Moutinho Adelaide, Carvalho Rosa, Ferreira Reis Rita, Tavares Sandra
Department of Internal Medicine, Hospital de Chaves, Centro Hospitalar de Trás-os-Montes e Alto Douro, Chaves, Portugal.
Department of Internal Medicine, Hospital de Braga, Braga, Portugal.
Case Rep Endocrinol. 2018 Jan 22;2018:7813591. doi: 10.1155/2018/7813591. eCollection 2018.
Pseudohypoparathyroidism type 1a is caused by GNAS mutations leading to target organ resistance to multiple hormones rather than parathyroid hormone, resulting not only in hypocalcemia, but also in Albright's hereditary osteodystrophy phenotype.
DNA sequencing of the GNAS gene identified a novel heterozygous mutation in peripheral blood leukocytes in the family presented in this case report.
We present a case of a 25-year-old woman with pseudohypoparathyroidism type 1a admitted with seizures, whose family presents an autosomal dominant transmission of a novel heterozygous GNAS mutation (c.524_530+3del).
Pseudohypoparathyroidism type 1a is mostly caused by inactivating GNAS mutations that have been gradually reported in the literature that lead to a typical and complex clinical phenotype and resistance to multiple hormones. The deletion caused by the mutation identified in the presented case has not been reported previously.
1a型假性甲状旁腺功能减退症由GNAS基因突变引起，导致靶器官对多种激素而非甲状旁腺激素产生抵抗，不仅会引发低钙血症，还会导致奥尔布赖特遗传性骨营养不良表型。
对GNAS基因进行DNA测序，在本病例报告所呈现的家族外周血白细胞中鉴定出一种新的杂合突变。
我们报告一例25岁1a型假性甲状旁腺功能减退症女性患者，因癫痫发作入院，其家族呈现一种新的杂合GNAS突变（c.524_530+3del）的常染色体显性遗传。
1a型假性甲状旁腺功能减退症主要由失活的GNAS突变引起，文献中已逐渐报道这些突变会导致典型且复杂的临床表型以及对多种激素的抵抗。本病例中鉴定出的突变所导致的缺失此前尚未见报道。
