Endocrine Abstracts

Background: Familial glucocorticoid deficiency (FGD) is characterised by isolated glucocorticoid deficiency, with preserved mineralocorticoid production. FGD type 2 is caused by mutations in MRAP encoding the melanocortin-2 receptor accessory protein. MRAP has a single transmembrane domain essential to its function in trafficking the MC2R/ACTH receptor. 15 mutations in MRAP have been described, five of which are within the canonical donor splice-site of intro...

Advances in molecular genetics revealed various causes for neonatal diabetes (ND) Wider clinical awareness led to recognition of different phenotypes. In areas like the Gulf, it is expected that the incidence of ND to be higher due to the high frequency of consanguinity. The different ethnic background might result in different causes and phenotypes of ND compared to data reported from the west.We report 19 patients from 11 families with ND. All patients...

Introduction: Our Centre receives international referrals for genetic analysis of children with short stature (SS) and features of GH/IGF-1 insensitivity. Copy number variation (CNV) hasn’t previously been investigated in GH/IGF-1 insensitivity. We hypothesised CNVs contribute to the phenotype in our undiagnosed cohort.Experimental design/methodology: CGH was performed with oligonucleotide array using ~60,000 probes in 60 patients (38 M, mean age 7....

Introduction: Less than 20% of congenital hypothyroidism (CH) has a known genetic aetiology; thyroid transcription factor mutations (PAX8, Nkx2.1, Nkx2.5, FOXE1) or biallelic TSHR mutations cause <5% of thyroid dysgenesis (TD), whereas mutations in genes mediating thyroid hormone biosynthesis (TPO, TG, DUOX2, DUOXA2, IYD, SLC5A5, SLC26A4) account for most dyshormonogenesis cases. Increased CH frequency in consanguineous populations, relatives of ...

Background: Lower cut-offs in TSH screening have doubled the incidence of congenital hypothyroidism (CH), particularly cases with an eutopically-located Gland-in-situ (GIS). Although mutations in known dyshormonogenesis genes, or the thyrotropin-stimulating hormone receptor (TSHR) may underlie such cases, these genes have not previously been screened comprehensively in a GIS CH cohort.Study design: We evaluated the relative contribution and mole...