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  • Title: Severe Undervirilisation in a 46,XY Case Due to a Novel Mutation in HSD17B3 Gene.
    Author: Alikaşifoğlu A, Vurallı D, Hiort O, Gönç N, Özön A, Kandemir N.
    Journal: J Clin Res Pediatr Endocrinol; 2015 Sep; 7(3):249-52. PubMed ID: 26831562.
    Abstract:
    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.
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