Unknown

Dataset Information

0

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 (3?-HSD2) deficiency is a rare autosomal recessive form of congenital adrenal hyperplasia (CAH). We report the genetic basis of 3?-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 3?-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?-HSD2 deficiency. We provide evidence of the existence of an uncommon mechanism for HSD3B2 gene-related CAH arising from UPD of chromosome 1.

SUBMITTER: Panzer K 

PROVIDER: S-EPMC5363168 | biostudies-literature | 2017 Mar

REPOSITORIES: biostudies-literature

Json Xml
altmetric image

Publications

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

Panzer Karin K   Ekhaguere Osayame A OA   Darbro Benjamin B   Cook Jennifer J   Shchelochkov Oleg A OA  

Journal of clinical research in pediatric endocrinology 20161031 1

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<sup>th</sup> day of life in salt-wasting adrenal crisis. Steroid hormone testing revealed a complex pattern suggestive of 3β-H  ...[more]

Similar Datasets

Unknown Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy.
| S-EPMC1682625 | biostudies-other
Unknown Paternal Uniparental Isodisomy of Chromosome 2 in a Patient with CNGA3-Associated Autosomal Recessive Achromatopsia.
| S-EPMC8346044 | biostudies-literature
Unknown Detection of uniparental isodisomy in autosomal recessive mitochondrial DNA depletion syndrome by high-density SNP array analysis.
| S-EPMC7512120 | biostudies-literature
Unknown Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays.
| S-EPMC6777471 | biostudies-literature
Unknown Genetics of congenital adrenal hyperplasia.
| S-EPMC5576025 | biostudies-literature
Unknown Uniparental isodisomy caused autosomal recessive diseases: NGS-based analysis allows the concurrent detection of homogenous variants and copy-neutral loss of heterozygosity.
| S-EPMC6785455 | biostudies-literature
Unknown Adrenal hypoplasia congenita presenting as congenital adrenal hyperplasia.
| S-EPMC3583052 | biostudies-literature
Unknown Emerging treatment for congenital adrenal hyperplasia.
| S-EPMC9302862 | biostudies-literature
Unknown Novel treatments for congenital adrenal hyperplasia.
| S-EPMC9156475 | biostudies-literature
Unknown Adrenal morphology and associated comorbidities in congenital adrenal hyperplasia.
| S-EPMC6635023 | biostudies-literature