ESPE Abstracts

Background: PROP-1 gene mutations are responsible for most of the cases of multiple pituitary hormone deficiencies (MPHD).Objective and hypotheses: We performed to evaluate the final adult height (FAH) in a group of patients with a PROP-1 gene mutations. Twenty-five patients (11 males) with a PROP-1 gene mutation, not treated before, were recruited. All the patients had been treated with a fixed rhGH dose (0.033 mg/kg per day) for 10.5 years (7.0–11...

Background: Pseudohypoparathyroidism is a group of rare disorders characterized by tissue insensitivity to PTH and Albright hereditary osteodystrophy (AHO) due to inactivating mutations or epigenetic defects of the GNAS.Objective and hypotheses: Clinical features and molecular characteristics of patients with PHP have been examined.Method: We included 28 patients from 26 families with PHP1a and 1b. GNAS mutation analysis w...

Background: 80–85% of cases of congenital hypothyroidism (CH) are shown to be due to thyroid dysgenesis, while 15–20% are due to dyshormonogenesis. At least 12 candidate genes are associated with congenital hypothyroidism (CH), however its molecular basis is defined in fewer than 10% of the patients (ESPE consensus, 2014). Recent studies suggest that using a next generation sequencing (NGS) approach may increase the mutation yield in CH.Objecti...