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Sexual Development

Disorders of Sexual Development

Disorders of Sexual Differentiation (DSD) ? * 46, XY DSD - male pseudohermaphrodite, *46, XX DSD - female pseudohermaphrodite, *Ovotesticular DSD - true hermaphrodite, *46, XX testicular DSD - XX male or XX sex reversal, * 46, XY complete gonadal dysgenesis - XY sex reversal
Areas on the X chromosome that is susceptible to cause DSD issues ? *pseudoautosomal region 1..... *Androgen Receptor
Areas on the Y chromosome that is susceptible to cause DSD issues ? *pseudoautosomal region 1..... * SRY
4 categories that effect 46, XY DSD ? *Gonadal dysgenesis -*Defect in biosynthesis of testosterone -*5α-reductase deficiency -*Androgen insensitivity - most common cause of 46, XY DSD
Gonadal Dysgenesis ? *Mutations in genes driving formation of the gonad - can have complete where you have no testicular development, partial, or mixed
Gonadal Dysgenesis can be associated with ? * Leydig cell aplasia or hypoplasia (mutant LH receptor) ......*Inappropriate gene expression (SRY, SOX-9, SF-1, WT-1, DHH)
Defect in Biosynthesis of Testosterone ? *Defect in any one of the enzymes / factors involved in the synthesis of testosterone from cholesterol-----Complete (may also have congenital adrenal hyperplasia) or Partial
The Defect in Testosterone synthesis causes ? *Congenital micropenis w/out hypospadias.....*Hypogonadotropic hypogonadism (Pit./ hypothalamic disorders (i. e. Kallamann’s syndrome)) ......*Vanishing testes
5α-reductase Deficiency causes what ? * inability to convert Testosterone to DiHydroTestosterone....... * Can have normal virilization at puberty, so can have an identity crisis since they don't have enough DHT early in life to separate the sexes. Puberty causes a severe T spike.
Androgen Insensitivity basic ? * Defect in androgen receptor, so androgens can't bind to elicit their effects
2 Androgen Insensitivity Syndromes ? * Complete androgen insensitivitiy syndrome (CAIS) - normal developed testes, but during puberty, test cant bind, and get female sex characteristics.....*Partial (PAIS) - gynocomasteia and low libido common in men
46, XX DSD Two Causes ? * Abnormal Gonadal Development (Ovotesticular DSD and Aberrant gene expression) and Regular Gonadal development (Abnormal fetal androgen production, Excess maternal androgen production, Deficiency in placental aromatase, Drugs taken during gestation)
Abnormal fetal androgen production, the number 1 cause of 46, XX DSD, basics ? * get congenital adrenal hyperplasia
If STAR protein is deficient ? * it is the protein used to let cholesterol enter the mitochondria....* Get Lipoid congenital adrenal hyperplasia (lipids build up in the cell since it can't enter the mito) and Salt wasting bc increase in ACTH, LH, and FSH
CYP17 deficiency causes ? * HTN - bc everything is shunted from androgen pathway to the aldosterone and glucocorticoid pathway
Cytochrome P450 oxidoreductase (POR) deficiency ? * Cofactor for all microsomal P450 enzymes such as 17α-hydroxylase, 17,20 lyase, 21-hydroxylase, and Aromatase.........* Recently identified as a cause of 46, XX and 46, XY DSD
3b-HSD Deficiency ? *salt wasting...bc no glucocorticoids and Aldosterone
CYP11B1 def. ? * hypertension - bc the substrates that can't be broken down, can retain salt, even though aldosterone is not made
CYP21A2 Deficiency ? *salt loss / no salt loss
Normal ovarian organogenesis with excessive androgen exposure, where you have Excess maternal androgen production ? * Rare, but if exposed >12 weeks, we can see clitomegaly....if <12 weeks, we could see anything from clitomegaly to a penile urethra developing
Normal ovarian organogenesis with excessive androgen exposure, but have an aromatase deficiency ? * aromatase breaks down androgens to estrogen... so no estrogen, but get high androgen levels
Ovotesticular DSD ? * Degree of testicular development dictates Wolffian duct development and Mullerian duct regression
DSD Associated with Congenital and AnomaliesMutations / deletions / altered expression? * WT-1, Wnt4, SF-1/DAX-1
DSD Associated with Chromosomal Abnormalities ? * Klinefelter’s syndrome - (47, XXY) ....-Turner’s syndrome - (45, X) ....*Chimerism- (46, XX / 46 XY)
look up male/female gene differentiation and the chart at the end of this lecture
Created by: thamrick800