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

Karin Panzer; Osayame A Ekhaguere; Benjamin Darbro; Jennifer Cook; Oleg A Shchelochkov

doi:10.4274/jcrpe.3680

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

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

Karin Panzer, Osayame A Ekhaguere, Benjamin Darbro, Jennifer Cook and Oleg A Shchelochkov

Journal of clinical research in pediatric endocrinology, Vol.9(1), pp.70-73

03/2017

DOI: 10.4274/jcrpe.3680

PMCID: PMC5363168

PMID: 27796263

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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 7 th day 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 of HSD3B2 revealed 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 for HSD3B2 gene-related CAH arising from UPD of chromosome 1.

uniparental isodisomy

Steroid 3β-HSD2 deficiency

HSD3B2 gene

Case Report

Details

Title: Subtitle: Uniparental Isodisomy of Chromosome 1 Unmasking an Autosomal Recessive 3-Beta Hydroxysteroid Dehydrogenase Type II-Related Congenital Adrenal Hyperplasia
Creators: Karin Panzer - University of Iowa Hospitals and Clinics, Stead Department of Pediatrics, Iowa, USA
Osayame A Ekhaguere - The Children’s Hospital of Philadelphia, Division of Neonatal and Perinatal Medicine, Philadelphia, USA
Benjamin Darbro - University of Iowa Hospitals and Clinics, Stead Department of Pediatrics, Iowa, USA
Jennifer Cook - Blank Children’s Hospital, Department of Pediatric Endocrinology, Iowa, USA
Oleg A Shchelochkov - University of Iowa Hospitals and Clinics, Stead Department of Pediatrics, Iowa, USA
Resource Type: Journal article
Publication Details: Journal of clinical research in pediatric endocrinology, Vol.9(1), pp.70-73
DOI: 10.4274/jcrpe.3680
PMID: 27796263
PMCID: PMC5363168
NLM abbreviation: J Clin Res Pediatr Endocrinol
ISSN: 1308-5727
eISSN: 1308-5735
Publisher: Galenos Publishing
Language: English
Date published: 03/2017
Academic Unit: Stead Family Department of Pediatrics; Medical Genetics and Genomics
Record Identifier: 9984093309502771

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