title: Uniparental Isodisomy of Chromosome 1 Unmasking an Autosomal Recessive 3-Beta Hydroxysteroid Dehydrogenase Type II-Related Congenital Adrenal Hyperplasia.
abstract: Steroid 3-beta hydroxysteroid dehydrogenase type II (3β-HSD2) deficiency is a rare autosomal recessive form of congenital adrenal hyperplasia (CAH). We report the genetic basis of 3β-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 7thday of life in salt-wasting adrenal crisis. Steroid hormone testing revealed a complex pattern suggestive of 3β-HSD deficiency. Chromosomal microarray and single nucleotide polymorphism analysis revealed complete UPD of chromosome 1. Sanger sequencing ofHSD3B2revealed a previously described missense mutation, c.424G>A (p.E142K) in homozygous state, thus confirming the diagnosis of 3β-HSD2 deficiency. We provide evidence of the existence of an uncommon mechanism forHSD3B2gene-related CAH arising from UPD of chromosome 1.
authors: Karin
authors: K
authors: Panzer
authors: The Children's Hospital of Philadelphia, Division of Neonatal and Perinatal Medicine, Philadelphia, USA Phone: +1 319 855-9093 E-mail: ekhaguereo@email.chop.edu.
authors: Osayame A
authors: OA
authors: Ekhaguere
authors: Benjamin
authors: B
authors: Darbro
authors: Jennifer
authors: J
authors: Cook
authors: Oleg A
authors: OA
authors: Shchelochkov
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000201:enzymology / Q000235:genetics*; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D004252:DNA Mutational Analysis; D005808:Genes, Recessive; D006720:Homozygote; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D008297:Male; D020125:Mutation, Missense; D011375:Progesterone Reductase / Q000172:deficiency / Q000235:genetics*; D024182:Uniparental Disomy
chemical_list: C533068:3 beta-hydroxysteroid dehydrogenase type II; D011375:Progesterone Reductase