𝔖 Bobbio Scriptorium
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FAMILIAL MALE PSEUDOHERMAPHRODITISM DUE TO DEFICIENCY OF 5α-REDUCTASE

✍ Scribed by M. O. SAVAGE; M. A. PREECE; S. L. JEFFCOATE; P. G. RANSLEY; G. RUMSBY; M. D. MANSFIELD; D. I. WILLIAMS


Book ID
114717534
Publisher
John Wiley and Sons
Year
1980
Tongue
English
Weight
936 KB
Volume
12
Category
Article
ISSN
0300-0664

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Three sibs with an inherited form of male pseudohermaphroditism are described. They were all born with ambiguous external genitalia but no diagnosis of a possible enzyme defect was made during childhood. First seen at the ages of 16, 14 and 10 years respectively, they were investigated in order to e

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Conversion of testosterone (T) to dihydrotestosterone (DHT) in genital tissue is catalysed by the enzyme 5a-reductase 2, which is encoded by the SRD5A2 gene. The potent androgen DHT is required for full masculinization of the external genitalia. Mutations of the SRD5A2 gene inhibit enzyme activity,