DIFFERENT ASPECTS OF 5α-REDUCTASE DEFICIENCY IN MALE PSEUDOHERMAPHRODITISM AND HYPOTHYROIDISM
✍ Scribed by P. MAUVAIS-JARVIS; F. KUTTENN; IRÈNE MOWSZOWICZ; FRANÇOISE WRIGHT
- Book ID
- 114717656
- Publisher
- John Wiley and Sons
- Year
- 1981
- Tongue
- English
- Weight
- 607 KB
- Volume
- 14
- 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
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,