title: 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.forename: Ayfer
authors.initials: A
authors.lastname: Alikaşifoğlu
authors.affiliation: Hacettepe University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Endocrinology, Ankara, Turkey Phone: +90 312 305 11 24 E-mail: dvuralli@hotmail.com.
authors.forename: Doğuş
authors.initials: D
authors.lastname: Vurallı
authors.forename: Olaf
authors.initials: O
authors.lastname: Hiort
authors.forename: Nazlı
authors.initials: N
authors.lastname: Gönç
authors.forename: Alev
authors.initials: A
authors.lastname: Özön
authors.forename: Nurgün
authors.initials: N
authors.lastname: Kandemir
mesh_terms: D015067:17-Hydroxysteroid Dehydrogenases / Q000172:deficiency* / Q000235:genetics; D058490:Disorder of Sex Development, 46,XY / Q000175:diagnosis / Q000235:genetics*; D012734:Disorders of Sex Development / Q000235:genetics*; D005260:Female; D005836:Genitalia, Female; D006177:Gynecomastia / Q000175:diagnosis / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007223:Infant; D059785:Karyotype; D008297:Male; D009154:Mutation; D043202:Steroid Metabolism, Inborn Errors / Q000175:diagnosis / Q000235:genetics*
chemical_list: D015067:17-Hydroxysteroid Dehydrogenases; C476565:17beta-hydroxysteroid dehydrogenase type 3
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