Severe Undervirilisation in a 46,XY Case Due to a Novel Mutation in HSD17B3 Gene
Date
2015Author
Alikaşifoğlu, Ayfer
Vurallı, Doğuş
Hiort, Olaf
Gönç, Nazlı
Özön, Alev
Kandemir, Nurgün
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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.
URI
https://doi.org/10.4274/jcrpe.2069https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4677563/
http://hdl.handle.net/11655/14410