Authors: Ritika Singh , Shuchi Mehra , Kapil Bhalla

Abstract

Background: 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).
Case presentation: 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.
Conclusion: The co-existence of autoimmune endocrinopathy, congenital cardiac defect, and Müllerian anomaly in our patient raises the possibility of an expanded phenotypic spectrum or dual genetic pathology. The constellation of findings in this child may suggest either an represent coincidental conditions or a blended/dual genetic diagnosis.

Keywords: Pseudohypoparathyroidism, Mayer–Rokitansky–Küster–Hauser, Autoimmune, case report.