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Article

Diagnosis and approach of pseudohypoparathyroidism type 1A and related disorders during long term follow-up: a case report.

Journal of pediatric endocrinology & metabolism : JPEM - 25 Mar 2024

Expósito Raspeño Mónica, Sánchez Escudero Verónica, Pérez de Nanclares Leal Guiomar, Ortiz Santamaría María, Sánchez-Dehesa Sáez Rosa, García Cuartero Beatriz, González Vergaz Amparo

Abstract excerpt

OBJECTIVES: Pseudohypoparathyroidism type 1A (PHP1A) encompasses the association of resistance to multiple hormones, features of Albright hereditary osteodystrophy and decreased Gsα activity. Little is known about the early signs of PHP1A, with a delay in diagnosis. We report two PHP1A cases and their clinical and biochemical findings during a 20-year follow-up. CASE PRESENTATION: Clinical suspicion was based on...

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PMID: 38353264
DOI: 10.1515/jpem-2023-0454

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