ISSN: 1308-5727 | E-ISSN: 1308-5735
Volume: 16 Issue: 1 Year: 2024
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Abstracting & Indexing
Turkish Society for Pediatric Endocrinology and Diabetes
Uniparental Isodisomy of Chromosome 1 Unmasking an Autosomal Recessive 3-Beta Hydroxysteroid Dehydrogenase Type II-Related Congenital Adrenal Hyperplasia [J Clin Res Pediatr Endocrinol]
J Clin Res Pediatr Endocrinol. 2017; 9(1): 70-73 | DOI: 10.4274/jcrpe.3680

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. Shchelochkov1
1University 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.

Keywords: Steroid 3ß-HSD2 deficiency, HSD3B2 gene, uniparental isodisomy

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
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