hrp0086p2-p647 | Growth P2 | ESPE2016

Final Adult Height (FAH) in Patients with PROR-1 Gene Mutations during GH Long-Term Therapy

Anna Gavrilova , Elena Nagaeva , Tatiana Shiryaeva , Valentina Petekova , Ivan Dedov

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...

hrp0086p1-p696 | Endocrinology and Multisystemic Diseases P1 | ESPE2016

Variable Phenotype and Genetic Findings in a Cohort of Patients with Pseudohypoparathyroidism

Makazan Nadezhda , Orlova Elizaveta , Kareva Maria , Kalinchenko Natalia , Tozliyan Elena , Dedov Ivan , Peterkova Valentina

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...

hrp0084fc13.3 | Thyroid | ESPE2015

Targeted Next-Generation Sequencing Demonstrates High Frequency of ‘Dyshormonogenesis Genes’ Mutations in Severe Congenital Hypothyroidism

Makretskaya Nina , Bezlepkina Olga , Kolodkina Anna , Kiyaev Alexey , Vasilyev Evgeny , Petrov Vasily , Kalinenkova Svetlana , Duhoreva Olga , Malievsky Oleg , Dedov Ivan , Tiulpakov Anatoly

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...