¿Can a genetic condition be diagnosed based on phenotypic characteristics? A case of pseudo-hypoparathyroidism in Ecuador
Pseudohypoparathyroidism (PHP) is a heterogeneous group of disorders which share in common a parathyroid hormone resistance (PTH).
Globally, estimated prevalence is 0.79/100,000 , though it depends on the analysed type of PHP, and it oscillates between 6.7 and 3.3 cases per million inhabitants in Italy  and Japan  respectively. Between 2000 and 2019, 325 cases  have been described in worldwide literature, most of them in developed countries, in which in addition, PHP subtypes have been documented throughout genetic studies. 1a subtype is the most common, representing 70% of the cases . 47 cases have been reported in Latin America between 2000 and 2020 [5-10], the most frequent subtype being 1b, followed by 1a and 1c. Due to a lack of genetic studies, in some cases is not possible to precisely ascertain the belonging to one or another subtype .