ESPE Abstracts

Background and objective: The first and rate-limiting step of steroidogenesis is the conversion of cholesterol to pregnanolone which is catalyzed by the P450scc side chain cleavage enzyme (encoded by CYP11A1 gene-SCC). Homozygous recessive mutations of the CYP11A1 gene cause a global steroid hormone deficiency thereby disorders of sexual development in 46, XY individuals with a variable phenotype depending on the mutation characteristics. About 60 cases of SCC...

Background: Mutations in CHD7 cause a rare multi-organ system disorder, CHARGE syndrome (CS). Genital hypoplasia has been described in 60-80% of reported cases because of idiopathic hypogonadotropic hypogonadism (IHH), which is a result of inadequate GnRH secretion in the hypothalamus. Correspondingly, IHH and anosmia are expected in cases with CHD7 mutation. However, due to the phenotypic spectrum of CHD7, mutations have also be...

Background: Neonatal diabetes mellitus (NDM), either transient (TNDM) or permanent (PNDM), is a rare form of monogenic diabetes, and usually presents in the first 6 months of life.Objective and Hypotheses: To describe the clinical characteristics and molecular genetics of a large Turkish cohort of NDM from a single centre.Method: NDM patients presenting to Diyarbakır Children State Hospital between 2010 and 2013 were prospecti...

Background/Aim: Diabetes with extra-pancreatic features in children can have a monogenic aetiology. Single gene testing is undertaken when children present with the characteristic clinical features suggestive of the underlying aetiology. We aim to assess the utility of comprehensive genetic testing for all monogenic diabetes genes in children with diabetes and any non-autoimmune extra-pancreatic features from a population with a high rate of consanguinity.<p class="abstext...