منابع مشابه
GNAS Mutations in Pseudohypoparathyroidism Type 1a and Related Disorders
Pseudohypoparathyroidism type 1a (PHP1a) is characterized by hypocalcaemia and hyperphosphatemia due to parathyroid hormone resistance, in association with the features of Albright's hereditary osteodystrophy (AHO). PHP1a is caused by maternally inherited inactivating mutations of Gs-alpha, which is encoded by a complex imprinted locus termed GNAS. Paternally inherited mutations can lead either...
متن کاملCharacteristic Height Growth Pattern in Patients with Pseudohypoparathyroidism: Comparison between Type 1a and Type 1b
Pseudohypoparathyroidism (PHP) is a metabolic disorder characterized by organ resistance to the action of parathyroid hormone. PHP type 1 is subclassified into two apparent disorders, type 1a (PHP1a) and type 1b (PHP1b). Patients with PHP1a show Albright hereditary osteodystrophy including short stature. Patients with PHP1b have no such skeletal defects, however, literature regarding the growth...
متن کاملLongitudinal Growth of the Short Bones of the Hand in a Girl with Pseudohypoparathyroidism Type Ia
Brachydactyly is a common feature of pseudohypoparathyroidism (PHP) type Ia. We studied the longitudinal growth of the short bones in the hand of a 15-yr-old girl with PHP type Ia who had been followed for congenital hypothyroidism. Radiographs of the hand of the patient, who had been X-rayed every year since 2 yr of age, were studied. She showed cone-shaped epiphyses of the hand at 2 yr of age...
متن کاملPseudohypoparathyroidism type 1a due to a novel mutation in the GNAS gene
Dear Editor, Pseudohypoparathyroidism type 1a (PHP1a) (OMIM #103580) is characterized by hypocalcaemia and hyperphosphataemia due to parathyroid hormone (PTH) resistance, associated with features of Albright’s Hereditary Osteodystrophy (AHO) which include short stature, obesity, subcutaneous calcifications and brachydactyly. PHP1a is caused by heterozygous germline mutations of the alpha subuni...
متن کاملEctopic Calcification as Discernible Manifestation in Neonates with Pseudohypoparathyroidism Type 1a
The diagnosis of pseudohypoparathyroidism type 1a (PHP1a) is challenging, because both the osteodystrophy, such as brachydactyly and round face, and the symptomatic hypocalcemia usually develop beyond infancy. Although ectopic calcification may be an early sign of PHP1a, there are no systematic reviews regarding the time of its appearance. We here report on two PHP1a patients who presented with...
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ژورنال
عنوان ژورنال: Endocrine Abstracts
سال: 2015
ISSN: 1479-6848
DOI: 10.1530/endoabs.37.ep287