دورية أكاديمية
أعرض في EDS

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

التفاصيل البيبلوغرافية
العنوان: Uniparental Isodisomy of Chromosome 1 Unmasking an Autosomal Recessive 3-Beta Hydroxysteroid Dehydrogenase Type II-Related Congenital Adrenal Hyperplasia.
المؤلفون: Panzer K, Ekhaguere OA; 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., Darbro B, Cook J, Shchelochkov OA
المصدر: Journal of clinical research in pediatric endocrinology [J Clin Res Pediatr Endocrinol] 2017 Mar 01; Vol. 9 (1), pp. 70-73. Date of Electronic Publication: 2016 Oct 31.
نوع المنشور: Case Reports; Journal Article
اللغة: English
بيانات الدورية: Publisher: Galenos Yayınevi Country of Publication: Turkey NLM ID: 101519456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1308-5735 (Electronic) NLM ISO Abbreviation: J Clin Res Pediatr Endocrinol Subsets: MEDLINE
أسماء مطبوعة: Publication: Istanbul : Galenos Yayınevi
Original Publication: Istanbul : Turkish Pediatric Endocrinology and Diabetes Society
مواضيع طبية MeSH: Genes, Recessive* , Uniparental Disomy*, Adrenal Hyperplasia, Congenital/*genetics , Chromosomes, Human, Pair 1/*genetics , Progesterone Reductase/*genetics, Adrenal Hyperplasia, Congenital/enzymology ; DNA Mutational Analysis ; Homozygote ; Humans ; In Situ Hybridization, Fluorescence ; Infant, Newborn ; Male ; Mutation, Missense ; Progesterone Reductase/deficiency
مستخلص: 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.
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المشرفين على المادة: EC 1.1.1.145 (3 beta-hydroxysteroid dehydrogenase type II)
EC 1.1.1.145 (Progesterone Reductase)
تواريخ الأحداث: Date Created: 20161101 Date Completed: 20170707 Latest Revision: 20181113
رمز التحديث: 20240628
مُعرف محوري في PubMed: PMC5363168
DOI: 10.4274/jcrpe.3680
PMID: 27796263
قاعدة البيانات: MEDLINE
الوصف
تدمد:1308-5735
DOI:10.4274/jcrpe.3680