Pseudohypoparathyroidism in Children
نویسنده
چکیده
Albright hereditary osteodystrophy (AHO) is a genetic syndrome characterized by a distinctive set of developmental and skeletal defects that may easily be misdiagnosed as exogenous obesity in children. There are very few publications detailing the comprehensive management of children and adolescents with this disorder. This chapter provides a comprehensive discussion of the various aspects of this disorder. At the end, the reader should be able to: (1) List the clinical features of Albright hereditary osteodystrophy, (2) Identify the genetic and molecular abnormalities of AHO, (3) List the clinical features of pseudohypoparathyroidism type 1a (PHP 1a), (4) Describe the management of children and adolescents with PHP 1a.
منابع مشابه
Pseudohypoparathyroidism, an often delayed diagnosis: a case series
Pseudohypoparathyroidism refers to a heterogeneous group of disorders characterized by parathyroid hormone (PTH) resistance. Pseudohypoparathyroidism is an uncommon sporadic or inherited genetic disorder subdivided into several distinct entities (type Ia, Ib, Ic, type II). We report cases of four children (aged 8 to 13 years) in the winter season 2007-'08. The present work highlights the variab...
متن کاملPseudohypoparathyroidism Type 1A-Subclinical Hypothyroidism and Rapid Weight Gain as Early Clinical Signs: A Clinical Review of 10 Cases
OBJECTIVE To evaluate the clinical signs and symptoms that would help clinicians to consider pseudohypoparathyroidism (PHP) type 1A as a diagnosis in a child. METHODS A retrospective review of the medical records of children diagnosed by erythrocyte Gsα activity and/or GNAS1 gene study and followed-up for PHP type 1A. Clinical and biochemical parameters along with epidemiological data were ex...
متن کاملPseudohypoparathyroidism type 1b with hypothyroidism.
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 hypothyroid...
متن کاملNeurological, Electroencephalographic, and Heredo-famillal Aspects of Pseudohypoparathyroidism and Pseudo-pseudohypoparathyroidism*
The Neurology and Medical Departments of the Detroit Receiving Hospital have recently made clinical and electroencephalographic (E.E.G.) studies of two patients in a family in which several members appear to have either pseudohypoparathyroidism or pseudo-pseudohypoparathyroidism. The findings were of sufficient interest to prompt us to review this subject and to present our findings since the n...
متن کاملJ . Neurol . Neurosurg . Psychiat . , 1960 , 23 , 33 . NEUROLOGICAL , ELECTROENCEPHALOGRAPHIC , AND HEREDO - FAMILLAL ASPECTS OF PSEUDOHYPOPARATHYROIDISM AND PSEUDO - PSEUDOHYPOPARATHYROIDISM
The Neurology and Medical Departments of the Detroit Receiving Hospital have recently made clinical and electroencephalographic (E.E.G.) studies of two patients in a family in which several members appear to have either pseudohypoparathyroidism or pseudo-pseudohypoparathyroidism. The findings were of sufficient interest to prompt us to review this subject and to present our findings since the n...
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