ESPE Yearbook of Paediatric Endocrinology

Brief Summary: This case-series describes the clinical characteristics and genetics of 8 patients with hereditary hypophosphatemic rickets (HHR). It highlights the challenges faced in diagnosis and management.Hypophosphatemic rickets (HHR) is often underdiagnosed or misdiagnosed, leading to delays in proper treatment. Misdiagnosis can result in inappropriate therapies and worsening of the condition. The cases presented highlight the importance of compreh...