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Med Arch ; 77(1): 70-73, 2023 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-36923733

RESUMEN

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.


Asunto(s)
Hipotiroidismo Congénito , Seudohipoparatiroidismo , Humanos , Lactante , Masculino , Cromograninas , Hipotiroidismo Congénito/diagnóstico , Errores Diagnósticos , Subunidades alfa de la Proteína de Unión al GTP Gs , Seudohipoparatiroidismo/diagnóstico , Seudohipoparatiroidismo/complicaciones
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