Pseudohypoparathyroidism presenting in children at a tertiary hospital in Johannesburg, South Africa

Abstract

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 characterised by hypocalcaemia and hyperphosphataemia, with or without a variable expression of physical features. The constellation 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 categorisation 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. The aim of our report is to describe the diverse clinical features, clinical course and genetic testing of nine patients who have been followed up at our paediatric Metabolic Bone Clinic at Chris Hani Baragwanath Academic Hospital in Soweto, South Africa.