title: 17beta-hydroxysteroid dehydrogenase-3 deficiency: a rare endocrine cause of male-to-female sex reversal.
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.
authors.affiliation: Pediatric Endocrinology, Department of Reproductive Medicine and Paediatrics, University of Pisa, Santa Chiara Hospital, Pisa, Italy. s.bertelloni@clp.med.unipi.it
authors.forename: Silvano
authors.initials: S
authors.lastname: Bertelloni
authors.forename: M Cristina
authors.initials: MC
authors.lastname: Maggio
authors.forename: Giovanni
authors.initials: G
authors.lastname: Federico
authors.forename: Giampiero
authors.initials: G
authors.lastname: Baroncelli
authors.forename: Olaf
authors.initials: O
authors.lastname: Hiort
mesh_terms: D015067:17-Hydroxysteroid Dehydrogenases / Q000172:deficiency* / Q000235:genetics* / Q000378:metabolism; D000728:Androgens / Q000378:metabolism; D002675:Child, Preschool; D012734:Disorders of Sex Development / Q000201:enzymology* / Q000235:genetics* / Q000378:metabolism; D004700:Endocrine System Diseases / Q000201:enzymology* / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male
chemical_list: D000728:Androgens; D015067:17-Hydroxysteroid Dehydrogenases; C476565:17beta-hydroxysteroid dehydrogenase type 3