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12 Cards in this Set

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  • Back
Sx of turner's
-cubitus valgus (increased carrying angle of arm)
-shield chest
-CV abnl (coarctation of aorta)
-high arched palate
-low post hairline
MC abnormality in spontaneous abortions
streak ovaries
ovaries have fibrotic bands
what can cause turner's
1. nondisjxn during meiosis
-->ovum or sperm lacks sex chrom
2. nondisjxn during mitotis after fertilization -->mosaicism
how tx?
2 or more cell lines in one individual
-i.e. XO/XY = MC

-Tx: prophylactically remove gonad (b/c 20 % of pts with Y chrom develop gonadal malignancy)
gonadal agenesis
pts with streak gonads and lack other stigmata of Turner's
-can be 46XX or 46XY
testicles in Klinefelters
-extensive hyalinzation of seminiferous tubules;
-absent spermatogenesis
what causes klinefelters
*MC=meiotic disjxn during oogenesis (more common in older moms)
EXAM: def of pseudohermaphroditism
gonadal/genetic sex is diff from genital sex
-"male" and "female" refer to GONADAL SEX, which is also the GENETC SEX
what can cause male pseudohermaphroditism
1. Deficient androgen formation (i.e. 17a-hydroxylase def)
2. *MC=Androgen Insensitivity:
*46 XY
*normal external female genitalia
(b/c no response to androgen)
*enlarged breasts
(b/c estrogen is unapposed by androgen)
*absent internal genitalia & vagina ends in blind pouch (b/c testes produced MIF)
*inc testost & LH
Tx: remove gonads (b/c pts with Y chrom have incr risk of gonadal malignancy)

3. 5a Reductase Def ("Penis at 12")
*auto rec
*no 5a reductase==>decr DHT
*46 XY
*severe hypospadias
*no Mullerian structures
*at birth: structures derived from Wollfian ducts (sem ves, ejac duct, epididymis, vas def) are nl b/c they respond to test
*but at birth, external genitalia not virilized b/c no DHT
*puberty: testosterone increases and virilizes the external genitalia
female pseudohermaphrotidism
*46 XX
*nl ovarian tissue*internal genitalia (Mullerian)
*results from deficient enzymes in steroid synthesis

1. Congenital Adrenal Hyperplasia (CAH)
*auto rec
*decr ability of adrenal gland to secrete cortisol==>incr ACTH==>shift to steroid pathway

2. **EXAM: 21-hydroxylase def
*21-hydroxylase used to syntehsize mineralocorticoids and glucocorticoids so if its deficient, shirt to make androgens: DHEA-S, androstenedione, and test
*(severe) hyponatremia, hyperkalemia, virilized ext genitalia

Tx: correct electrolyte imbalance; replace mineralocort and glucocorticoids==>decr ACTH and decr androgen secretion

3. 11B-hydroxylase def:
-this enzyme converts 11-deoxycorticosterone (11-DOC) to aldosterone;
-11-DOC is a mineralocorticoid, so no hyponatremia
-Tx: glucocorticoid replacement (no mineralocort replacement)
true hermaphroditism-def
-"coexistence of ovarian and testicular tissue"
-ambiguous external genitalia
-usually raised as males, but 70% have XX phenotype (ovulation is common, spermatogenesis is rare)