Mullerian Anomalies & Congenital Sex/Adrenal Disorders Flashcards
(20 cards)
Pathogenesis of androgen insensitivity syndrome?
46, XY
Defective androgen receptors
T in normal range
Pathogenesis of 5-a-reductase deficiency?
46, XY
Decreased conversion of T>DHT
Normal T & E levels
Pathogenesis of Swyer syndrome?
46, XY
No SRY function > no AMH > no Wolffian duct saving and Paramesonephric duct regression
Pathogenesis of Mullerian agenesis (MRKH syndrome)?
46, XX
No Müllerian duct formation
Pathogenesis of aromatase deficiency?
46, XX
No T>E conversion
Increased FSH/LH
What is the external and internal phenotype for a pt w/ Swyer syndrome?
Internal: female (streak ovaries)
External: female (+/- ambiguous)
What is the external and internal phenotype for a pt w/ androgen insensitivity syndrome?
Internal: Testes (intra-ab)
External: female, breasts (peripheral T>E conversion)
What is the external and internal phenotype for a pt w/ 5-a-reductase deficiency?
Internal: male, blind ending vagina
External: female/ambiguous
What is the external and internal phenotype for a pt w/ aromatase deficiency?
Internal: female (streak ovaries)
External: ambiguous, no breasts
*Tall stature d/t lack of E
What is the external and internal phenotype for a pt w/ Mullerian genesis?
Internal: ovaries
External: female, blind ending vagina
Pathogenesis of Kallman syndrome?
46, XX/XY: defect in Anos1 gene > impaired GnRH neuron migration
Pathogenesis of Klinefelter syndrome?
47, XXY: decreased total and free T > increased FSH/LH & SHBG
Pathogenesis of Turner syndrome?
45, XO: Primary hypogonadism > decreased E > increased FSH
What are the biochemical changes assc w/ 21-OH deficiency?
Aldosterone: decreased
Cortisol: decreased
Androgens: increased
ACTH: increased
What are the biochemical changes assc w/ 17-OH deficiency?
Aldosterone: increased
Androgens: decreased
Estrogen: decreased
What are the biochemical changes assc w/ 11-OH deficiency?
Aldosterone: decreased
Cortisol: decreased
Androgens: increased
ACTH: increased
How do 21-OH, 17-OH, and 11-OH deficiency affect BP and K status?
21-OH: HoTN + hyperK
17-OH & 11-OH: HTN + hypoK
What is the presentation for a pt w/ 17-OH deficiency?
Primary amenorrhea
No secondary sex traits
Minimal body hair
What is the presentation for a pt w/ 21-OH deficiency?
46, XY: ambiguous genitalia
46, XX: male genitalia
Adrenal crisis w/in 20d of birth
Metabolic acidosis
What is the presentation for a pt w/ 11-OH deficiency?
46, XX: ambiguous genitalia
46, XY: penile enlargement
Premature adrenarche
