Klinefelter syndrome
XXY 1:850, male
presence of an inaxtivated X chromosome (barr body)
Turner syndrome
XO hugs and kisses from tina turner
Female
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
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
male pseudo hermaphrodite XY
Testes present, but external genitalia are female or ambiguous. Most common is adrogen insensitivity syndrome (testicular feminization)
aromatase deficiency
Androgen insensitivity syndrome
46XY
Y makes SRY –> testis but the testosterone it makes it cant use?
5alpha reductase deficiency
testosterone –> DHT
Kallman syndrome
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
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
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
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