BMS 460 Lecture Notes - Trenbolone, Hirsutism, Median Eminence
26 Apr 2014
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Broadly classified as disorders of gonadal differentiation and development, pseudohermaphorditism, or unclassified/miscellaneous forms. 47, xxy; also 48, xxyy or mosaic 46, xy/46 xxxy: klinefelter"s. Probably translocation of y material to x chromosome or mutation of a x chr gene. Normal testes and external genitalia but 10% have hypospadias. Similar to turner"s syndrome but no somatic effects. 45, xo/46, xy or 46, xy: dysgenetic male pseudohermaphorditism. Bilateral dysgenetic testes; increased risk of gonadoblastoma (45% at 40 year) Produce some t and mis; spectrum of mullerian and wolffian structures persist. Male genotype, sry dysfunctional; phenotypic female with sexual infantilism. Increased risk of germ cell tumors; manage with gonadectomy and hormone replacement. May be mutation or teratogen or bilateral torsion. Both ovarian and testicular tissue in the form of one of each or one/two ovotestes. Internal differentiation depends on the function of ipsilateral gonad. Much more common in pigs than in any other domestic mammals. The most common gonadal disorder causing primary amenorrhea.
