repro path part 1 Flashcards
Klinefelter syndrome
XXY 1:850, male
presence of an inaxtivated X chromosome (barr body)
- 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
Turner syndrome
XO hugs and kisses from tina turner
Female
- 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
Double Y males
XYY (1:1000)
phenotypically normal
- very tall with severe acne
- may have antisocial behavior (1-2%)
- normal fertility
- some may have autism spectrum disorders
True hermaphroditism 46XX or 47 XXY
Both ovary and testicular tissue present (ovotestis) ambiguous genitalia
VERY RARE
Diagnosing disorders of sex hormones:
increased Testosterone, increase LH
defective androgen receptor
Diagnosing disorders of sex hormones:
Increased testosterone and decreased LH
testosterone secreting tumor, exogenous steroids
Diagnosing disorders of sex hormones:
decreased testosterone, increased LH
primary hypogonadism
Diagnosing disorders of sex hormones:
decreased testosterone and decreased LH
hypogonadotropic hypogonadism
Female pseudo hermaphrodite XX
- 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)
male pseudo hermaphrodite XY
Testes present, but external genitalia are female or ambiguous. Most common is adrogen insensitivity syndrome (testicular feminization)
aromatase deficiency
- 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
Androgen insensitivity syndrome
46XY
Y makes SRY –> testis but the testosterone it makes it cant use?
- 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
5alpha reductase deficiency
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
Kallman syndrome
- 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)
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
- 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”
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
- increase in hCG
- rare to convert to choriocarcinoma
- FETAL PARTS
- 2 sperm + 1 egg
- low risk of malignancy
Gestational HTN (pregnancy–induced HTN)
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
Preeclampsia
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
Eclampsia
Preeclampsia + maternal SEIZURES
-maternal death due to stroke –> intracranial hemorrahage or ARDS
treat: antihypertensives, IV MgSO4, immediately deliver
HELLP syndrome
hemolysis elevated liver enzynes low platelets
a manifestation of severe preeclampsia, although may occur with HTN
treat: deliver immediately!
Placental abruption
- 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
Placenta accreta/increta/percreta
-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
placenta accreta
placenta attaches to myometrium without penetrating it, most common type
placenta increta
-placenta penetrates into myometrium
placenta percreta
placenta penetrates perforates though the myometrium and into the uterine serosa, can result in placental attachment to rectum or bladder
placenta previa
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
retained placental tissue
may cause postpartum hemorrhage, increase risk of infection
ectopic pregnancy
- 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
risk factors for ectopic pregnancy
history of infertility
salpingitis (PID)
ruptured appendix
prior tubal surgery
Polyhydramnios
>1.5-2L of amniotic fluid
assoc with fetal malformation
-esophageal/duodenal atresia
-anencephaly
both result in inability to swallow amniotic fluid
assoc. maternal DM, fetal anemia and multiple gestations
oligohydramnios
< 0.5 L of amniotic fluid
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
Potter sequence
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
Potter mnemonic
Pulmonary hypoplasia oligohydramnios twisted face twisted skin extremity defects renal failure (in utero)
Which HPV strains are associated with cervical dysplasia and caricinoma in situ?
HPV 16, HPV 18
which both produce E6 and E7
What does the gene product of E6 do?
inhibits P53 supressor gene
What does the gene product of E7 do?
inhibits RB supressor gene (recall retinoblastoma gene when hypophosporylated prevents G1 S1 transition) but when phosphorylated it inactivates and transition can go through
risk factors for cervical dysplasia and carcinoma in situ?
1 multiple sexual partners
smoking
early sexual intercourse
HIV infection
cervical Dysplasia and carcinoma in situ
- 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)
cervical invasive carcinoma
- 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
Endometritis
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
How to treat endometriosis (endometrial glands/stroma outside of the endometrial cavity)?
NSAIDs, OCPs, progestins, GnRH agonists, surgery.
Symptoms of endometriosis?
- cyclic pelvic pain
- bleeding
- dysmenorrhea (painful periods)
- dyspareunia (pain with intercourse)
- dyschezia (pain with defecation)
- infertility
- normal sized uterus
Endometriosis
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
Adenomyosis
- 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
Adenomyoma (polyp)
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
Endometrial hyperplasia
- 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
endometrial carcinoma
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 =(
Leiomyoma (fibroid)
- 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
Tumor incidence and prognosis
incidence endometrial> ovarian> cervical
worst prognosis ovarian> cervical> endometrial
premature ovarian failure
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
Polycystic ovarian syndrome (steinleventhal syndrome)
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
How to treat PCOS?
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
follicular cyst
- distenstion of unrupture graafian follicle
- may be assoc. w/ hyperestrogenism, and endometrial hyperplasia. Most common ovarian mass in young woman
corpus luteum cyst
hemmorhage into persistent corupus luteum, regress spontaneously
theca-lutein cyst
often bilateral/multiple. Due to gonadotropn stimulation. assoc. with choriocarcinoma and moles
hemorrhagic cyst
blood vessel rupture in cyst wall. cyst grows with increase blood retention; usually self resolves
dermoid cyst
mature teratoma, cystic growth filled with various types of tissue fat, hair, teeth bone etc grossss
endometrioid cyst
endometriosis within ovary with cyst formation
varies within menstrual cycle
when filled filled with dark, reddish-brown blood its called a chocolate cyst
