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

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.

• Authors: Ayfer Alikaşifoğlu, Doğuş Vurallı, Olaf Hiort, Nazlı Gönç, Alev Özön, Nurgün Kandemir
• Journal: Journal of clinical research in pediatric endocrinology (J Clin Res Pediatr Endocrinol) Vol. 7 Issue 3 Pg. 249-52 (Sep 2015) ISSN: 1308-5735 [Electronic] Turkey
• PMID: 26831562 (Publication Type: Case Reports, Journal Article)

Chemical References

• 17-Hydroxysteroid Dehydrogenases
• 17beta-hydroxysteroid dehydrogenase type 3

Topics

• 17-Hydroxysteroid Dehydrogenases (deficiency, genetics)
• Disorder of Sex Development, 46,XY (diagnosis, genetics)
• Disorders of Sex Development (genetics)
• Female
• Genitalia, Female
• Gynecomastia (diagnosis, genetics)
• Homozygote
• Humans
• Infant
• Karyotype
• Male
• Mutation
• Steroid Metabolism, Inborn Errors (diagnosis, genetics)