Panzer Karin, Ekhaguere Osayame A, Darbro Benjamin, Cook Jennifer, Shchelochkov Oleg A
The Children's Hospital of Philadelphia, Division of Neonatal and Perinatal Medicine, Philadelphia, USA Phone: +1 319 855-9093 E-mail:
J Clin Res Pediatr Endocrinol. 2017 Mar 1;9(1):70-73. doi: 10.4274/jcrpe.3680. Epub 2016 Oct 31.
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 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 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 gene-related CAH arising from UPD of chromosome 1.
II型类固醇3-β羟类固醇脱氢酶（3β-HSD2）缺乏症是先天性肾上腺皮质增生症（CAH）的一种罕见常染色体隐性遗传形式。我们报告了因1号染色体单亲等二体性（UPD）导致的3β-HSD2缺乏症的遗传基础。我们描述了一名足月出生但男性化不足的男婴，其新生儿筛查显示CAH临界值。该患者在出生后第7天出现失盐型肾上腺危象。类固醇激素检测显示出一种复杂模式，提示3β-HSD缺乏。染色体微阵列和单核苷酸多态性分析显示1号染色体完全UPD。对 进行的桑格测序揭示了一个先前描述的纯合状态的错义突变，c.424G>A（p.E142K），从而确诊为3β-HSD2缺乏症。我们提供了证据，证明存在一种由1号染色体UPD引起的与 基因相关的CAH的罕见机制。
