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APY248 Pseudohermaphroditism

APY248 Pseudohermaphroditism - Anthropology 248 Normal...

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Unformatted text preview: Anthropology 248 Normal sexual development, both gonadal and external, depends on the presence of a normal number and type of sex chromosomes. However, that is a necessary, but not sufficient, condition. Pseudohermaphroditism, in which the sex chromosome constitution of an individual is inconsistent with the phenotype of the external genitalia, demonstrates this. Below are three examples of this. 1. Androgen insensitivity — a rare inherited (X—linked) disorder. Chromosomal constitution — 46,XY. Testes internally and generally sterile — makes testosterone, but the tissue which should develop into male external genitalia does not respond properly - faulty androgen receptors — and thus appear female extemally. Mothers are heterozygous carriers. 2‘ 5-alpha reductase deficiency (autosomal recessive) Chromosomal constitution — 46,XY. Testes internally but cannot convert testosterone into dihydroxytestosterone, necessary for fetal development of male external genitalia because of the deficiency. At puberty, testes descend and they become phenotypic males due to increased testosterone. May be fertile. 3. Adrenal hyperplasia (autosomal recessive) Chromosomal constitution — 46,XX. Ovaries internally —— externally masculinized due to over-development of the fetal adrenal glands, leading to the production of excess testosterone. Deficiency of 21-hydroxylase, necessary for the conversion of progesterone to cortisol. The progesterone is converted into testosterone instead (in excess). 46,XX individuals with adrenal hyperplasia have decreased fertility. Pseudohermaphroditism ...
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