46,XY Sex Development Defect due to a Novel Homozygous (Splice Site) c.673_1G>C Variation in the HSD17B3 Gene: Case Report

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dc.authoridÇamtosun, Emine/0000-0002-8144-4409
dc.authorwosidÇiftci, Nurdan/GNM-8116-2022
dc.authorwosidÇamtosun, Emine/AAE-3945-2020
dc.contributor.authorCiftci, Nurdan
dc.contributor.authorKayas, Leman
dc.contributor.authorCamtosun, Emine
dc.contributor.authorAkinci, Aysehan
dc.date.accessioned2024-08-04T20:10:11Z
dc.date.available2024-08-04T20:10:11Z
dc.date.issued2022
dc.departmentİnönü Üniversitesien_US
dc.description.abstractThe enzyme 17-beta-hydroxysteroid dehydrogenase type 3 (17 beta-HSD3) catalyzes the biosynthesis of testosterone (T) from Delta 4-androstenedione, and plays an important role in the final steps of androgen synthesis. 17 beta-HSD3 deficiency originates from mutations in the HSD17B gene, causing an autosomal recessive 46,XY sex developmental disorder (DSD). Patients with 46,XY karyotype can exhibit a wide phenotypic spectrum, varying from complete external female genitalia to male genitalia with hypospadias. Here we report a case of 17 beta-HSD3 deficiency diagnosed in the infantile period who was later found to have a novel HSD17B3 gene variation. The 14-month old patient, who exhibited a female phenotype, presented with a bilateral lump in the inguinal area. Imaging revealed bilateral testicular gonads in the inguinal area. Hormonal evaluation showed low levels of basal and stimulated serum T, a high level of androstenedione (A), and a low T/A ratio. Chromosomal analysis showed 46,XY karyotype. Sequence analysis of the HSD17B3 gene revealed a c.673_1G>C homozygous class 2 (splice site) variation in intron 9. The consanguineous parents were sequenced, and both were heterozygous for the same mutation. This variation has not been previously reported in the literature. In conclusion, a 46,XY DSD should be considered in patients with a female phenotype who exhibit gonad(s) in the inguinal area at an early age. Furthermore, in patients with insufficient T synthesis and high levels of androstenedione, 17 beta-HSD3 should be considered, and molecular analysis should be done for a definitive diagnosis and subsequent genetic counseling.en_US
dc.identifier.doi10.4274/jcrpe.galenos.2020.2020.0249
dc.identifier.endpage238en_US
dc.identifier.issn1308-5727
dc.identifier.issn1308-5735
dc.identifier.issue2en_US
dc.identifier.pmid33389920en_US
dc.identifier.scopus2-s2.0-85131770338en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage233en_US
dc.identifier.trdizinid530910en_US
dc.identifier.urihttps://doi.org/10.4274/jcrpe.galenos.2020.2020.0249
dc.identifier.urihttps://search.trdizin.gov.tr/yayin/detay/530910
dc.identifier.urihttps://hdl.handle.net/11616/92652
dc.identifier.volume14en_US
dc.identifier.wosWOS:000810938400012en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakTR-Dizinen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherGalenos Yayinciliken_US
dc.relation.ispartofJournal of Clinical Research in Pediatric Endocrinologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subject17 beta-hydroxysteroid dehydrogenase type 3en_US
dc.subject46,XY disorders of sex developmenten_US
dc.subjectHSD17B3 geneen_US
dc.title46,XY Sex Development Defect due to a Novel Homozygous (Splice Site) c.673_1G>C Variation in the HSD17B3 Gene: Case Reporten_US
dc.typeArticleen_US

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