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organ systems > repro path part 1 > Flashcards

repro path part 1 Flashcards

1
Q

Klinefelter syndrome
XXY 1:850, male
presence of an inaxtivated X chromosome (barr body)

A
  • dysgenesis of seminiferous tubules (fibrosis, hyalinization)–> decreased inhibin –> increased FSH
  • abnormal leydig cells –> decreased testosterone –> increase LH–> increased estrogen instead
  • testicular atrophy
  • eunuchoid body shape (think eunuch, lacks sexual diffn)
  • gynocomastia
  • female hair distribution
  • long extremities
  • may have development delay
  • common cause of hypogonadism seen in infertility work up
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2
Q

Turner syndrome
XO hugs and kisses from tina turner
Female

A
  • Can result from a mitotic or meiotic error.
  • can be complete monosomy 45 XO or mosaicism (45 XO/46XX)

presentation:
short stature
ovarian dysgenesis (streak ovary, connective tissue but no ovary present)
shield chest and widespaced nipples
bicuspid aortic valve, precutal coarctation (femoral < brachial pusle, notched ribs)
-lymphatic defects (result in a webbed neck or cystic hygroma_
-lymphadema in feet and hands
-high arched palate
-horse shoe kidney

most common cause of primary amenorrhea
no barr body
can have babies by oocyte donation and exogenous estradiol and progesterone

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3
Q

Double Y males

XYY (1:1000)

A

phenotypically normal

  • very tall with severe acne
  • may have antisocial behavior (1-2%)
  • normal fertility
  • some may have autism spectrum disorders
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4
Q

True hermaphroditism 46XX or 47 XXY

A

Both ovary and testicular tissue present (ovotestis) ambiguous genitalia
VERY RARE

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5
Q

Diagnosing disorders of sex hormones:

increased Testosterone, increase LH

A

defective androgen receptor

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6
Q

Diagnosing disorders of sex hormones:

Increased testosterone and decreased LH

A

testosterone secreting tumor, exogenous steroids

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7
Q

Diagnosing disorders of sex hormones:

decreased testosterone, increased LH

A

primary hypogonadism

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8
Q

Diagnosing disorders of sex hormones:

decreased testosterone and decreased LH

A

hypogonadotropic hypogonadism

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9
Q

Female pseudo hermaphrodite XX

A
  • ovaries present
  • but external genitalia are virilized or ambiguous
  • due to excessive and in appropriate exposure to androgenic steroids during early gestation (congenital adrenal hyperplasia or exogenous administration of adrogens during pregnancy)
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10
Q

male pseudo hermaphrodite XY

A

Testes present, but external genitalia are female or ambiguous. Most common is adrogen insensitivity syndrome (testicular feminization)

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11
Q

aromatase deficiency

A
  • inability to synthesize estrogens from androgens
  • masculinization of femal 46XX infants –> ambigous genitalia
  • increase serum testosterone and androstenedione
  • can present with maternal virilization during pregnancy as fetal androgens can cross the placenta
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12
Q

Androgen insensitivity syndrome
46XY
Y makes SRY –> testis but the testosterone it makes it cant use?

A
  • defect in androgen receptor resulting in normal appearing female; female external genitalia and a rudimentry vagina.
  • uterus and fallopian tubes are generally absent
  • presents with scant sexual hair
  • developed testis (often found in the labia major–> surgically removed to prevent malignancy)
  • increased testosterone and estrogen and LH
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13
Q

5alpha reductase deficiency

A

testosterone –> DHT

  • autosomal recessive
  • 46XY, inability to make DHT
  • ambigous genitalia until puberty (recall DHT helps the external genitalia develop)
  • at puberty the increased testosterone causes masculinization/growth of external genitalia
  • testosterone and estrogen levels are nomral, LH is normal or up and internal genitalia are normal
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14
Q

Kallman syndrome

A
  • a form of hypogonadotropic hypogonadism
  • failure to complete puberty
  • defective migration of GnRH cells and formation of the olfactory bulb
  • decreased synthesis of GnRH in the hypothalamus; anosmia ; decrease GnRH, FSH, LH, testosterone
  • infertility (low sperm count in males and ammenohrea in females)
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15
Q

Complete mole 46 XX or 46 XY

cystic swelling of chorionic villi and proliferation of chorionic epithelium (only trophoblast). Treatment dilation, curettage and methotrexate, monitor b-hCG

A
  • super increased hCG
  • inceased uterine size
  • 2% risk of conversion to choriocarcinoma
  • no fetal parts
  • enucleated egg + single sperm (subsequently duplicates paternal DNA or empt egg + 2 sperms (rare)
  • risk of complications 15-25% malignant trophoblastic disease

symptoms:
vaginal bleeding, enlarged uterus, hyperemesis, preclampsia, hyperthyroidism
imaging:
honeycomb uterus or “cluster of grames” “snowstorm on ultrasound”

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16
Q

partial mole 69 XXX, 69 XXY or 69XYY

cystic swelling of chorionic villi and proliferation of chorionic epithelium (only trophoblast). Treatment dilation, curettage and methotrexate, monitor b-hCG

A
  • increase in hCG
  • rare to convert to choriocarcinoma
  • FETAL PARTS
  • 2 sperm + 1 egg
  • low risk of malignancy
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17
Q

Gestational HTN (pregnancy–induced HTN)

A

BP >140/90 after 20th week of gestation, no pre-existing HTN, no proteinuria or end organ damage

treat: anti hyptertensives like alpha-methyldopa, labetalol, hydralazine, nifedipine), deliver at 39 weeks

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18
Q

Preeclampsia

A

HTN >140/90
proteinura >300mg/34 hour after the 20th week of gestation to 6 weeks postpartum (160/110 BP with or without end organ damage, headache, scotoma, oliguria, increased AST/ALT, thrombocytopenia.
caused by:
abnormal placental spiral arteries, results in maternal endothelial dysfunction, vasoconstriction, or hyperreflexia

increased incidence with patients:
HTN, DM, CKD, AI disorders

complications:
placental abruption, coagulapathy, renal failure, uteroplacental insufficiency, or eclampsia

treat: antihypertensives, deliver at 34 weeks severe or 37 weeks for mild. IV MgSO4 to prevent seizures

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19
Q

Eclampsia

A

Preeclampsia + maternal SEIZURES
-maternal death due to stroke –> intracranial hemorrahage or ARDS

treat: antihypertensives, IV MgSO4, immediately deliver

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20
Q

HELLP syndrome

A 
hemolysis
elevated
liver enzynes
low 
platelets

a manifestation of severe preeclampsia, although may occur with HTN

treat: deliver immediately!

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21
Q

Placental abruption

A
  • premature separation partial or complete from uterine wall before deliver
    comple: concealed hemmorage
    partial: apparent hemorrage

risk factors: trauma, smoking, HTN, preeclampsia, cocaine abuse
presentation: abrupt, painful bleeding in third trimester, possible DIC, maternal shock, fetal distress,

life threatening for mother and fetus

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22
Q

Placenta accreta/increta/percreta

A

-defective decidual layer –> abnormal attachment and separation after delivery.
risk factors: prior C section, inflammation, placenta pre via

presentation: no separation of placenta after delivery –> massive bleeding, life threatning for mother

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23
Q

placenta accreta

A

placenta attaches to myometrium without penetrating it, most common type

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24
Q

placenta increta

A

-placenta penetrates into myometrium

25
Q

placenta percreta

A

placenta penetrates perforates though the myometrium and into the uterine serosa, can result in placental attachment to rectum or bladder

26
Q

placenta previa

A

attachement of placenta lower utererine segment, lies near or partially covers or completely covers the internal cervical opening.
risk factors: multiparty and prior c section

27
Q

retained placental tissue

A

may cause postpartum hemorrhage, increase risk of infection

28
Q

ectopic pregnancy

A
  • most often in the ampulla of fallopian tube
  • suspect with a history of amenorrhea, lower than expected rise in hCG based on dates, and sudden lower abdominal pain; confirm with ultrasound. Often clinically mistaken for appendicitis
  • pain with our without bleeding
29
Q

risk factors for ectopic pregnancy

A

history of infertility
salpingitis (PID)
ruptured appendix
prior tubal surgery

30
Q

Polyhydramnios

>1.5-2L of amniotic fluid

A

assoc with fetal malformation
-esophageal/duodenal atresia
-anencephaly
both result in inability to swallow amniotic fluid
assoc. maternal DM, fetal anemia and multiple gestations

31
Q

oligohydramnios

< 0.5 L of amniotic fluid

A

assoc. with placental insufficiency, bilateral renal a genesis, or posterior urethral valves (in males) and resultant inability to excrete urine. Any profound oligohydramnios can cause Potter sequence

32
Q

Potter sequence

A

oligohydramnios leads to compression of developing fetus –> limb deformities, facial anomalies
-low set ears and retrognathia and compression of chest –> pulmonary hypoplasia ( which is the cause of death)
causes include: ARPKD, posterior urethral valves, bilateral renal angenesis

33
Q

Potter mnemonic

A 
Pulmonary hypoplasia
oligohydramnios
twisted face
twisted skin
extremity defects
renal failure (in utero)
34
Q

Which HPV strains are associated with cervical dysplasia and caricinoma in situ?

A

HPV 16, HPV 18

which both produce E6 and E7

35
Q

What does the gene product of E6 do?

A

inhibits P53 supressor gene

36
Q

What does the gene product of E7 do?

A

inhibits RB supressor gene (recall retinoblastoma gene when hypophosporylated prevents G1 S1 transition) but when phosphorylated it inactivates and transition can go through

37
Q

risk factors for cervical dysplasia and carcinoma in situ?

A

1 multiple sexual partners

smoking
early sexual intercourse
HIV infection

38
Q

cervical Dysplasia and carcinoma in situ

A
  • disorded epithelial growth, begins at the basal layer of squamocolumnar junction (transition zone) and extends outwards
  • CIN 1, 2, 3, classification
  • assoc HPV 16, 18
  • typically asymptomatic, or presents with abnormal bleeding (post coital)
39
Q

cervical invasive carcinoma

A
  • often squamous cell carcinoma
  • pap smear can catch cervical dysplasia (kilobytes which are wrinkled, raisinoid nuclei, some of which have clearning or perinulcelar halo) before it progresses to invasive carcinoma
  • lateral invasion can block ureters causing renal failure
40
Q

Endometritis

A

inflammation of the endometrium (with plasma cells and lymphocytes)
-associated with retained products of conception following delivery (vaginal/c section)/miscarriage/abortion or foreign body such as an IUD. Retained material in uterus promotes infection by bacterial flora from vaginal or intenstinal tract

treat: gentamicin and clindamycin with or without ampicillin

41
Q

How to treat endometriosis (endometrial glands/stroma outside of the endometrial cavity)?

A

NSAIDs, OCPs, progestins, GnRH agonists, surgery.

42
Q

Symptoms of endometriosis?

A
  • cyclic pelvic pain
  • bleeding
  • dysmenorrhea (painful periods)
  • dyspareunia (pain with intercourse)
  • dyschezia (pain with defecation)
  • infertility
  • normal sized uterus
43
Q

Endometriosis

A

non neoplastic endometrial glands/stroma outside of the endometrial cavity

  • can be found anywhere!!! ovary, pelvis, peritoneum
  • if ovary “blood filled chocolate cyst”
  • can be due to retrograde flow, metaplastic transformation of multipotent cells or transportation of endometrial tissue via the lymphatic system
44
Q

Adenomyosis

A
  • extension of the endometrial tissue (adeno glandular) into the uterine myometrium.
  • caused by hyperplasia of the basalis layer of the endometrium
  • cause dysmenorrhea, menorrhagia
  • uniformly ENLARGED soft globular uterus
    treat: hysterectomy
45
Q

Adenomyoma (polyp)

A

well circumscribed collection of endometrial tissue within the uterine wall, may contain smooth muscle cells, can extend into the endometrial cavity in the form of a polyp

46
Q

Endometrial hyperplasia

A
  • abnormal endometrial gland proliferation usually caused by excess estrogen stimulation.
  • increase risk for endometrial carcinoma
  • manifests as postmenopausal vagina bleeding

risk factors:
-anovulatroy cycles, hormone replacement therapy, polycystic ovarian syndrome and granulosa cell tumor

47
Q

endometrial carcinoma

A 
MOST COMMON  gynecologic malignancy
-55-65 years peak
-vaginal bleeding
-typically preceeeded by hyperplasia
risk factors: prolonged use of estrogen without progestins, obesity, diabetes, HTN, nulliparity (never given birth) and late menopause, 
-myometrial invasion, bad prognosis =(
48
Q

Leiomyoma (fibroid)

A
  • most common tumor in females
  • multiple discrete tumors
  • more common in blacks
  • benign smooth muscle tumor, malignant transformation is RARE
  • estrogen sensitive so increase in pregnancy, decreases in menopause
  • 20-40 years old
  • may cause uterine bleeding, result in miscarriage
  • severe bleeding could cause iron deficiency anemia
  • WHORLED PATTERN OF SMOOTH MUSCLE BUNDLES with well demarcated borders
49
Q

Tumor incidence and prognosis

A

incidence endometrial> ovarian> cervical

worst prognosis ovarian> cervical> endometrial

50
Q

premature ovarian failure

A

premature atresia of ovarian follicles in women of reproductive age. Patients present with signs of menopause after puberty but before age 40
-decrease estrogen, but increase LH and FSH

51
Q

Polycystic ovarian syndrome (steinleventhal syndrome)

A

Characterized by increase LH and low FSH (LSH:FSH >2)

  • increased LH induces excess androgen production (from theca cells) resulting in hirsutism
  • the androgens are converted to estrone in adipose tissue
  • high estrone levels feedback decreases FSH resulting in cystic degeneration of follicles

presentation:
enlarged bilateral cystic ovaries, amenorrhea/oligomenorrhea, hirutism, acne, infertility
some patients have insulin resistance and may develop DM type 2

assoc:
obesity
increased risk for endometrial cancer

52
Q

How to treat PCOS?

A

hirsutism and acne: weight reduction, OCP (which increase estrogen SHBG and decrease LH and decrease free testosterone)

infertility: clomiphene citrate (blocks negative feedback of estrogen on the hypothalamus)

insulin insensitivity: metformin

endometrial protection: cyclic progesterones to antagonize endometrial proliferation

53
Q

follicular cyst

A
  • distenstion of unrupture graafian follicle

- may be assoc. w/ hyperestrogenism, and endometrial hyperplasia. Most common ovarian mass in young woman

54
Q

corpus luteum cyst

A

hemmorhage into persistent corupus luteum, regress spontaneously

55
Q

theca-lutein cyst

A

often bilateral/multiple. Due to gonadotropn stimulation. assoc. with choriocarcinoma and moles

56
Q

hemorrhagic cyst

A

blood vessel rupture in cyst wall. cyst grows with increase blood retention; usually self resolves

57
Q

dermoid cyst

A

mature teratoma, cystic growth filled with various types of tissue fat, hair, teeth bone etc grossss

58
Q

endometrioid cyst

A

endometriosis within ovary with cyst formation
varies within menstrual cycle
when filled filled with dark, reddish-brown blood its called a chocolate cyst

organ systems (25 decks)

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