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- Title
17beta-hydroxysteroid dehydrogenase-3 deficiency: a rare endocrine cause of male-to-female sex reversal.
- Authors
Bertelloni, Silvano; Maggio, M Cristina; Federico, Giovanni; Baroncelli, Giampiero; Hiort, Olaf
- Abstract
Deficiency of 17beta-hydroxysteroid dehydrogenase type 3 (17beta-HSD3), due to mutations in the gene encoding the enzyme, results in a rare autosomal recessive form of male-to-female sex reversal. Mutated genes encode an abnormal enzyme with absent or reduced ability to convert Delta4-androstenedione to testosterone in the testis. Affected individuals are genetically males who developed internal male Wolffian structures but female external genitalia. Such individuals are usually raised as females and diagnosis is made at puberty, when they show virilization. Correct diagnosis is mandatory to optimize treatment and follow-up. In the present paper we report the clinical history, endocrine evaluation and molecular genetics of a prepubertal girl affected by 17beta-HSD3 deficiency, in whom an erroneous diagnosis of androgen insensitivity syndrome was made. The clinical, endocrine and genetic features of 17beta-HSD3 deficiency are also reviewed.
- Publication
Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology, 2006, Vol 22, Issue 9, p488
- ISSN
0951-3590
- Publication type
Journal Article
- DOI
10.1080/09513590600921358