sexual development disorders

Question 1

testicular atrophy
eunuchoid body shape
tall
long extremities
gynecomastia
female hair distribution
slight developmental delay

Answer 1

klinefelter

Question 2

genetics of klinfelter please

Answer 2

XXY usually
nondisjunciton in meiosis I of either parent
BARR BODY

Question 3

desribe what happens in the testes of a klinefelters patient

Answer 3

seminiferous tubules are destroyed and hyalinized resultin in small fir testes
inhibitin levls decreasese
leydig cells become damaged and hvae lower testosteron

Question 4

name the pathos:
low inhibin
high FSH
low testosterone
high LH

Answer 4

klinefelter

gonadal

Question 5

what are klinefelter syndrome patients at risk for

Answer 5

increased risk of DM II and metabolic syndrome

Question 6

short stature
ovarian dysgnesis
shield chest
lymphedema in arms, legs, neck
femoral pulses < brachial pulses

Answer 6

turner syndrome

Question 7

what is most common cause of primary amenorhea

Answer 7

turner syndrome

Question 8

describe the genetics of turner syndrome

Answer 8

XO - usually fatal in utero
mosaicism of 45, XO/46XX
paternal nondysjunciton usually

can result from mitotic or meiotic error

Question 9

what are complications you can see in turner patient

Answer 9

horseshoe kidney
bicuspid aortic valve
predutal coarctation

Question 10

horseshoe kidney
bicuspid aortic valve
preductal coarctation

Answer 10

turner syndrome

Question 11

intellingene in turner syndrome

Answer 11

normal

Question 12

what is a double Y male

Answer 12

random nondisjunction event in paternal meiosis II

XYY

Question 13

what are the genetics in a double Y male

Answer 13

random nondisjunction event in paternal meiosis II

XYY

Question 14

normal fertility
very tall
severe acne
learning disability
aggressive

Answer 14

double Y male

Question 15

what psych disorders are associated with double Y male

Answer 15

autism spectrum disorders

Question 16

please define true hermaphroditism

Answer 16

ovotesticular disorder of sex development

have bot ovarian and testicular tissue present or is combine as ovotesticular tissue

Question 17

external genitalia in true hermaphoditism please

Answer 17

ambiguous genitalia externally

Question 18

what gene is responsbile for short stature in turner

Answer 18

SHOX

Question 19

diagnose:
increased testosterone
increased LH

Answer 19

defective androgen receptor

Question 20

diagnose:
increased testosterone
decreased LH

Answer 20

testosterone secreting tumor

exogenous steroids

Question 21

diagnose:
decrease testosterone
increased LH

Answer 21

primary hypogonadism

Question 22

diagnose:
decreased testosterone
decreased LH

Answer 22

hypogonadotropic hypogonadism

Question 23

testo and LH in defective androgen receptor please

Answer 23

increased testosterone and increased LH

Question 24

testo and LH in testosterone secreting tumor or exogenous steroids please

Answer 24

increased testosterone and decreased LH

Question 25

testo and LH in primary hypogonadism

Answer 25

decreased testosterone adn icnreased LH

Question 26

testo and LH in hypogonadotropic hypogonadism

Answer 26

decreased testosteroen and decreased LH

Question 27

what is pseudohermaphroditism?

Answer 27

disagreement betwen the phenotypic/external genitalia and gonadal/testes vrs ovaries sex

Question 28

what is femal pseudohermaphrotie

Answer 28

XX ovaries external genitalia: virilized or ambiguss

Question 29

what can cause female pseudohermaphrodite

Answer 29

congenital adrenal hyperplasia exogenous andrognes in pregos adrenogenital syndrome

Question 30

what is male pseudohermaphrodite

Answer 30

XY testes external genitalia: female or ambiguous

Question 31

what can cause male pseudohermaphroditism

Answer 31

androgen insensitivity syndrome MOST COMMON | 5 alpha reductase deficiency

Question 32

describe geneotype and pheontypic apperance of aromatase deficiency

Answer 32

female XX | masculiniztaion due to lack of estrogen productino since aromatse is gone so will have ambiguous genitalia.

Question 33

serum - increased testosterone and androstenedione | maternal virilization during pregnancy

Answer 33

aromatase deficiency

Question 34

descibre the genotype and phenotype in androgen insensitivity syndrome

Answer 34

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

Question 35

what causes androgen insensitivity syndrome

Answer 35

46 XY male with defect in androgen recptor | XLR

Question 36

hormone changes in androgen sensitivity syndrome

Answer 36

increased testosterone increased LH increased estrogen = cant have negative feedback bc receptor doesnt work

Question 37

describe genotype and phenotype in 5alpha reductased deficiency

Answer 37

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

Question 38

hormones in five alpha reductased def please

Answer 38

testosterone normal estrogen normal LH increased or normal

Question 39

what is kallmann sndromes pathogenesis

Answer 39

a form of hypogonadotropic hypogonadism defective migration fo GnRH cells and formation fo olfactory bulb -- decrease GnRH in hypothalamus - failure to complete puberyu

Question 40

hormone levels in kalmann syndrome please

Answer 40

decreased GnRH decreased FSH decreased LH decreased testosterone

Question 41

fertility in kallmann syndrome please

Answer 41

infertility low sperm count in males amenorrhea in females

Question 42

anosmia | infertility

Answer 42

kallmann syndrome

Question 43

knuckle knuckle dimple knucle

Answer 43

turner syndrome