sexual development disorders Flashcards
testicular atrophy eunuchoid body shape tall long extremities gynecomastia female hair distribution slight developmental delay
klinefelter
genetics of klinfelter please
XXY usually
nondisjunciton in meiosis I of either parent
BARR BODY
desribe what happens in the testes of a klinefelters patient
seminiferous tubules are destroyed and hyalinized resultin in small fir testes
inhibitin levls decreasese
leydig cells become damaged and hvae lower testosteron
name the pathos: low inhibin high FSH low testosterone high LH
klinefelter
gonadal
what are klinefelter syndrome patients at risk for
increased risk of DM II and metabolic syndrome
short stature ovarian dysgnesis shield chest lymphedema in arms, legs, neck femoral pulses < brachial pulses
turner syndrome
what is most common cause of primary amenorhea
turner syndrome
describe the genetics of turner syndrome
XO - usually fatal in utero
mosaicism of 45, XO/46XX
paternal nondysjunciton usually
can result from mitotic or meiotic error
what are complications you can see in turner patient
horseshoe kidney
bicuspid aortic valve
predutal coarctation
horseshoe kidney
bicuspid aortic valve
preductal coarctation
turner syndrome
intellingene in turner syndrome
normal
what is a double Y male
random nondisjunction event in paternal meiosis II
XYY
what are the genetics in a double Y male
random nondisjunction event in paternal meiosis II
XYY
normal fertility very tall severe acne learning disability aggressive
double Y male
what psych disorders are associated with double Y male
autism spectrum disorders
please define true hermaphroditism
ovotesticular disorder of sex development
have bot ovarian and testicular tissue present or is combine as ovotesticular tissue
external genitalia in true hermaphoditism please
ambiguous genitalia externally
what gene is responsbile for short stature in turner
SHOX
diagnose:
increased testosterone
increased LH
defective androgen receptor
diagnose:
increased testosterone
decreased LH
testosterone secreting tumor
exogenous steroids
diagnose:
decrease testosterone
increased LH
primary hypogonadism
diagnose:
decreased testosterone
decreased LH
hypogonadotropic hypogonadism
testo and LH in defective androgen receptor please
increased testosterone and increased LH
testo and LH in testosterone secreting tumor or exogenous steroids please
increased testosterone and decreased LH
testo and LH in primary hypogonadism
decreased testosterone adn icnreased LH
testo and LH in hypogonadotropic hypogonadism
decreased testosteroen and decreased LH
what is pseudohermaphroditism?
disagreement betwen the phenotypic/external genitalia and gonadal/testes vrs ovaries sex
what is femal pseudohermaphrotie
XX
ovaries
external genitalia: virilized or ambiguss
what can cause female pseudohermaphrodite
congenital adrenal hyperplasia
exogenous andrognes in pregos
adrenogenital syndrome
what is male pseudohermaphrodite
XY
testes
external genitalia: female or ambiguous
what can cause male pseudohermaphroditism
androgen insensitivity syndrome MOST COMMON
5 alpha reductase deficiency
describe geneotype and pheontypic apperance of aromatase deficiency
female XX
masculiniztaion due to lack of estrogen productino since aromatse is gone so will have ambiguous genitalia.
serum - increased testosterone and androstenedione
maternal virilization during pregnancy
aromatase deficiency
descibre the genotype and phenotype in androgen insensitivity syndrome
46 XY
testes usually in labia majora
no internal male - no androgen response in mesonephric duct
no internal female - suppressed by MIH from sertoli cells
no external male - no response to DHT
will have blunt vagina bc bottom of vagina ceoms from urogenital sinus
what causes androgen insensitivity syndrome
46 XY male with defect in androgen recptor
XLR
hormone changes in androgen sensitivity syndrome
increased testosterone
increased LH
increased estrogen
= cant have negative feedback bc receptor doesnt work
describe genotype and phenotype in 5alpha reductased deficiency
AR
46XY
cannot convert testosterone to DHT
internal: MIH and androgens cause SEED (seminal vesicles, epididymis, ejaculatory duct, ductus deferens) and suppress internal
external - ambiguous until puberty when testosterone causes masculinization and growth of external genitalia
hormones in five alpha reductased def please
testosterone normal
estrogen normal
LH increased or normal
what is kallmann sndromes pathogenesis
a form of hypogonadotropic hypogonadism
defective migration fo GnRH cells and formation fo olfactory bulb – decrease GnRH in hypothalamus - failure to complete puberyu
hormone levels in kalmann syndrome please
decreased GnRH
decreased FSH
decreased LH
decreased testosterone
fertility in kallmann syndrome please
infertility
low sperm count in males
amenorrhea in females
anosmia
infertility
kallmann syndrome
knuckle knuckle dimple knucle
turner syndrome
