Uniparental Isodisomy of Chromosome 1 Unmasking an Autosomal Recessive 3-Beta Hydroxysteroid Dehydrogenase Type II-Related Congenital Adrenal Hyperplasia
Karin Panzer1, Osayame A. Ekhaguere2, Benjamin Darbro1, Jennifer Cook3, Oleg A. Shchelochkov11University Of Iowa Hospitals And Clinics, Stead Department Of Pediatrics, Iowa, Usa 2The Children’S Hospital Of Philadelphia, Division Of Neonatal And Perinatal Medicine, Philadelphia, Usa 3Blank Children’S Hospital, Department Of Pediatric Endocrinology, Iowa, Usa
Steroid 3-beta hydroxysteroid dehydrogenase type II (3ß-HSD2) deficiency is a rare autosomal recessive form of congenital adrenal hyperplasia (CAH). We report the genetic basis of 3ß-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 7th day of life in salt-wasting adrenal crisis. Steroid hormone testing revealed a complex pattern suggestive of 3ß-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 3ß-HSD2 deficiency. We provide evidence of the existence of an uncommon mechanism for HSD3B2 gene-related CAH arising from UPD of chromosome 1.
Karin Panzer, Osayame A. Ekhaguere, Benjamin Darbro, Jennifer Cook, Oleg A. Shchelochkov. Uniparental Isodisomy of Chromosome 1 Unmasking an Autosomal Recessive 3-Beta Hydroxysteroid Dehydrogenase Type II-Related Congenital Adrenal Hyperplasia. J Clin Res Pediatr Endocrinol. 2017; 9(1): 70-73 Manuscript Language: English