Department of Endocrinology, Diabetes, and Metabolism, Gosford Hospital, Gosford, New South Wales, Australia.
Department of Endocrinology and Diabetes, The Townsville Hospital, Townsville, Queensland, Australia.
Endocr Pract. 2014 Oct;20(10):e202-6. doi: 10.4158/EP14020.CR.
We report an atypical association of primary adrenal insufficiency and pseudohypoparathyroidism (PHP) and a novel GNAS1 gene mutation in a Caucasian female who initially presented with adrenal crisis.
A case report and literature review.
A 37-year-old female presented with shock at 11 years of age, and investigations revealed primary adrenal insufficiency and pseudohypoparathyroidism (PHP). She had typical features of Albright hereditary osteodystrophy (AHO) and evidence of thyroid-stimulating hormone (TSH), growth-hormone-releasing hormone (GHRH), and gonadotrophin resistance fitting with the diagnosis of PHP type 1a/1c. She did not have a family history of any autoimmune disease or PHP. Her mother was phenotypically normal. Genomic DNA sequencing of those GNAS exons and adjacent intronic regions that encode the stimulatory guanine nucleotide-binding protein Gsα revealed a novel heterozygous mutation in exon 11, c.857-858delCT.
The association of primary adrenal insufficiency and PHP has not been reported in literature and may prove an area for further research. The novel mutation in this case adds to the spectrum of mutations associated with these disorders.
我们报告了一例伴发原发性肾上腺功能不全和假性甲状旁腺功能减退症（PHP）的不典型病例，以及一位最初表现为肾上腺危象的高加索女性中 GNAS1 基因突变的新情况。
病例报告和文献复习。
一位 37 岁女性 11 岁时出现休克，检查发现原发性肾上腺功能不全和假性甲状旁腺功能减退症（PHP）。她具有 Albright 遗传性骨营养不良症（AHO）的典型特征，以及促甲状腺激素（TSH）、生长激素释放激素（GHRH）和促性腺激素抵抗的证据，符合 PHP 1a/1c 型的诊断。她没有任何自身免疫性疾病或 PHP 的家族史。她的母亲表型正常。那些编码刺激性鸟苷酸结合蛋白 Gsα 的 GNAS 外显子和相邻内含子区域的基因组 DNA 测序显示，11 号外显子 c.857-858delCT 存在一个新的杂合突变。
原发性肾上腺功能不全和 PHP 的联合发病在文献中尚未报道，可能需要进一步研究。本病例中的新突变增加了与这些疾病相关的突变谱。
