dc.contributor.author | Alikaşifoğlu, Ayfer | |
dc.contributor.author | Vurallı, Doğuş | |
dc.contributor.author | Hiort, Olaf | |
dc.contributor.author | Gönç, Nazlı | |
dc.contributor.author | Özön, Alev | |
dc.contributor.author | Kandemir, Nurgün | |
dc.date.accessioned | 2019-12-10T10:51:03Z | |
dc.date.available | 2019-12-10T10:51:03Z | |
dc.date.issued | 2015 | |
dc.identifier.issn | 1308-5727 | |
dc.identifier.uri | https://doi.org/10.4274/jcrpe.2069 | |
dc.identifier.uri | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4677563/ | |
dc.identifier.uri | http://hdl.handle.net/11655/14410 | |
dc.description.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. | |
dc.relation.isversionof | 10.4274/jcrpe.2069 | |
dc.rights | info:eu-repo/semantics/openAccess | |
dc.title | Severe Undervirilisation in a 46,XY Case Due to a Novel Mutation in HSD17B3 Gene | |
dc.type | info:eu-repo/semantics/article | |
dc.type | info:eu-repo/semantics/publishedVersion | |
dc.relation.journal | Journal of Clinical Research in Pediatric Endocrinology | |
dc.contributor.department | Çocuk Sağlığı ve Hastalıkları | |
dc.identifier.volume | 7 | |
dc.identifier.issue | 3 | |
dc.identifier.startpage | 249 | |
dc.identifier.endpage | 252 | |
dc.description.index | PubMed | |
dc.description.index | WoS | |
dc.description.index | Scopus | |