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Disorders of Sexual Differentiation
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==== 46,XX “Pure” Gonadal Dysgenesis ==== * '''Karyotype: 46XX''' * '''Condition entails gonadal dysgenesis only; these patients exhibit none of the somatic stigmata associated with Turner syndrome''' * '''Clinical characteristics:''' ** '''Bilateral streak gonads''' ** '''Sexual infantilism''' ** '''Normal female external genitalia''' ** '''Normal müllerian ducts with absence of wolffian duct structures''' ** '''Normal height''' ** '''The streak gonads result in elevated serum gonadotropins''' * '''Management''' ** Proper cyclic hormone replacement with estrogen and progesterone. ** In contrast to Turner syndrome, growth is not abnormal with this condition, and therefore growth hormone should not be required. ** '''Because, by definition, these patients have no Y-chromosomal material, gonadectomy is not required.'''
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