假性甲状旁腺功能减退症Ⅰa型并亚临床甲状腺功能减退症一例

Pseudohypoparathyroidism typeⅠa with subclinical hypothyroidism:a case report

本文报告1例假性甲状旁腺功能减退症Ⅰa型并亚临床甲状腺功能减退症患者及其家系成员的临床及遗传学资料。患者具有Albright遗传性骨营养不良症(Albright hereditary osteodystrophy,AHO)的特征性表现,反复搐搦、四肢麻木、身材矮小、短趾,实验室检查示低血钙、高血磷、高甲状旁腺素、高促甲状腺素和生长激素部分缺乏,其父母无异常临床表现。予补钙及维生素D治疗后,患者搐搦、麻木症状明显好转,但AHO畸形无明显变化。患者、父母及其哥哥全外显子测序结果提示患者存在GNAS基因5号外显子351号碱基重复突变[c.351(exon5)dup C],其父母及哥哥无该基因突变。结合患者临床特征及基因测序结果,诊断假性甲状旁腺功能减退症Ⅰa型并亚临床甲状腺功能减退。

The clinical and genetic data were reported in a pedigree with pseudohypoparathyroidism type Ia and subclinical hypothyroidism.Clinically typical Albright hereditary osteodystrophy(AHO),repeated tetany,acro-anesthesia,short stature,and brachydactylia manifested in the proband.The laboratory findings showed hypocalcemia,hyperphosphatemia,elevated parathyroid hormone(PTH),elevated thyroid stimulating hormone(TSH),and partial deficiency of growth hormone,but not in his parents.The patient's symptom of tetany was alleviated by treatment with calcium and vitamin D,but without change in AHO.A GNAS gene mutation[c.351(exon5)dup C]was found in the patient,but not in his parents and his brother.The diagnosis was confirmed with the combination of clinical manifestations and genetic sequencing.