Step 1 - Repro 2

denniskwinn's version from 2015-04-25 16:17


Question Answer
Klinefelter’s syndrome1:850
Klinefelters pathogenesis1)Dysgenesis of seminiferous tubules⇣inhibin⇡FSH
2)Abnormal leydig cell function⇢⇣testosterone⇢⇡LH⇢⇡estrogen
Turner’s syndromeXO - short stature, ovarian dysgenesis, shield chest, bicuspid aortic valve, webbing of neck, preductal coarctation of aorta, most common cause of primary amenorrhea
- no barr body - ⇣ estrogen leads to ⇡ LH and FSH
Double Y malesXYY - phenotypically normal, very tall, severe acne, antisocial behavior, normal fertility
Diagnosis for Increased testosterone and LH levelsDefective androgen receptor
Diagnosis for increased testosterone and decreased LH levelsTestosterone-secreting tumor, exogenous steroids
Diagnosis for low testosterone and increased LH levelsprimary hypogonadism
Diagnosis for low testosterone and low LH levelsHypogonadotropic hypogonadism
Pseudo-Hermaphroditismdisagreement b/w phenotypic (external genitalia) andgonadal sex
Female pseudo-hermaphrodite (XX) ovaries present, but external genitalia are virilized or ambiguous. Due to excessive and inappropriate exposure to androgenic steroids during early gestation (CAH or exogenous administration of androgens during pregnancy)
Male pseudo-hermaphrodite (XY) Testes present, but external genitalia are female or ambiguous. Most common form is androgen insensitivity
True hermaphroditism 46 XX or 47XXY - both ovary and testicular tissue present: ambiguous genitalia, very rare.
5alphareductase deficiency cannot make DHT - ambiguous genitalia until puberty when ⇡ testosterone causes masculinzation/ ⇡growth of external genitalia. Testosterone/estrogen levels are normal: LH normal or high. Internal genitalia normal, penis at 12
Hydatidiform mole cystic swelling of chorionic villi and proliferation of chorionic epithelium (trophoblast) that presents with abnormal vaginal bleeding. ⇡bhCH. Honeycombed uterus, cluster of grapes, complete mole = snowstorm. Can lead to uterine rupture
Hydatidiform mole tx dilatation and curettage and methotrexate - monitor B-hCG
Complete hydatidiform mole very very high B-hCG - 46 XX or 46XY, increased uterine size, 2% convert to choriocarcinoma, no fetal parts. Made of 2 sperm and an empty egg. 15-20% malignant trophoblastic disease
Partial hydatidiform mole ⇡hCG but not super high, XXY, rare conversion to choriocarcinoma, partial fetal parts, 2 sperm + 1 egg - low risk of malignancy (<5%)
Common causes of recurrent miscarriages (3) 1st weeks (low progesterone levels - no response to B-hCG), 1st trimester -chromosomal abnormalities (robertsonian translocation). 2nd trimester - bicornuate uterus (incomplete fusion of paramesonephric ducts)
Pregnancy induced HTN (preeclampsia-eclampsia) Preeclampsia - HTN, proteinuria, edema - occurs in 7% of pregnant women from 20 wks to 6 wks post partum. Caused by placental ischemia (impaired vasodilation of spiral arteries increasing vascular tone - assoc w/HELPP syndrome
Preg induced HTN clinHeadache, blurred vision, abdominal pain, edema of face and extremities, altered mentation, hyperreflexia, lab findings may include thrombocytopenia, hyperuricemia
Preg induced HTN Tx Delivery of fetus as soon as viable. Otherwise, bed rest, salt restriction, monitoring and tx of HTN. IV MgSO4 and diazepam to prevent and treat seizures of eclampsia
Abruptio placentaepremature detachment of placenta from implantation site. Fetal death. May be associated with DIC. T risk with smoking, hypertension, cocaine use. - painful bleeding in 3rd trimester - abrupt detachment/death
Placenta accretadefective decidual layer allows placenta lo attach to myoimetrium. No separation of placenta after birth. Prior C-section. inflammation, and placenta previa predispose. - massive bleeding after delivery
Placenta previa attachment of placenta lo lower uterine segment. May occlude internal os. Mulliparily and prior C-section predispose. - painless bleeding in any trimester
ectopic pregnancy most often in fallopian tubes. Suspect with ⇡ hCG and sudden lower abdominal pain; confirm with ultrasound. Often clinicallv mistaken for appendicitis.
Retained placental tissuemay cause postpartum hemmorrhage.
Polyhydramios >1.5-2L of amniotic fluid: assoc w/esophageal/duodenal atresia, causing inability to swallow amniotic fluid and w/ancephaly
Oligohydramnios <0.5L of amniotic fluid; assoc w/placental insufficiency, bilateral renal agenesis or posteroir urethral valves (in males) and resultant inability to excrete urine, can give rise to potter’s syndrome
Cervical dysplasia and carcinoma in situ Disordered epithelial growth beginning at basal layer - may progress slowly to invasive carcinoma if left untreated.
Cervical dysplasia and carcinoma in situ risk factors multiple sexual partners, smoking, early sexual intercoursem HIV infection
Cervical Invasive carcinoma Often squamous cell carcinoma. Can be caught by PAP smear, lateral invasion can block ureters, causing renal failure
Endometriosis endometrial glands/stroma in abnormal locations outside uterus - characterized by cyclic bleeding from ectopic endometrial tissue - blood filled chocolate cysts. In ovary or on peritoneum. Manifests clinically as severe menstrual related pain. Often leads to infertility - can be due to retrograde menstrual flow
Adenomyosis endometrium within the myometrium
Endometrial hyperplasia abnormal endometrial gland prolif usually caused by excess estrogen stimulation. ⇡ risk for endometrial carcinoma. Clinically manifests as postmenopausal vaginal bleeding. Risk factors include anovulatory cycles, hormone replacement therapy, polycystic ovarian syndrome, and granulosa cell tumor
Endometrial carcinoma most common gynecologic malignancy. 55-65yrs of age. Clinically presents w/vaginal bleeding. Typically preceded by endometrial hyperplasia. Risk factors include prolonged use of estrogen w/out progestins, obesity, diabetes, HTN, nullparity, late menopause - - ⇡myometrial invasion⇢⇣prognosis
Leiomyoma (fibroid) Most common of all tumors in females. Often presents w/ multiple tumors with well demarcated borders. ⇡incidence in blacks. Rare to transform to malignancy. Estrogen sensitive - tumor size ⇡ with pregnancy, ⇣ with menopause, 20-40 yrs. May cause abnormal bleeding (could lead to anemia) - whorled patter of SM bundles.
Leiomysarcoma bulky irregularly shaped tumour w/ areas of necrosis and hemorrhage typically arising de novo (not from leiomyoma) ⇡ incidence in blacks. Highly aggressive tumor w/tendency to recur - may protrude from cervix and bleed - most commonly in middle aged women.
Gynecologic tumor incidence rates endometrial>ovarian>cervical (data pertain to US. Cervical cancer most common worldwide)
Gyn tumor worst prognosis order ovarian>cervical>endometrial
Premature ovarian failurepremature atresia of ovarian follicles - ⇣ estrogen, ⇡LH, FSH - patients present w/signs of menopause after puberty but before age 40.