两个患有先天性肾上腺发育不全的兄弟姐妹中存在基因的新型无终止变异。
Novel non-stop variant of the gene in two siblings with adrenal hypoplasia congenita.
机构信息
Division of Endocrinology and Metabolism, National Center for Child Health and Development, Tokyo, Japan.
Department of Molecular Endocrinology, Research Institute, National Center for Child Health and Development, Tokyo, Japan.
出版信息
J Pediatr Endocrinol Metab. 2022 Jul 14;35(9):1189-1193. doi: 10.1515/jpem-2022-0120. Print 2022 Sep 27.
OBJECTIVES
Mutations in the dosage-sensitive sex reversal-AHC critical region on the X chromosome, gene 1 (, officially ), cause X-linked adrenal hypoplasia congenita (AHC) and hypogonadotropic hypogonadism (HHG). Salt-losing adrenal insufficiency usually occurs during the neonatal period or early childhood. We report a novel non-stop variant of in two siblings and their unusual clinical course.
CASE PRESENTATION
The proband was a boy who presented with an unusual form of AHC with neonatal onset of growth failure and mild salt loss, but without cutaneous pigmentation or plasma ACTH elevation. His 4-year-old elder brother had been growing healthily, but carried an AHC diagnosis. A non-stop variant of (p.*471K) was demonstrated in the patients and their mother.
CONCLUSIONS
We identified a novel non-stop variant of in two siblings. Mild salt loss associated with hyperkalemia is a crucial diagnostic clue for AHC, even without apparent symptoms of glucocorticoid deficiency.
目的
X 染色体剂量敏感性别逆转-AHC 关键区基因 1（，正式名称）中的突变导致 X 连锁肾上腺发育不良（AHC）和促性腺激素缺乏性性腺功能减退症（HHG）。盐丢失性肾上腺皮质功能不全通常发生在新生儿期或儿童早期。我们报告了两兄弟及其不寻常临床病程的一种新型无终止变异体。
病例介绍
先证者是一名男孩，表现为一种不寻常形式的 AHC，新生儿期出现生长发育不良和轻度盐丢失，但无皮肤色素沉着或血浆 ACTH 升高。他 4 岁的哥哥一直健康成长，但患有 AHC 诊断。患者及其母亲均存在 的无终止变异体（p.*471K）。
结论
我们在两兄弟中鉴定出一种新型的无终止变异体。与高钾血症相关的轻度盐丢失是 AHC 的关键诊断线索，即使没有明显的糖皮质激素缺乏症状。
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