Disorders of Sexual Development Flashcards
Ovotesticular DSD: Genotype
Duplication of Sox9 (46 XX)
Mutation in SRY (46 XY)
Swyer syndrome is an example of what DSD?
Ovotesticular DSD
Ovotesticular DSD: Gonad
defect in gonadal development -> ovary, testis, or ovotestes
Ovotesticular DSD: symptoms/signs
infertility
What DSD is Turner syndrome an example of?
Gonadal dysgenesis
What role do PGCs have in development of a functional ovary?
PGCs induce follicle formation
Congenital adrenal hyperplasia: Genotype
46 XX
Congenital adrenal hyperplasia: Gonad
ovary; no Y
What is the most common cause of congenital adrenal hyperplasia?
21-hydroxylase deficiency
What are the primary effects of 21-hydroxylase deficiency?
Mineralcorticoid deficiency (aldosterone) and cortisol deficiency, with concurrent build up of androgens
Congenital adrenal hyperplasia: secondary sex characteristics
variable, but tending to male
Congenital adrenal hyperplasia: symptoms/signs
low cortisol, low aldosterone (salt-wasting), high adrenal androgens, precocious puberty/failure of puberty to occur
What are genetic, gonadal, and secondary sex characteristics of Klinefelter syndrome?
47 XXY, leydig cells fail to produce sufficient testosterone, presenting with small testes, azoospermia, and gynecomastia
Androgen Insensitivity: Genotype
46 XY
Androgen Insensitivity: Gonad
testes, with testosterone and AMH production
Androgen Insensitivity: secondary sex characteristics
phenotypically female, no prostate
Androgen Insensitivity: symptoms/signs
normal male hormone levels, amenorrhea, blind ending vagina, infertility
5-alpha-reductase deficiency: genotype
46 XY
5-alpha-reductase deficiency: Gonad
Testes, makes testosterone and AMH
5-alpha-reductase deficiency: secondary sex characteristics
phenotypically female genitalia until puberty, virilization at puberty
5-alpha-reductase deficiency: symptoms/signs
decreased levels of DHT, increased T/DHT ratio
Persistant Mullerian Duct Syndrome: Genotype
46 XY
Persistant Mullerian Duct Syndrome: two causes
Sertoli cells don’t make AMH OR AMH receptor mutants don’t allow binding
Persistant Mullerian Duct Syndrome: internal genitalia
both male and female internal ducts (testes, not ovaries)
Persistant Mullerian Duct Syndrome: symptoms/signs
infertility, low/no AMH, cryptochidism
What is endometriosis?
a condition where the endometrium grows outside the uterus
What are the signs and symptoms of endometriosis?
severe pain during periods, sexual intercourse, bowel movements, nausea and chronic fatigue
What is a rhabdomyoma?
A rare benign tumor of skeletal muscle
