• África Manero-Azua, Arrate Pereda, Natalia González Cabrera, M Ángeles Martínez de Salinas Santamaría, Alejandro Cámara Balda, and Pérez de NanclaresGuiomarGGrupo de Investigación en Enfermedades Raras, Laboratorio de (epi) Genética Molecular, Instituto de Investigación Sanitaria Bioaraba, Hospital Universitario Araba-Txagorritxu, Vitoria-Gasteiz, Álava, España. Electronic address: g.
• Grupo de Investigación en Enfermedades Raras, Laboratorio de (epi) Genética Molecular, Instituto de Investigación Sanitaria Bioaraba, Hospital Universitario Araba-Txagorritxu, Vitoria-Gasteiz, Álava, España.
• Med Clin (Barc). 2023 Dec 7; 161 (11): 493497493-497.

Background And ObjectiveThe clinical and biochemical overlap of various pathologies of phosphocalcic metabolism can lead to misdiagnosis and consequent clinical management. One example is pseudohypoparathyroidism, which can be confused with vitamin D-dependent rickets (VDDR1) if appropriate biochemical determinations are not performed.Patients And MethodsTwo pairs of siblings, from independent families, were clinically diagnosed in adolescence with pseudohypoparathyroidism due to hypocalcaemia, elevated parathyroid hormone levels and normal or elevated phosphorus values. After ruling out alterations in GNAS, a massive sequencing study of genes associated with other differential diagnoses was carried out.ResultsTwo genetic variants in the CYP27B1 gene potentially associated with the phenotype were identified. Pathogenic variants in this gene are associated with VDDR1A. Clinical-biochemical re-evaluation of the patients confirmed this diagnosis and treatment was adapted.ConclusionsAlthough VDDR1A is an infrequently diagnosed pathology in adulthood, in cases of hypocalcaemia with elevated PTH values, determination of the 1,25(OH)2D3 and 25(OH)D3 forms of vitamin D is relevant to reach a correct diagnosis.Copyright © 2023 Elsevier España, S.L.U. All rights reserved.

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