purulent cervicitis then you should wait to place the IUD

Prolog REI - Q72

73
Q

28yo is on OCPs for dysmenorrhea. She has a history of menstrual migraines that impair her ability to work. Denies visual or neurological moliminal symptoms. She still gets her migraines during her pill-free week. Otherwise healthy. The most appropriate regimen is…?

A

Extended-cycle combined continuous OCs

Risk of stroke in women with migraine ranges from 2-6 fold
- important to distinguish migraine with aura vs without and migraines from estrogen decline

Prolog REI - Q73

74
Q

35yo G4P3 at 6+5wks presents with vaginal spotting. Hx 3 prior cesareans. US shows concern for cesarean scar ectopic. MRI confirms and shows trophoblastic tissue invading bladder. She would like to retain her fertility. Best next step in management?

A

Intrasac methotrexate

  • Other treatment options: UAE, systemic methotrexate, D&C, intrasac injection, or hysterectomy (best choice for those who have completed childbearing)
  • should do UAE prior to D&C to minimize bleeding

Prolog REI - Q74

75
Q

25yo G3P0 consults you about her recurrent pregnancy loss. No hx of DVT. Losses between 6-9 weeks gestation. Workup normal. In addition to testing her lupus anticoagulant, anticardiolipin IgG, and IgM, the lab test that is indicated is…?

A

Anti-B2-glycoprotein I antibodies

Antiphospholipid antibody syndrome: autoimmune disorder, need at least 1 clinical and 1 lab criteria:
- Clinical criteria:
1. 1+ fetal deaths of normal fetus 10wks or greater
2. 1+ premature births <34 weeks due to severe preeclampsia or FGR
3. 3+ consecutive SABs <10wks with no evidence of other causes

  • Lab criteria: 2 occasions, 12 wks apart
    1. Lupus anticoagulant
    2. Medium-to-high titer of IgG or IgM anticardiolipin antibodies
    3. Anti-b2-glycoprotein I IgG or IgM at 99th percentile
  • don’t diagnose less than 12 weeks apart or > 5 years
  • should be on heparin and ASA during pregnancy and 6wks postpartum
  • avoid estrogen contraception

Prolog REI - Q75

76
Q

32yo veterinarian has hx of bilateral salpingectomy for sterilization presents after her knee surgery was cancelled due to positive HCG preop of 85. Repeat 72hrs later was 83. LMP 8 days ago. In addition to repeat serum HCG, best next step?

A

Urine pregnancy test
- Heterophile antibodies (directed against animal antigens)

Remember HCG can also be a tumor marker for germ cell tumors of the ovary, hepatocellular carcinoma, GTN, and pineal tumors

Prolog REI - Q76

77
Q

65yo undergoing hysteroscopic polypectomy of a 2cm sessile polyp. Infusion pressure is at 75 mmHg. Reported deficit is 1500mL, but there’s a fair amount on the floor. Patient starts desaturating. Most important next step….?

A

Terminate the procedure immediately

In woman > 65 yo, max deficit should be lowered from 2500 to 1500mL.

Prolog REI - Q77

78
Q

15yo has amenorrhea and absent breasts. BMI 30. Breasts Tanner stage I, pubic hair is Tanner stage IV. Normal vaginal length. FSH 73, estradiol <20. Karyotype is 45, X/46, XY. No ovaries seen on US. Next step in management?

A

Perform laparoscopic gonadectomy

Mosaic Turner

Gonadectomy due to increased risk of gonadoblastoma
- 3-4% by age 10 in one study, upt 15-20% in another study

Start on estrogen after gonadectomy. Start low, increase every 6 months.
- Progesterone should be added when breakthrough bleeding occurs or after 2 years.
- Don’t use OCPs because they contain progestin and are associated with abnormal breast development

Prolog REI - Q78

79
Q

55yo recently started combined transdermal HRT. She read the WHI study and is concerned about heart effects. She is otherwise healthy. You counsel her that in addition to the overall reduction in mortality, the continued use of HRT is associated with a decrease in her risk of…?

A

Coronary heart disease

Original WHI said risks > benefits, but new studies have contradicted this.
- when HT is initiated close to the onset of menopause, it is protective against CAD

Estrogen on coronary arteries can be protective and disease-promoting, depending on timing.
- estrogen causes vasodilation of coronaries and prevents occlusion, but in the presence of artherosclerosis can upregulate thrombogenesis

HT in women close to menopause (within 10 years of <60yrs old) is protective against CAD and reduces all-cause mortality

Increases in breast cancer with estrogen and progesterone, relative risk 1.27

Women > 65yrs who use estrogen and progesterone for an average of 4 years had a higher incidence of dementia. Gallbladder disease also higher.

Prolog REI - Q79

80
Q

66yo presenting for well-woman. DEXA showed lumbar T-score -1.6, hip -1.9. FRAX showed 10yr hip risk 1.5%, major fracture 9%. In addition to calcium supplementation, you should recommend therapy with..?

A

Vitamin D

Low bone mass= T score less than -1 to greater than -2.5

Treatment with pharmacologic therapy is recommended if there is a 3% risk of hip, 20% risk of major fracture or both

Age:
9-18 -> Ca 1300mg, Vit D 600 IU
19-50yrs -> Ca 1000mg, Vit D 600 IU
51-70yrs -> Ca 1200mg/ Vit D 600 IU
>71+ -> CA 1200, Vit D 800 IU

Prolog REI - Q80

81
Q

26yo with PCOS, fasting glucose of 99 and could not tolerate oral glucose tolerance test. Best next test to evaluate for impaired glucose tolerance and diabetes?

A

HgbA1c

Preferred: 2hr glucose tolerance (75g)
- Normal: <140
- Impaired: 140-199
- Diabetes: >200

Second line: HgbA1c
- Normal: <5.7%
- Impaired: 5.7-6.4%
- Diabetes: >6.5%

Fasting glucose:
- Normal: <100
- Impaired: 100-125
- Diabetes: >126

PCOS affects 5-10% of women. 1/3 will have metabolic syndrome. 5-10 fold increased risk of developing T2DM.
- should test every 3-5 years for diabetes

Prolog REI - Q81

82
Q

17yo with irregular periods. Reports abdominal pain, bloating, constipation. Often uses laxatives, self-induces emesis occasionally. Mom says she goes straight to her room after eating. BMI 27. Skin dry, eyes sunken. Normal TSH and PRL. Next best step in treatment?

A

Cognitive behavioral therapy
- Bulimia nervosa: eating large amounts accompanied by loss of control and compensatory behaviors
- on average at least once a week for 3 months

Anorexia: underweight
Bulimia: normal
Binge eating: obese (no compensatory behaviors)

  • Avoid Buproprion due to higher seizure risk

Prolog REI - Q82

83
Q

28yo had emergency cesarean for fetal distress. Currently unemployed living in subsidized housing. Hx of depression and diabetes. The condition that has been associated with the risk of becoming a persistent opioid abuser is…?

A

Depression

After a cesarean, approx 1 in 300 risk of becoming persistent opioid user within 1 year

Risk factors: younger age, tobacco use, illicit drug use, psychiatric comorbidities

Prolog REI - Q83

84
Q

12yo adolescent with Tanner stage II breasts, stage I pubic hair, normal external genitalia, and a blind vagina. 46, XY. The recommended timing of removal of the gonads because of risk of malignancy is…?

A

In late adolescence

Androgen Insensitivity Syndrome: x-linked recessive
- breast development due to conversion of testosterone to estradiol by 5a-reductase
- risk of germ cell tumor is very low in childhood and puberty
- increases to up to 22% in adults (remove after puberty)

If gonadectomy performed prior to puberty, need to induce puberty with estrogen alone (don’t need progesterone, no uterus).
- Approx 15% adult women with CAIS refuse gonadectomy, preferring to have their own testosterone to estrogen production.
- No need to supplement estrogen in these patients

Prolog REI - Q84

85
Q

23yo with hx of DVT/PE 2 years ago wanting contraception. Homozygous factor V Leiden mutation. Most appropriate contraceptive for her?

A

Copper IUD

Risk of VTE in reproductive years: 1/10,000. OCP users: 2-3/10,000.

Homozygous factor V increases risk of thrombosis from 7% to 80%

Prolog REI - Q85

86
Q

2yo brought by mother due to breast development over the last 4 months. No bleeding. Growth is 75% and weight is 50%tile. Tanner stage II breasts, stage I pubic hair. Prepubertal concentrations of FSH, LH, and estradiol. The best next step to evaluate her is…?

A

Bone age (NOT MRI)

Premature thelarche: isolated breast development without other sex characteristics before age 8
- usually first 2 years of life
- gonadotropin-independent
- may be related to environmental exposures
- 2-13% progress to central precocious puberty or McCune Albright syndrome
- closely monitor every 4-6 months

Obtain bone age to rule out growth acceleration

Prolog REI - Q86

87
Q

37yo presents to discuss reversible contraception. Heavy monthly menses. She does not want anything that will cause intermenstrual bleeding. Smokes 15 cigarettes/day. BMI 35. Normal exam. Most effective method best suited for her is…?

A

Levonorgestrel-IUD

Can’t use OCPs due to smoking >35yrs

LNG-IUD may cause intermenstrual spotting in the first few months, but within 2 years 70% are oligomenorrheic and 30-40% amenorrheic.

Progestin-only is not contraindicated, but can be associated with irregular bleeding and needs to be taken at the same time every day

Prolog REI - Q87

88
Q

48yo presents with worsening sleep and adverse mood. LMP 8 months ago. Wakes up at 3am and can’t fall back asleep. Reports feelings of hopelessness, no suicidal thoughts. Most appropriate initial management for her is…?

A

SSRI medication

Menopausal transition is associated with increase in risk of depression

PHQ-2 positive score = 3.
2 questions:
- over the past 2 weeks, how often have you been bothered by…
1. little interest or pleasure in doing things
2. feeling down, depressed, or hopeless

0= not at all. 1= several days. 2 = more than half of days. 3 = nearly every day

Prolog REI - Q88

89
Q

27yo presents to ED with abdominal pain and dyspnea. Oocyte retrieval 1 week ago. WBC 24000, Hgb 15, Na 133, K 4.5, HCG 25. US shows enlarged ovaries with cysts. Most likely diagnosis?

A

Ovarian hyperstimulation syndrome
- enlarged cystic ovaries, ascites, hemoconcentration, hypercoagulability, electrolyte imbalances (hyponatremia, hyperkalemia)
- 1-5% patients undergoing IVF
- caused by increased capillary permeability and arteriolar dilation causing fluid shift
- approx 7-10 days after HCG trigger

HCG is a false positive, can be detected up to 10-12 days after egg retrieval (NOT due to pregnancy)

Prolog REI - Q89

90
Q

32yo with 3 years of primary infertility presents with her husband. Very tearful, expresses the couple has more marital distress due to infertility. For this couple, mental health therapy is likely to result in…?

A

Decreased anxiety

  • not necessarily improved fertility, but couples should be screened as this is very common and should be reassured that the stress they are experiencing is not worsening their fertility

Prolog REI - Q90

91
Q

42yo presenting for annual well-woman exam. BMI 27, waist circumference of 33in. BP 135/85. Triglycerides 120, HDL 54. Most appropriate screening interval for cardiometabolic risk factors in this patient is…?

A

Every 3 years

Routine screening ages 45+ should include diabetes screen every 3 years and lipid every 5 years

This patient is borderline metabolic syndrome and should have every 3 years.

IF metabolic syndrome, then should be monitored every 1- 2 years.

Prolog REI - Q91

92
Q

5yo girl presents with increased adult body odor, axillary hair, and pubic hair for 3 months. 17-OHP was mildly elevated at birth with normal repeat testing. Height and weight both 75%ile, normal BP, breast is Tanner stage I. Bone age is consistent with chronological age. Most likely diagnosis?

A

Premature adrenarche

Adrenarche: maturation of zona reticularis of adrenal gland that produces dehydroepiandrosterone -> converted to DHEAS
- normally begins ages 6-8yrs

Premature adrenarche: more common in girls. Presence of pubertal adrenal androgens younger than 8yrs, no other evidence of pubertal development
- associated with low birth weight, obesity, and future PCOS development
- will NOT have a growth spurt like in precocious puberty and bone age will be normal

Prolog REI - Q92

93
Q

37yo G0 has breast cancer and wants fertility preservation prior to chemo. You proceed with gonadotropin stimulation and GnRH antagonist use. You use leuprolide to trigger ovulation rather than HCG. Use of leuprolide is most likely to prevent which complication?

A

Ovarian hyperstimulation syndrome

HCG has a longer half-life than LH, increases risk of OHSS

Leuprolide (GnRH agonist) prompts release of LH. Shorter binding duration to LH receptor than HCG.

Prolog REI - Q93

94
Q

34yo with hx of ER+/PR+ breast carcinoma presents with heavy menstrual bleeding. Regular menses, changes pad and tampon every 2 hours. Hgb 8.2. Failed NSAID therapy. Next best step to medically manage?

A

TXA (NOT estrogen/progesterone containing products due to breast cancer hx)

Normal menses: 21-35 day cycle, bleeding 2-6 days. 30-60mL per cycle.
- Heavy = >80mL or >7 days

TXA reduces blood loss by 30-55%
- antifibrinolytic, blocks conversion of plasminogen to plasmin which reduces fibrinolysis
- contraindicated in hx of VTE and acquired color vision abnormalities

Prolog REI - Q94

95
Q

41yo presents with heavy menstrual bleeding and pelvic pressure. US shows 9x7cm anterior intramural fibroid. She desires uterine retention and minimally invasive approach. You counsel her that the procedure will most likely require the use of power morcellation to remove it. the most likely complication from her procedure is…?

A

Failed laparoscopy (NOT dissemination of sarcoma cells)

Minimally invasive surgery: shorter hospitalization, reduced blood loss, lower pain, lower incidence of postop ileus, shorter recovery
- complication rate 0.4-3%, technically more challenging
- does not have increased risk of visceral injury vs laparotomy but has higher urologic injuries. Vascular injuries about the same.

Uterine sarcomas account for 3-5% all malignancies. Most common leiomyosarcoma 63%.
- US FDA estimated 1 in 225 to 1 in 580 women will have occult sarcoma
- ACOG says 2 in 1,000
- annual incidence of sarcoma is 0.64 per 100,000 women

THUS, greater risk of laparoscopic complications than dissemination.
- ACOG still recommends laparoscopic approach to myomectomy with power morcellation in properly selected candidates
- Lowest incidence of sarcoma in women <35, highest >65yrs.
- ACOG advisory says the risk of unexpected leiomyosarcoma may range from less than 1 in 770 surgeries to 1 in 10,000

Prolog REI - Q95

96
Q

18yo lesbian with 2yr hx of secondary amenorrhea. Regular cycles until starting lacrosse. BMI 18. FSH 3.5, LDH 0.6, estradiol 25, normal TSH, PRL, and HCG. DEXA shows bone mineral density 2 standard deviations below the mean for her age group. In addition to nutrition counseling and CBT, next best step in managing her low bone mass is…?

A

Transdermal estradiol with cyclic oral progestin

Functional hypothalamic amenorrhea (reduced GnRH -> low FSH, LH).
- may occur with weight loss, vigorous exercise, and stress
- amenorrhea, infertility, low bone mass

Transdermal estradiol and cyclic progestin improves bone mineral density.
- Endocrine society advises against use of OCPs for sole purpose of regaining menses and improving bone density. May mask return of spontaneous menses and bone loss may continue. OCPs also downregulate insulin-like growth factor I, a bone-trophic hormone.

Bisphosphonates and SERMs should NOT be used in adolescents because they have a long half life and are retained in bone for years, therefore concern for health of a future fetus.

Prolog REI - Q96

97
Q

25yo is on combined OCPs because of a history of hypogonadotropic hypogonadism. Now interested in pregnancy. The ovulation-induction medication that is most likely to be successful given her condition is…?

A

Urinary human menopausal gonadotropins

NOT clomid, letrazole, or recombinant FSH

Clomid = SERM, acts on hypothalamus, increases gonadotropin release
Letrazole = aromatase inhibitor, prevents testosterone into estradiol and stimulates increasein FSH

Hypogonadotropic hypogonadism patients lack FSH and LH. FSH alone might not yield optimal results.

Urinary human menopausal gonadotropins contain both FSH and LH. Luteal progesterone support is also recommended and shown to improve outcomes in women undergoing gonadotropin therapy.

Prolog REI - Q97

98
Q

57yo transgender woman presents for annual and desires screening for prostate cancer. Currently on transdermal estrogen and androgen blockers for 34 years. Recommended prostate screening is…?

A

Prostate-specific antigen

Prostate cancer is rare in transgender women, especially on androgen blockers

AUA supports screening with PSA only and not digital exam.
Refer if PSA >4.

Start screening at age:
- 50 according to American Cancer Society
-55-69 from American Urological Association and USPTF

Prolog REI - Q98

99
Q

41yo presents reporting AUB. Had LNG-IUD placed 15 months ago. Had amenorrhea for 9 months, now constant light bleeding. IUD string seen at cervix on exam. UPT neg. Gc/Ct neg. Best next step for evaluation?

A

TVUS
- see if in cervix

If in the right place and bleeding not tolerable, can try NSAIDs, TXA, or estrogen

Prolog REI - Q99

100
Q

26yo presents 1 week after 7wk SAB that was managed with misoprostol vaginally. Reported expulsion and clots, followed by minimal spotting for 3 days. Afebrile, no tenderness. TVUS shows EMT 13mm with hyperechoic mass. Best next step in management?

A

Expectant management
- EMT <30mm and otherwise asymptomatic

Misoprostol: prostaglandin E1 analog

Prolog REI - Q100

101
Q

30yo G2P2 with BRCA1 mutation. Not interested in fertility. Requests BSO. Assuming she remains asymptomatic, the recommended age to perform a prophylactic gonadectomy is…?

A

35 years (NOT immediately, even though she no longer desires fertility )

BRCA1 lifetime risk of ovarian cancer 39-46% by age 70.

BRCA1 BSO between 35-40
BRCA2 40-45

Prolog REI - Q101

102
Q

15yo with primary amenorrhea. Thelarche at age 10. BMI 19. Tanner stage III breasts, stage V pubic hair. Normal genitalia. FSH is 59, low estradiol. Best next step?

A

Karyotype

Turner syndrome

Should have menarche 2 years after thelarche

Girls with Turner need estrogen to advance through puberty

Pregnancy discouraged because of risk of sudden death from aortic dissection

Prolog REI - Q102

103
Q

39yo G1P1 with enlarged uterus and heavy vaginal bleeding each month. Not interested in pregnancy, wants to avoid surgery. US showed 3 subserosal fibroids and 1 intramural, each 2-3cm. Endometrial cavity not distorted. Did not respond to TXA. Next best medical therapy?

A

Levonorgestrel-releasing IUD
- some evidence that it may shrink size

Fibroids affect 70-80% of women. Monoclonal benign smooth muscle tumors.

Max duration of GnRH agonist = 6 months

Prolog REI - Q103

104
Q

30yo G0 with PMHx of ESRD as a result from Lupus, HTN, antiphospholipid antibodies. Wants to consider pregnancy in the future but delaying for renal transplant. Best contraception for her?

A

Copper IUD

Because she has SLE and planning transplant.

However, women who undergo transplant alone (without med hx contraindications) can have all forms of contraception.

Prolog REI - Q104

105
Q

2 month old infant with ambiguous genitalia, 21 hydroxylase deficiency. Has enlarged clitoris and labiosacral fusion. Parents want to know timing of reconstructive surgery. Recommendation is to perform surgery…

A

After the child expresses gender preference. (NOT immediately)

Most common cause of genital ambiguity in a newborn female = CAH (21 hydroxylase deficiency)
- others: mixed/partial gonadal dysgenesis, partial AIS, luteoma of pregnancy, and complex urogenital abnormalities

Prolog REI - Q105

106
Q

57yo 2 years postmenopausal presenting for well-woman visit. PMHx celiac disease. BMI 19. Drinks 2 alcoholic beverages per week, no smoking. Prior normal TSH, vit D and B12 3 years ago. Best next step in her evaluation is to order…

A

DEXA

40% of people with Celiac disease will have very low bone mineral density
- Decreased absorption of calcium and vit D, plus increased osteoblastic dysfunction due to inflammation

Younger than 65 who have a DEXA that’s normal, repeat screening at 65 but no sooner than 2 years after initial screening

When to screen before age 65: hx of fragility fracture, body weight <127lbs, medical causes for bone loss, parental hx of hip fracture, current smoker, alcoholism, rheumatoid arthritis

Prolog REI - Q106

107
Q

27yo with primary infertility for 12 months. Irregular cycles. Mild hirsutism, BMI 24. Normal TSH, PRL, glucose. Normal semen analysis. OPKs have been unreliable. Best medical therapy to achieve singleton live birth is…?

A

Letrozole

Patient has PCOS

Letrozole has lower rate of multiples compared to clomid and is more effective
- Dose: 2.5mg/d for 5 days starting day 3, 4, or 5 after spontaneous or progestin-induced menses. Max dose 6.5mg/d
- pregnancy category X (both letrozole and clomid), so exclude pregnancy before use!

Clomid: dose 50mg/day, less expensive than letrozole, still effective

Tamoxifen has been studied as a fertility agent and ovulation rates have been reported as 50-90% and pregnancy rates 30-50%

Prolog REI - Q107

108
Q

37yo G0 presenting for infertility for 2 years. She had a normal workup. Husbands semen analysis showed 2.3mL, concentration of one million/mL, 40% motility, and 5% normal morphology. Normal exam. Best next step in management of their infertility is?

A

ICSI (intracytoplasmic sperm injection)

Male factor = 50% of infertility

No sperm = azoospermia
Low sperm = fewer than 15 million/mL = oligospermia
Severe oligospermia = <5 million/mL

Azoospermia and severe oligo have higher incidence of chromosomal abnormalities

Total motile sperm count = volume x concentration x motility
- in example: 2.3 x 1 x 0.4 = 0.92 million
- ideally should be >5 million
- If > 5 million, can try IUI with superovulation (more than 1 target for sperm)
- <5 million, IVF with ICSI recommended

Prolog REI - Q108

109
Q

15yo presents with heavy menses, chronic fatigue, and low ferritin. Hx of occasional epistaxis that sends her to the ER 2-3x/yr. Most likely diagnosis is…?

A

Von Willebrand disease

Menarche occurs on average 12-13yrs
Heavy menses = longer than 7 days or more than 80mL blood loss

Adolescents most common cause of heavy bleeding = anovulation due to immature HPO axis or bleeding disorders (may be present in 20-30%)

Easy bruising, epistaxis, family hx, etc

CBC, PT, PTT, VW panel
- VW panel can be affected by high doses of estrogen, recent hemorrhage, stress

Leukemia can also cause heavy menses due to platelet disfunction

Prolog REI - Q109

110
Q

29yo G1P0 at 9wks presents with heart palpitations, heat intolerance, tremors, and nausea. On exam, she has a symmetrically enlarged smooth and painless thyroid gland. TSH is 0.01 and T4 is 9.5. Best next step in the evaluation of her is to measure…?

A

TSH-receptor antibodies
- Determine Graves vs Gestational transient thyrotoxicosis

GTT: transient mild hyperthyroidism that does not require treatment with antithyroid drugs and not associated with adverse pregnancy outcomes
- more likely when there is an absence of ophthalmopathy

Graves: suspected when symptoms are before pregnancy, previous diagnosis of hyperthyroidism, and previous birth to an infant with thyroid dysfunction
- TSH-receptor antibodies present (NOT in GTT)

Prolog REI - Q110

111
Q

30yo presents with her husband requesting anonymous donor sperm due to husband having azoospermia. With regard to the issue of donor anonymity, you counsel them that the principal reason that anonymity cannot be guaranteed is because of…?

A

Direct-to-consumer DNA genetic testing

Some countries have mandated all donors be legally identifiable to offspring and parents, citing the right of offspring to know their biological origin.

Prolog REI - Q111

112
Q

29yo G0 with infertility for 18 months. Normal partner semen analysis. Normal evaluation for her. Most appropriate treatment?

A

Clomid + IUI

Unexplained infertility = 10-30%
- clomid has little to no benefit compared to expectant management for unexplained
- When clomid is combined with IUI though, fecundity increased from 2-4% to 9.5%

Prolog REI - Q112

113
Q

30yo with oligomenorrhea and hirsutism. BMI 32. Gained 60lbs since she was a teenager. Father and paternal aunt have T2DM. Best test to screen for glucose intolerance and diabetes is…?

A

75g, 2hr GTT

Oligomenorrhea = 9 or fewer periods per year or cycles occurring at intervals greater than 35 days

If 2hr GTT is normal, repeat every 2 years

Normal result = <140
Diabetes = >200
Impaired = 140-199

HgbA1c is relatively insensitive in PCOS (able to maintain euglycemia at the expense of producing enormous amounts of insulin)

Prolog REI - Q113

114
Q

48yo with hx of DCIS presents with 3 months of amenorrhea and night sweats. 30yr hx of bipolar disease, currently well-controlled. Otherwise healthy. She asks for pharmacologic relief for her night sweats. Most appropriate treatment?

A

Gabapentin

Estrogen and progesterone contraindicated due to DCIS

Paroxetine (only FDA approved non-hormonal medication) contraindicated due to bipolar and risk of triggering mania

Clonidine also an option but less data and overall has shown less effective compared to gabapentin.

Prolog REI - Q114

115
Q

32yo G1P1 with heavy menses, found to have fibroid on US. The phenomenon likely responsible for genesis of this condition is known as…?
(options: chromoplexy, chromothripsis, chromosomal instability, chromosomal translocation)

A

Chromothripsis

  • 90% of leiomyomas have detectable cytogenic rearrangements, most on chromosomes 6, 7, 12, and 14.
  • Most common mutation is MED12

Chromothripsis = single catastrophic event that results in extensive locally clustered genomic rearrangements and an oscillating pattern of DNA copy number levels. “shattering” one or a few chromosomes and “stitched” back together.

Chromoplexy = fewer unclustered rearrangements in multiple chromosomes. Cardinal feature of prostate cancer.

Prolog REI - Q115

116
Q

35yo G0 with primary ovarian insufficiency wants to pursue pregnancy with donor eggs and partner’s sperm. She is healthy. Negative infectious disease screening. The screening that is most likely to detect factors that would adversely affect her probability of live birth is…?

A

Hysterosalpingography

Prolog REI - Q116

117
Q

14yo with severe menstrual cramping on right side that persists for the duration of menstrual flow. Pain is improved but not relieved with NSAIDs. Menses every 5-6 weeks lasting 5 days. Healthy. Noted to have right renal agenesis on US when she was a fetus. No masses on abdomen. Best next step?

A

Transabdominal ultrasound

Partially obstructing mullerian anomaly (renal anomalies common)
- “Obstructed hemivagina and ipsilateral renal anomaly” OHVIRA

Urinary/genital systems arise from a common ridge of mesoderm.
- Ureters and kidneys develop in conjunction with the mesonephric ducts (Wolffian ducts) in males and paramesonephric ducts (Mullerian ducts) in females

Prolog REI - Q117

118
Q

33yo G0 with well-controlled classic 21-hydroxylase deficiency presents with her husband to discuss pregnancy. They would like to avoid having an affected offspring. The best step to assess their risk is…?

A

Genetic testing of the husband

CAH = defect in converting cholesterol to cortisol
- 90-95% occur because of autosomal recessive mutations in CYP21A2 gene on chromosome 6 (6p21)

Children of the affected female will at least be carriers since she has 2 mutated genes

Prolog REI - Q118

119
Q

32yo male and female partner present with infertility for 3 years. His exam shows testicles with decreased volume and semen analysis shows 2.1mL, 0.3million/mL, motility of 3%, and strict morphology of 1%. Normal morning testosterone, FSH 14.5, LH 5.6. Before proceeding to IVF with ICSI, the best next step is…?

A

Karyotype

  • Males with azoospermia or severe oligospermia (semen analysis <5million/mL) are at higher risk for genetic abnormalities
  • most common is 47, XXY
  • Microdeletions in Y chromosome common (AZFa, AZFb, AZFc)
  • AZFc are usually associated with severe oligospermia

Patient has primary testicular dysfunction
- spermatogenesis in seminiferous tubules and requires FSH
- testosterone produced in Leydig cells and requires LH
- this patient had testicular atrophy and elevated FSH with normal LH and testosterone

Prolog REI - Q119

120
Q

49yo with regular menses presents for well-woman exam. Mom had a hip fracture at age 66. BMI 26. Smoked half a pack of cigarettes a day for past 10 years. Best method to determine her risk of bone fracture is…?

A

FRAX tool
- determines risk over next 10 years
- for women ages 40+
- hip 3%, major 20%

DEXA:
- for women 65 yrs or age 50 with risk factors
- if done before 65 and is normal, can repeat at 65yrs but no sooner than 2 years after initial screening

Calcium: 1200, Vit D 600-800
Normal bone density: -1 or higher on DEXA
Osteoporosis: -2.5 or below

121
Q

19yo presents with amenorrhea for 6 months. Runs 50 miles per week. BMI 17. TSH and PRL normal. Estradiol 20. FSH 1.5. Next best test in managing patient is…?

A

Bone mineral density

Secondary amenorrhea = lack of menses for more than 90 days

Hypothalamic amenorrhea: low estradiol and FSH

Female athlete triad: 1. energy deficit disorder with or without eating disorder 2. menstrual disorder 3. low BMD

BMD with Z-score to compare age-matched controls. Less than -2 would be diagnosis for osteoporosis.

122
Q

35yo with family hx of breast cancer and BRCA1 mutation declines prophylactic mastectomy and salpingo-oophorectomy. In addition to biannual breast exams and annual mammograms, the patient should undergo annual breast…?

A

MRI

BRCA1 and 2 are tumor suppressors.
- 1 on Chromosome 17. Increases chance of breast cancer to 78% by age 80, ovarian cancer to 44%
- 2 on Chromosome 13
- BRCA1 and 2 account for only small percentage of breast (10%) and ovarian cancer (5%)

Recommended BSO at age 35 for BRCA1

Mammogram at age 25 with semiannual breast exam, + annual MRI (alternating 6 months)

123
Q

30yo with primary unexplained infertility with regular menses, patent fallopian tubes, and normal partner semen analysis. On Buproprion for depression, lisinopril for cHTN, pravastatin for HLD, and metformin for T2DM. 10yr smoking history. The substance or medication that most significantly affects her fertility is…?

A

Smoking
- increases infertility, increased risk of miscarriage and ectopic, and earlier menopause

  • Some studies show IVF may not overcome the reduction in fecundity that is associated with smoking
124
Q

25yo with infertility for 18months, normal workup. 6 unsuccessful cycles of clomid and considering IVF. Best type of transfer for her?

A

Single embryo (without preimplantation testing)

Preimplantation testing samples 5-8 cells from the 5-day old embryo (blastocyst). Trophoectoderm is biopsied, inner cell mass is untouched.

Pregnancy rates for women 35+ are enhanced with PGT-A, but not women younger than 35

125
Q

28yo G3P2 is planning repeat cesarean at 39wks and desires immediate tubal ligation. With regard to permanent sterilization with tubal ligation, you counsel her that she is at highest risk for….?

A

Sterilization regret
- rates from 0.9-26%, cumulative probability up to 14years 12.7%
- higher in women younger than 30 and sterilized postpartum as opposed to interval

Occlusion/resection of mid portion of tube has been associated with decreased ovarian cancer, although less effective that total salpingectomy

126
Q

Questions 126-130. Choose the treatment modality (A or B) for leiomyoma that confers the highest risk of development of pregnancy complications.

(A) Myomectomy
(B) Uterine artery embolization

  1. Miscarriage
  2. Malpresentation
  3. Preterm delivery
  4. Postpartum hemorrhage
  5. Uterine rupture
A
  1. Miscarriage - B.
  2. Malpresentation - B.
  3. Preterm delivery - B.
  4. Postpartum hemorrhage - B.
  5. Uterine rupture - A.

UAE is efficacious in 95-99% of cases. Menorrhagia improved 85-95% of patients.
- Pregnancy rates are 50% after UAE, increased miscarriage risk likely due to endometrial ischemia
- Increased malpresentation and preterm delivery is likely due to residual fibroid burden since they are often shrunk but not removed

127
Q

Questions 131-133. For each clinical scenario, choose the likely test result (A-E).

  1. A 27yo woman has a 6 month hx of amenorrhea. Would like to be pregnant. Has experienced insomnia, weight loss, occasional palpitations. On exam, has lid lag and mildly enlarged thyroid gland.
  2. A 29yo G3P0 with 3 pregnancy losses. In good health, regular menses. PRL and antithyroid peroxidase ab tests are mildly elevated. Recurrent pregnancy loss workup otherwise negative.
  3. 35yo G1P1 has 30-40day menstrual cycles, increased hair loss, fatigue, and constipation. Inconsistent results with basal body temp charting and OPKs.

(A) elevated TSH, normal free T4
(B) elevated TSH, high free T4
(C) elevated TSH, low free T4
(D) Low TSH, high free T4
(E) Low TSH, low free T4

A
  1. D
  2. A
  3. C.

Thyroid physiology:
- TSH enables iodine absorption in intestine and transports to thyroid gland
- Iodine is converted to iodide and bound to tyrosine
- Monoiodotyrosine and diiodotyrosine combine to form T4 and T3
- Free T4 is converted to T3 in liver
- T3 is responsible for most of thryoids actions on peripheral organs
- Free T4 is controlled by TSH
- TRH released by hypothalamus

Graves = most common cause of hyperthyroidism (131)
Subclinical hypothyroidism = early before signs and symptoms present (132). Small elevations in TSH can result in PRL elevations. Small doses of levothyroxine can correct to keep goal TSH <2.5
Hypothyroidism in 133

128
Q

Questions 134-137. Match the description with the appropriate hormone (A-D).

(A) Antimullerian hormone
(B) Human placental lactogen
(C) Corticotropin-releasing hormone
(D) Thyroxine (T4)

  1. Has growth hormone-like activity
  2. Total hormone concentration is increased during pregnancy; free hormone concentration is normal
  3. Corticosteroids stimulate placental production
  4. Decreases during pregnancy
A
  1. Has growth hormone-like activity - B.
  2. Total hormone concentration is increased during pregnancy; free hormone concentration is normal - D.
  3. Corticosteroids stimulate placental production - C.
  4. Decreases during pregnancy - A.

HPL is produced by the placenta, results in lipolysis and increased fatty acids in maternal and fetal circulation. Encourages development of insulin resistance.

Pregnant women remain euthyroid due to increase in T4-binding globulin

Placenta produces corticotropin-releasing hormone (believed to play a role in myometrial contractility and partuition)

AMH decreases due to ovarian suppression

129
Q

Questions 138-141. Match the clinical history with the syndrome or genetic mutation that increases risk (A-D).

(A) BRCA1 mutation
(B) BRCA2 mutation
(C) Lynch syndrome
(D) Peutz-Jeghers syndrome

  1. 35yo requests genetic counseling for cancer risk. Both mother and maternal aunt had premenopausal breast cancer, and a second maternal aunt had peritoneal carcinomatosis.
  2. 40yo presents with family hx that includes breast cancer, solid ovarian tumors, and pancreatic cancer and is noted to have perioral pigmentation.
  3. 50yo woman of Ashkenazi Jewish heritage has a mother and maternal aunt who died of breast cancer before age 50 and has an uncle with pancreatic cancer and melanoma.
  4. 35yo woman recently diagnosed with endometrial cancer. Hx of nephew who died of brain tumor and maternal aunt with biliary cancer.
A

138 - A
139 - D
140 - B
141 - C

138 - BRCA1. Males are at increased risk of prostate cancer as well.
139 - Peutz-Jeghers. Look for hypopigmentation in mouth, lips, nose, eyes, genitalia, or fingers. Increased risk of breast and ovarian cancer as well as colon hamartomas, sex cord stromal tumors, cervical, pancreatic, gastric, and uterine cancer.
140 - BRCA2. Increased pancreatic and melanoma.
141- Lynch is associated with biliary cancer and glioblastoma as well as ovarian, endometrial, colon, gastric, ureteral, and pancreatic cancer. Not generally breast although can have some types.

130
Q

Questions 142-144. A recent trial of a new screening test for tubal disease reports a positive predictive value of 45%. The prevalence of the disease in the study population was 5%. Match the description of prevalence (142-144) with the positive predictive value (PPV) of the test in this patient population (A-C).

(A) Lower
(B) Same
(C) Higher

  1. Disease prevalence of 10%
  2. Disease prevalence of 1%
  3. Disease prevalence of 20%
A
  1. C
  2. A
  3. C

Sensitivity: proportion of people with disease with a positive test result
Specificity: proportion of people without disease with a negative test result
Positive predictive value: proportion of people with positive test result who have the disease
Negative predictive value: proportion of people with negative test result who do not have the disease
Prevalence: proportion of people who have the condition

PPV and Prevalence are positively related. Increase Prevalence = increase PPV. Same for NPV.

131
Q

Questions 145-148. For each clinical scenario (145-148), choose the corresponding genetic screening (A-D).

(A) Cascade testing
(B) Concurrent carrier screening
(C) Hereditary cancer screening
(D) Sequential carrier screening

  1. A 30yo woman is a carrier for cystic fibrosis. Her husband would like to be tested before attempting pregnancy.
  2. A 24yo nulligravid woman’s sister has breast cancer and BRCA1 mutation. She has a letter from her sister’s oncologist with information on the specific BRCA1 mutation. After appropriate counseling, your patient would like to be tested for the same mutation.
  3. A couple is set to undergo IVF. After initially declining carrier screening, they have decided to be screened but do not want to postpone their IVF cycle while awaiting for confirmatory or follow-up testing.
  4. Before initiating fertility treatment, a patient reports that her sister has history of colorectal cancer and that she would like to be screened.
A
  1. D.
  2. A.
  3. B.
  4. C.
  5. Sequential carrier screening is the most cost-effective initial screening for autosomal recessive diseases. Partner testing done only if she is a carrier.
    - Concurrent carrier screening is when they are both tested at the same time, like in 147, when there are time-constraints.

Cascade testing (146) includes genetic counseling and testing for patients who have a blood relative with a specific gene mutation. Hereditary breast, ovarian cancer, and Lynch are high-priority syndromes for cascade testing.

Hereditary cancer screening (148) helps identify those at risk of developing cancer

132
Q

Questions 149-151. For each clinical scenario (149-151), choose the laboratory test (A-E) that would be most helpful in establishing a diagnosis.

(A) Cortisol
(B) Dehydroepiandrosterone sulfate (DHEAS)
(C) 17-Hydroxyprogesterone
(D) overnight dexamethasone suppression test
(E) Adrenocorticotropic hormone

  1. A 29yo G0 with secondary amenorrhea, weight gain, muscle weakness. Exam showed BP 170/95, truncal obesity, and blue-tone abdominal striae.
  2. A 23yo G0 presents with irregular menses, acne, and recent mild facial hair growth on her upper lip and chin.
  3. A 30yo multip with a history of irregular menses and hirsutism. CT of the abdomen revealed a 5cm adrenal mass.
A
  1. D
  2. C
  3. B.
  4. Random cortisol is not useful in diagnosis of Cushing due to circadian secretion. If Cushing suspected, perform one of the following tests:
    - 24hr urinary-free cortisol (2 or more tests)
    - Overnight 1mg dexamethasone suppression test
    - late night salivary cortisol (2 or more tests)
  5. Nonclassic 21-hydroxylase deficiency and PCOS can present similarly. 17-OHP to exclude late-onset CAH.
  6. DHEAS produced by adrenal gland
133
Q

Questions 152-156. For patients using combined oral contraceptive (OCs) pills, match the described action (152-156) with the corresponding hormone (A or B).

(A) Ethinyl estradiol
(B) Progestin

  1. Reduces breakthrough bleeding
  2. Increases level of sex hormone-binding globulin
  3. Increases cervical mucus thickening
  4. Increases risk of thrombosis
  5. Reduces tubal motility
A

152 - A
153 - A
154 - B
155 - A
156 - B

OCPs suppress GNRH -> suppressed FSH, LH

Estrogen: suppresses FSH, stabilizes endometrium, increases SHBG from liver and risk of thromboembolism

Progesterone: suppresses LH, thickens cervical mucus, reduces tubal motility, and renders endometrium inhospitable to the embryo

134
Q

Questions 157-160. For each clinical scenario (157-160), choose the vaginal bleeding mechanism (A-D) that is most likely to explain the clinical presentation.

(A) Estrogen breakthrough
(B) Estrogen withdrawal
(C) Progesterone breakthrough
(D) Progesterone withdrawal

  1. A 32yo G0 with PCOS has irregular cycles.
  2. A 19yo takes continuous OCPs for treatment of dysmenorrhea and experiences intermittent spotting.
  3. A 42yo multip presents with vaginal bleeding after right oophorectomy for acute intraabdominal bleeding caused by a ruptured corpus luteum cyst.
  4. A 5-day old newborn is brought to your office after her mother noticed blood in her diaper.
A
  1. A
  2. C
  3. D
  4. B.

157 - chronic anovulation, unopposed estrogen
158 - progestin component is the dominant hormone in OCPs, so the endometrium is profoundly decidualized and will be thin over time
159 - normal menstrual cycle caused by progesterone withdrawal
160 - newborn endometrium was stimulated by maternal estrogen, then withdrawn after birth