Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy: A Case Report and Literature Review

Abstract

Introduction: Pseudohypoparathyroidism (PHP) is a rare disease and the first example of hormone resistance to be observed. It combines a particular morphotype, subcutaneous calcifications and bone and kidney resistance to parathyroid hormone. Other hormone resistances are possible. Case Presentation: Patient of 16 years old, had a progressive onset of right foot/ankle deformity at age of 12 years, then 6 months later contralateral ankle deformity, associated to Macrocrania, rounded forehead, enlarged nose, micrognatism, short neck, brachydactyly, deformities, Genu valgum. Workup; corrected hypocalcaemia 46.9mg/l hyperphosphaemia 66mg/l high PTH 1739pg/ml, normal renal function. Diagnosis retained: Pseudohypo-parathyroidism Type 1A or 1C associated with Albright hereditary osteodystrophy (AHO), genetic confirmation in progress. Discussion & Conclusion: PHP is a rare autosomal dominant inherited disorder of variable penetrance and expression, most severe when maternally inherited. Genetic studies have identified inactivating mutations in Gs-alpha, encoded by the GNAS gene, responsible for several phenotypes. Management consists of multidisciplinary follow-up and early and specific interventions. Prognosis is variable, normal life expectancy in mild forms, significant morbidity and mortality in severe forms.