Longitudinal Observation in a Turkish Girl with Pseudohypoparathyroidism Type Ia Caused by a Novel Heterozygous Mutation of the GNAS Gene.

Longitudinal Observation in a Turkish Girl with Pseudohypoparathyroidism Type Ia Caused by a Novel Heterozygous Mutation of the GNAS Gene. J Clin Res Pediatr Endocrinol. 2016 Jul 18; Authors: Sahin S, Hiort O, Thiele S, Evliyaoğlu O, Tüysüz B Abstract Pseudohypoparathyroidism-Ia is characterized by multihormone resistance and Albright hereditary osteodystrophy phenotype. It is caused by heterozygous mutations in GNAS gene. Clinical and biochemical findings of the patient were evaluated between 6.5 years and 14.5 years of age. The girl had short stature, brachydactyly and subcutaneous heterotopic ossification. Serum calcium and phosphorus levels were normal, but parathyroid hormone levels were high. Based on the typical clinical findings of AHO phenotype and biochemical findings, she was diagnosed as having PHP-Ia. A novel heterozygous mutation (c.128T>C) was found in GNAS gene. Follow-up examinations revealed resistance to thyroid stimulating hormone and a new biochemical entity as bioinactive growth hormone. Clinicians should take into consideration PHP-Ia in patients referred with short stature and the subjects with AHO phenotype must be further evaluated for hormone resistance, GNAS gene mutation, Gsα activity. To our knowledge this is the first case report describing bioinactive GH in PHP-Ia. PMID: 27425121 [PubMed - as supplied by publisher]
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research