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Sexual Development
Disorders of Sexual Development
| Question | Answer |
|---|---|
| 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
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