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Severe Undervirilisation in a 46,XY Case Due to a Novel Mutation in HSD17B3 Gene

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 appearan...

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Detalles Bibliográficos
Autores principales: Alikaşifoğlu, Ayfer, Vurallı, Doğuş, Hiort, Olaf, Gönç, Nazlı, Özön, Alev, Kandemir, Nurgün
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4677563/
https://www.ncbi.nlm.nih.gov/pubmed/26831562
http://dx.doi.org/10.4274/jcrpe.2069
Descripción
Sumario: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.