Endocrine Abstracts

Background: Laron syndrome (LS) is an autosomal recessive disease characterized by severe postnatal growth failure, short stature, normal or elevated serum GH, and low levels of IGF-I and IGF binding protein-3 (IGFBP-3). The disorder is caused by dysfunction of the growth hormone receptor resulted from mutations in GHR gene.Objective: Purpose of this research was to describe mutations on GHR gene in five children with Laron syndrome.<p class="abstext...

Background: CYP11A1 encodes the P450 side chain cleavage enzyme (P450scc) responsible for initiating steroidogenesis and classically gives rise to disordered sex development plus adrenal and gonadal insufficiency. The rs6161 variant in exon 5 of CYP11A1 (c.940G>A; p.E314K) has previously been considered as ‘benign’. When next generation sequencing was performed in patients with primary adrenal insufficiency of unknown etiology the rs6161 variant was foun...

Background: CYP11A1 encodes the P450 side chain cleavage enzyme (P450scc) responsible for initiating steroidogenesis and classically gives rise to disordered sex development plus adrenal and gonadal insufficiency. The rs6161 variant in exon 5 of CYP11A1 (c.940G>A; p.E314K) has previously been considered as ‘benign’. When next generation sequencing was performed in patients with primary adrenal insufficiency of unknown etiology the rs6161 variant was foun...