A family of Pseudohypoparathyroidism: report on a family with affected three members

Pseudohypoparathyroidism (PHP) represents a group of disorders due to end organ resistance to the actions of parathyroid hormone (PTH) and abnormalities in the PTH signalling pathway. PHP is characterized by hypocalcaemia and hyperphosphataemia, with or without a variable expression of physical features. The constellations of these physical features together are termed Albright hereditary osteodystrophy (AHO). PHP and related disorders are primarily clinical diagnoses in our setting as confirmatory laboratory testing is not widely available. Molecular genetics is the gold standard for confirmation and categorization of PHP into the different subtypes, but with recent advances in molecular diagnostics a pathophysiological approach appears to be more practical in the clinical setting. We present here the clinical course of a family of Pseudohypoparathyroidism who have been followed up at Paediatric Department of our hospital. The cases responded well with calcium and calcitriol supplementation without access to genetic testing in our hospital.