Pseudohypoparathyroidism type 1b with hypothyroidism.
نویسندگان
چکیده
Pseudohypoparathyroidism due to deficient end organ response to parathyroid hormone (PTH) is characterized by hypocalcemia, hyperphosphatemia and increased serum PTH. We report a case of an 8-year-old girl with pseudohypoparathyroidism without features of Albright's hereditary osteodystrophy. The case is of interest as the child on serial follow-up over a period of 2 years developed hypothyroidism. This is a rare feature seen in pseudohypoparathyroidism type1b.
منابع مشابه
Pseudohypoparathyroidism: phenotypic spectrum in kindred
Pseudohypoparathyroidism (PHP) encompasses a heterogeneous group of disorders due to an inactivating mutation in the GNAS gene which encodes the a subunit of Gs proteins (Gsa). Gsa plays a crucial role in intracellular signal transduction of peptides, hormones and neurotransmitter receptors in multiple tissues. Key features of PHP include Albright Hereditary Osteodystrophy (AHO) and biochemical...
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ورودعنوان ژورنال:
- Indian pediatrics
دوره 49 8 شماره
صفحات -
تاریخ انتشار 2012