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12 Cards in this Set
- Front
- Back
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Sx of turner's
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-cubitus valgus (increased carrying angle of arm)
-shield chest -CV abnl (coarctation of aorta) -high arched palate -low post hairline |
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MC abnormality in spontaneous abortions
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turner's
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streak ovaries
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ovaries have fibrotic bands
-turner's |
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what can cause turner's
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1. nondisjxn during meiosis
-->ovum or sperm lacks sex chrom 2. nondisjxn during mitotis after fertilization -->mosaicism |
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mosaic-def?
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) |
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gonadal agenesis
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pts with streak gonads and lack other stigmata of Turner's
-can be 46XX or 46XY |
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testicles in Klinefelters
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-extensive hyalinzation of seminiferous tubules;
-absent spermatogenesis |
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what causes klinefelters
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*MC=meiotic disjxn during oogenesis (more common in older moms)
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EXAM: def of pseudohermaphroditism
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gonadal/genetic sex is diff from genital sex
-"male" and "female" refer to GONADAL SEX, which is also the GENETC SEX |
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what can cause male pseudohermaphroditism
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1. Deficient androgen formation (i.e. 17a-hydroxylase def)
2. *MC=Androgen Insensitivity: *X-linked *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 |
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female pseudohermaphrotidism
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*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 *MCC of CAH *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) |
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true hermaphroditism-def
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-"coexistence of ovarian and testicular tissue"
-ambiguous external genitalia -usually raised as males, but 70% have XX phenotype (ovulation is common, spermatogenesis is rare) |
