Hsd17b3 Reference Search Result - Rat Genome Database

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RGD ID	Title	Citation	Abstract	PubMed	Pub Date
11060582	17betaHSD-3 enzyme deficiency due to novel mutations in the HSD17B3 gene diagnosed in a neonate.	Sagsak E, etal., J Pediatr Endocrinol Metab. 2015 Jul;28(7-8):957-9. doi: 10.1515/jpem-2014-0354.	17-beta-Hydroxysteroid dehydrogenase type 3 (17betaHSD-3) is present almost exclusively in the testes, and converts androstenedione (A) to testosterone (T). 17betaHSD-3 deficiency is rare. The diagnosis can be missed in early childhood as the clinical presentation may be subtle. The most frequent p ... (more) resentation of 17 HSD-3 deficiency is a 46,XY individual with female external genitalia, labial fusion and a blind ending vagina, with or without clitoromegaly. A low testosterone/androstenedion (T/A) ratio is suggestive of 17betaHSD-3 deficiency, and such diagnosis can be confirmed with molecular genetic studies. A 12-day newborn was referred to our hospital because of palpable gonads in the labia majora. On physical examination, the baby had female external genitalia and palpable gonads in the labia majora. T/A ratio was 0.26 and the diagnosis was 17betaHSD-3 deficiency, which was confirmed by the evidence of compound heterozygousity novel frameshift mutations in exon 9 and 10 of HSD17B3 gene.	25894637	2015-04-01