ISSN: 1308-5727 | E-ISSN: 1308-5735
Volume : 7 Issue : 3 Year : 2024
Forms

Abstracting & Indexing
Turkish Society for Pediatric Endocrinology and Diabetes
Severe Undervirilisation in a 46,XY Case Due to a Novel Mutation in HSD17B3 Gene [J Clin Res Pediatr Endocrinol]
J Clin Res Pediatr Endocrinol. 2015; 7(3): 249-252 | DOI: 10.4274/jcrpe.2069

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

Ayfer Alikaşifoğlu1, Doğuş Vurallı1, Olaf Hiort2, Nazlı Gönç1, Alev Özön1, Nurgün Kandemir1
1Hacettepe University Faculty Of Medicine, Department Of Pediatrics, Division Of Pediatric Endocrinology, Ankara, Turkey
2University Of Lübeck Faculty Of Medicine, Department Of Pediatrics, Division Of Pediatric Endocrinology And Diabetes, Lübeck, Germany

17-ß-hydroxysteroid dehydrogenase type 3 (17ß-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 17ß-HSD3 deficiency who presented with female external genitalia and bilaterally palpable gonads in the inguinal region. The low T/?4 ratio after human chorionic gonadotropin (hCG) stimulation suggested 17ß-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 17ß-HSD3 which may explain the phenotype of our patient.

Keywords: 17 beta-hydroxysteroid dehydrogenase type 3,46,XY disorders of sex development,delta-4-androstenedione

Ayfer Alikaşifoğlu, Doğuş Vurallı, Olaf Hiort, Nazlı Gönç, Alev Özön, Nurgün Kandemir. Severe Undervirilisation in a 46,XY Case Due to a Novel Mutation in HSD17B3 Gene. J Clin Res Pediatr Endocrinol. 2015; 7(3): 249-252
Manuscript Language: English
LookUs & Online Makale