Abstract

SEGURA MESTANZA, A; CEDENO GERMAN, R  and  LOPEZ GAVILANEZ, E. Can a genetic condition be diagnosed based on phenotypic characteristics? A case of pseudohypoparathyroidism in Ecuador. Rev Osteoporos Metab Miner [online]. 2020, vol.12, n.4, pp.141-145.  Epub Apr 05, 2021. ISSN 2173-2345.  https://dx.doi.org/10.4321/s1889-836x2020000400006.

Pseudohypoparathyroidism is a rare disease of the endocrine gland. Its diagnosis should not be dismissed when hypocalcemia is accompanied by hyperphosphatemia and high levels of parathyroid hormone even if kidney failure and vitamin D deficiency do not occur. Although genetic studies provide a definitive diagnosis, biochemical tests that show hormonal resistance and phenotypic characteristics allow us to establish a diagnosis. Literature is limited in Latin America and few cases have been described. Here we report an 18-year-old male suffering pseudohypoparathyroidism and we discuss clinical characteristics, biochemical and radiographic findings, as well as treatment.

Keywords : Albright's hereditary osteodystrophy; parathyroid hormone resistance; pseudohypoparathyroidism; inactivating PTH/PTHrP signaling disorder; hypocalcemia; brachydactyly; Ecuador.

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