Case Report of GNAS Epigenetic Defect Revealed by a Congenital Hypothyroidism

GNAS复合轨迹 假性甲状旁腺机能减退 医学 内分泌学 内科学 骨营养不良 先天性甲状腺功能减退 表观遗传学 短乳 甲状旁腺激素 遗传学 甲状腺 身材矮小 生物 基因
作者
Pauline Romanet,Lindsay Osei,Irène Netchine,Morgane Pertuit,A Enjalbert,Rachel Reynaud,Anne Barlier
出处
期刊:Pediatrics [American Academy of Pediatrics]
卷期号:135 (4): e1079-e1083 被引量:27
标识
DOI:10.1542/peds.2014-2806
摘要

Pseudohypoparathyroidism (PHP) is a group of disorders characterized by end-organ resistance to the parathyroid hormone (PTH). PHP type 1A includes multihormone resistance syndrome, Albright’s hereditary osteodystrophy, and obesity and is caused by mutations in GNAS exon 1 through 13. PHP type 1B (PHP1B), caused by epigenetic changes in the GNAS locus, was initially described as an isolated resistance to PTH. Epigenetic changes in GNAS have also been reported in patients who display mild Albright’s hereditary osteodystrophy or mild thyroid-stimulating hormone (TSH) resistance without mutation of GNAS. Here we report a case of PHP caused by epigenetic changes in GNAS in a patient with congenital hypothyroidism. The patient was referred for a positive newborn screening for hypothyroidism (TSH 50 mIU/L). She exhibited severe clinical features of congenital hypothyroidism. The thyroid was in place, and etiologic explorations were negative. TSH was normalized under L-thyroxin, and the symptoms disappeared, except for a macroglossia. In childhood, PHP was suspected in addition to elevated PTH, obesity, brachydactyly, and a rounded face. Sequencing, methylation analysis, and large deletion research were performed in GNAS. No genetic mutations were found. Methylation analysis revealed a broad epigenetic defect without deletion in GNAS consistent with sporadic PHP1B. The multilocus methylation analysis were negative. This finding expands the known onsets of PHP1B and emphasizes the need for a new PHP classification system. This case report has important consequences for the etiologic diagnosis of congenital hypothyroidism because it adds a new cause of the disease.
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