Authors: Ritika Singh , Shuchi Mehra , Kapil Bhalla

Abstract

Recurrent Hypocalcemic Tetany in children is an important clinical feature of pseudohypoparathyroidism encompassing a spectrum of rare endocrine disorders characterised by end-organ resistance to parathyroid hormone (PTH). We report a case of a 10-year-old girl with genetically confirmed PHP Type 1a and 1c, presenting with classical features including recurrent hypocalcemic tetany, short stature, and mild intellectual delay. Notably, the child exhibited additional findings of primary hypothyroidism, celiac disease, positive autoimmune markers (ANA, SSA/Ro, Ro-52), congenital heart disease (ventricular septal defect), and Müllerian duct anomalies — features rarely reported in conjunction with pseudohypoparathyroidism. The whole spectrum of these findings cant be explained by GNAS mutation hence underscoring the importance of a multidisciplinary approach and highlights the possibility of blended or complex syndromes when atypical features co-occur in rare monogenic conditions.

Keywords: Pseudohypoparathyroidism, Mayer-Rokitansky-Küster-Hauser, Autoimmune