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- Inability to convert pregnenolone and progesterone to the pathways for glucocorticoid and androgen synthesis
- High levels of mineral corticoids but low levels cortisol and sex hormones
- HYPERtension, hypokalemia (have aldosterone so get sodium retention)
- XY: Male pseudohermaphrodite that is phenotypically female but has no internal reproductive structures (because MIF/AMH prohibited internal female structure development but lack of DHT could not stimulate male internal reproductive structures)
- XX: Externally phenotypically female with normal internal sex organs but no secondary sexual characteristics (no breast development)
- Inability to convert pregnenolone to aldosterone in glomerulosa and 17-hydroxypregnenolone to cortisol in fasciculata
- Low levels of mineral corticoids and cortisol with high levels of sex hormones (due to shunting)
- HYPOtension, hyperkalemia, increase renin activity, volume depletion (all from low aldosterone)
- See female pseudohermaphroditism with masculinization and ambiguous genitalia
- Inability to convert pregnenolone to aldosterone in glomerulosa and 17-hydroxypregnenolon to cortisol in fasciculata
- Have low levels of aldosterone and cortisol, but high levels of sex hormones and 11-deoxycorticosterone
- High levels of 11-deoxycorticosterone is significant because it acts as a mineralcorticoid and leads to HYPERtension in this disorder
- See masculinization
- 45, X female phenotype
- Presentation: short stature, streak ovary with infertility, shield chest, bicuspid aortic valve, and defects in lymphatics (leads to neck webbing or cystic hygroma) and lymphedema in feed and hands, preductal coarctation of aorta, horseshoe kidney, dysgerminoma, most common cause of primary amenorrhea, no barr body
- They have menopause before menarche
- Decr estrogen -> incr LH/FSH
- XXY male
- Presentation: Testicular atrophy, eunuchoi body shape, tall, long extremities, gynecomastia, female hair distribution
- May present with developmental delay
- Have barr body
- Most common cause of hypogonadism seen in infertility work up (however, all spermatocytes have normal diploid XY)
- Dysgenesis of seminiferous tubules leads to decr inhibin and incr FSH
- Abnormal Leydig cell function leads to decr testosterone, leads to incr LH, leads to incr estrogen
High testosterone and high LH is seen in what disorder?
Defective androgen receptor
High testosterone and low LH is seen in what?
Testosterone secreting tumor, exogenous steroids
Low testosterone and high LH is seen in what?
Low testosterone and low LH is seen in what?
What is pseudohermaphroditism?
Disagreement between the phenotypic (external genitalia) and gonadal (testes vs. ovaries) sex
- XX females that has ovaries but the external genitalia are virilized or ambiguous
- Caused by excessive and inappropraite exposure to androgenic steroids in early gestation (ex from congenital adrenal hyperplasia or from exogenous administration of androgens during pregnancy)
- XY male that has testes present but has either female external genitalia or ambiguous external genitalia
- Most commonly caused by androgen insensitivity syndrome (testicular feminization syndrome)
- May also be due to StAR deficiency (congenital hormone deficiency)
StAR deficiency (congenital steroid hormone deficiency)
- 46X,Y male pseudohermaphrodite with clitoromegaly, no labial fusion, and blind vaginal pouch
- Also see hyperpigmentation, lipid-laden adrenals, and hypoplastic male genital ducts
- StAR = steroidgeneic acute regulatory protein that helps transfer cholesterol across OMM to IMM in adrenals and gonads
- 46,XX or 47,XXY
- Both ovary and testicular tissue is present (ovotestis); ambiguous genitalia
- Very rare
Androgen insensitivity syndrome
- Defect in androgen receptor
- 46,XY that is a normal appearing female with female external genitalia but no cervix or uterus (usually)
- Presents with no sexual hair
- Develops testes (often found in labia majora)
- Have incr testosterone, estrogen, and LH (unlike in sex chromosome disorders)
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