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Familial male pseudohermaphroditism due to 5-alpha-reductase deficiency in a Turkish Village

✍ Scribed by Suat Akgun; Norman H. Ertel; Julianne Imperato-Mcginley; Bekir Sitki Sayli; Cedric Shackleton


Book ID
115680902
Publisher
Elsevier Science
Year
1986
Tongue
English
Weight
816 KB
Volume
81
Category
Article
ISSN
1555-7162

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Male pseudohermaphroditism due to 5Ξ±-red
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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,