Pseudohypoparathyroidism, Type IB

Alternative Names

  • PHP1B
  • PHP 1B

Associated Genes

GNAS Complex Locus
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WHO-ICD-10 version:2010

Endocrine, nutritional and metabolic diseases

Disorders of other endocrine glands

OMIM Number

603233

Mode of Inheritance

Autosomal dominant

Gene Map Locus

20q13.32

Description

Pseudohypoparathyroidism refers to a heterogeneous group of disorders characterized by resistance to parathyroid hormone (PTH). Pseudohypoparathyroidism type IB is characterized clinically by isolated renal PTH resistance manifest as hypocalcemia, hyperphosphatemia, and increased serum PTH. Biochemical studies show a decreased response of urinary cAMP to exogenous PTH, but normal Gs activity in erythrocytes because the defect is restricted to renal tubule cells. In contrast to the findings in PHP IA, patients with PHP IB usually lack the physical characteristics of Albright hereditary osteodystrophy (AHO) and typically show no other endocrine abnormalities, although resistance to thyroid-stimulating hormone has been reported in PHP IB. However, patients with PHP IB may rarely show some features of AHO. [From OMIM]

Epidemiology in the Arab World

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Other Reports

Saudi Arabia

Maddirevula et al., 2018 reported a male patient with pseudohypoparathyroidism, type IB. Patient had recurrent fractures, scoliosis, osteopenia, and pes planus. His parents were nonconsanguineous. Methylation-specific-MLPA revealed hypomethylation of the maternal GNAS  allele.

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