PSEUDOHYPOPARATHYROIDISM Ia TYPE WITH EARLY DEBUT IN SISTERS OF ONE FAMILY
https://doi.org/10.21508/1027-4065-2017-62-4-93-98
Abstract
Pseudohypoparathyroidism is a rare genetic disorder characterised by end-organ resistance to parathyroid hormone due to a defect of the guanine nucleotide-binding protein alpha that simulates activity of the polypeptide 1 (GNAS) gene. Patients with type Ia pseudohypoparathyroidism have different features of Albright's hereditary osteodystrophy and characteristic phenotype (obesity, round face, short stature, short neck, brachidactyly, etc.), multi-hormone resistance. We describe two sisters (half sibs), who presented with different symptoms of pseudohypoparathyroidism and clinically manifested different degree of Albright's hereditary osteodystrophy. Genetic study detected a mutation p.D190MfsX14 (c.568 571 delGACT), in theGNAS 1 gene (OMIM*139320).
About the Authors
L. V. Tyrtova
Saint-Petersburg State Pediatric Medical University
Russian Federation
Russian Federation
A. S. Olenev
Saint-Petersburg State Pediatric Medical University
Russian Federation
Russian Federation
L. V. Ditkovskaja
Saint-Petersburg State Pediatric Medical University
Russian Federation
Russian Federation
N. V. Parshina
Saint-Petersburg State Pediatric Medical University
Russian Federation
Russian Federation
E. N. Suspitsin
Saint-Petersburg State Pediatric Medical University
Russian Federation
Russian Federation
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Review
For citations:
Tyrtova L.V., Olenev A.S., Ditkovskaja L.V., Parshina N.V., Suspitsin E.N. PSEUDOHYPOPARATHYROIDISM Ia TYPE WITH EARLY DEBUT IN SISTERS OF ONE FAMILY. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 2017;62(4):93-98. (In Russ.) https://doi.org/10.21508/1027-4065-2017-62-4-93-98
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