Severe undervirilisation in a 46,XY case due to a novel mutation in HSD17B3 gene

Ayfer Alikaşifoğlu, Doğuş Vurallı*, Olaf Hiort, Nazlı Gönç, Alev Özön, Nurgün Kandemir

*Corresponding author for this work
5 Citations (Scopus)


17-β-hydroxysteroid dehydrogenase type 3 (17β-HSD3) is an important enzyme involved in the final steps of androgen synthesis and is required for the development of normal male external genitalia. 46,XY individuals with deficiency of this enzyme present a wide clinical spectrum from a female appearance of the external genitalia through ambiguous genitalia to a predominantly male genitalia with micropenis or hypospadias. This paper reports a one-year-old 46,XY patient with 17β-HSD3 deficiency who presented with female external genitalia and bilaterally palpable gonads in the inguinal region. The low T/Δ4 ratio after human chorionic gonadotropin (hCG) stimulation suggested 17β-HSD3 deficiency. A homozygous mutation, c.761_762delAG, was determined at the intron 9/exon 10 splice site of the HSD17B3 gene. To the best of our knowledge, this mutation has not been reported thus far, but its localization and type would imply a complete disruption of the 17β-HSD3 which may explain the phenotype of our patient.

Original languageEnglish
JournalJCRPE Journal of Clinical Research in Pediatric Endocrinology
Issue number3
Pages (from-to)249-252
Number of pages4
Publication statusPublished - 01.09.2015

Research Areas and Centers

  • Academic Focus: Center for Brain, Behavior and Metabolism (CBBM)


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