Uniparental Isodisomy of Chromosome 1 Unmasking an Autosomal Recessive 3-Beta Hydroxysteroid Dehydrogenase Type II-Related Congenital Adrenal Hyperplasia

作者：Panzer Karin; Ekhaguere Osayame A^*; Darbro Benjamin; Cook Jennifer; Shchelochkov Oleg A

来源：Journal of Clinical Research in Pediatric Endocrinology, 2017, 9(1): 70-73.

DOI：10.4274/jcrpe.3680

• Steroid 3 beta-HSD2 deficiency
• HSD3B2 gene
• uniparental isodisomy

Steroid 3-beta hydroxysteroid dehydrogenase type II (3 beta-HSD2) deficiency is a rare autosomal recessive form of congenital adrenal hyperplasia (CAH). We report the genetic basis of 3 beta-HSD2 deficiency arising from uniparental isodisomy (UPD) of chromosome 1. We describe a term undervirilized male whose newborn screen indicated borderline CAH. The patient presented on the 7(th) day of life in salt-wasting adrenal crisis. Steroid hormone testing revealed a complex pattern suggestive of 3 beta-HSD deficiency. Chromosomal microarray and single nucleotide polymorphism analysis revealed complete UPD of chromosome 1. Sanger sequencing of HSD3B2 revealed a previously described missense mutation, c.424G>A (p.E142K) in homozygous state, thus confirming the diagnosis of 3 beta-HSD2 deficiency. We provide evidence of the existence of an uncommon mechanism for HSD3B2 gene-related CAH arising from UPD of chromosome 1.

• 出版日期2017-3