17beta-hydroxysteroid dehydrogenase-3 deficiency: a rare endocrine cause ofmale-to-female sex reversal

Maria Cristina Maggio, Giampiero Baroncelli, Silvano Bertelloni, Giovanni Federico, Olaf Hiort, Giovanna Federico

Risultato della ricerca: Articlepeer review

16 Citazioni (Scopus)


Deficiency of 17β-hydroxysteroid dehydrogenase type 3 (17β-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 Δ4-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 17β-HSD3 deficiency, in whom an erroneous diagnosis of androgen insensitivity syndrome was made. The clinical, endocrine and genetic features of 17β-HSD3 deficiency are also reviewed.
Lingua originaleEnglish
pagine (da-a)488-494
RivistaGynecological Endocrinology
Volume22 (9)
Stato di pubblicazionePublished - 2006

All Science Journal Classification (ASJC) codes

  • Endocrinology, Diabetes and Metabolism
  • Endocrinology
  • Obstetrics and Gynaecology

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