Endocrinology:Reproductive

Question 1

Karyotypic abnormalities in turner amd klinefelter

Answer 1

TURNER
Paternal nondysjxn
Structural abnormality
Mosacism

KLINEFELTER
Nondysjxn(both males and female equal )
Mosaicism

Question 2

Features of klinefelter

Answer 2

Late puuberty
Gnaecomastia
Tall
Long legs
Facial, body and pubic hair diminished
Small penis
Dec testicular vol
Lower IQ

Others
CVS: MVP
DM II
Metabolic syn
AI ds
Breat ca
Osteoporosis

Question 3

Pathophysiology of klinefelter

Answer 3

1.Loss of sertoli cells lead to inc in FSH(inhibin inhibits FSH)

Inc in FSH

Inc synthesis of aromatase in leydig cells leading inc in conversion of androgen to estradiol

2.the X chromosome with the shortest CAG repeats is preferentially inactivated, leaving behind androgen receptors with longest CAG repeats.
Testosterone does not interact with androgen receptors with the longest CAG repeats,which,along with increased conversion to estradiol by aromatase, causes hypogonadism and leaves estradiol unopposed by androgen causing feminization.

Question 4

C/f in turner

Answer 4

Short stature
Cubitus valgus
Knuckle knuckle dimple knukle sign(short 4 Mt/Mc)
Shield chest
Widely soaced nipples
Underdeveloped breast
Pubic hair normal
Lymphedema of hands , feet ,neck in infancy
Webbed neck in adult
CVS: left sided heart ds
Streak gonads
Primary amenorrhea(MCC)
Horseshoe kidney

Question 5

Prenatal USG findings in turner syndrome

Answer 5

Nuchal translucency

Question 6

Most common cause of hypohonadism in males

Answer 6

Klinefelter

Question 7

Male and female pseudohermaphrodistism

Answer 7

.

Question 8

True hermaphr

Answer 8

.

Question 9

Ais

Answer 9

.