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Case Report

Med Arch. 2023; 77(1): 70-73


Infant With Pseudohypoparathyroidism Type 1a, Misdiagnosed as Congenital Hypothyroidism

Wessal Al Sakran, Mohammed Al-Qahtani, Mohammad Alkhalifa, Ali Alqahtani.




Abstract

Background: Hypothyroidism is a manifestation of multi-hormonal resistance in pseudohypoparathyroidism type Ia (PHP Ia). Objective: The aim of this article was to present 9 months old male patient as case of congenital hypothyroidism.Case report: We describe a 9 months old male diagnosed with congenital hypothyroidism at age 1.5 month, who developed later (at age 5 months) cyanotic attack associated with hypocalcaemia, hyperphosphatemia, and hyperparathyroidism, patient had typical characters of AHO, so the diagnosis of Pseudohypoparathyroidism 1a associated with resistance (TSH) was established. Conclusion: Children diagnosed with PHP 1a should be further evaluated for associated resistance endocrinopathies. The literature on pseudohypoparathyroidism is reviewed with special emphasis on the misdiagnosis with congenital hypothyroidism.

Key words: Pseudohypoparathyroidism (PHP), Albright s hereditary osteodystrophy (AHO), Congenital hypothyroidism, Parathyroid hormone, GNAS.






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