Endocrine Abstracts

Introduction: The incidence of Type 1 diabetes (T1D) is rising. The effect of increasing BMI in children has been proposed. A relationship between age of diagnosis of T1D and BMI SDS has been reported by some but not confirmed in all studies. We propose age of diagnosis and autoantibody status may be influenced by BMI and inherited factors relating to BMI and insulin resistance.Methods: BMI SDS was calculated in 230 children with newly diagnosed T1D, 4&#...

MC2R is the smallest member of the GPCR superfamily and belongs to the melanocortin subfamily of receptors. The pituitary hormone ACTH acts through MC2R to induce the intracellular production cAMP and the stimulation of steroidogenesis. We have previously shown that MC2R interacts with a single-transmembrane domain protein called MRAP (melanocortin-2 receptor accessory protein) and is required for the functional expression of MC2R. Both MC2R and MRAP are mutated in the rare re...

Introduction: The Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is an X-linked condition characterised by reduced renal water clearance and hyponatraemia resulting from gain of function mutations in the type 2 Vasopressin (AVP) receptor (AVPR2). Female carriers were thought not to express a phenotype. We describe a kindred with NSIAD, highlighting molecular and physiological characteristics that extend understanding of this condition and of AVP production.<p c...

The common autoimmune endocrinopathies are caused by susceptibility alleles at several genetic loci including MHC, CTLA4, PTPN22 and probably several others. Many of these susceptibility alleles are shared between several different autoimmune disorders including type 1 diabetes, autoimmune thyroid diseases and rheumatoid arthritis. In recent months a novel susceptibility locus was identified in the 5’ end of the Fc receptor-like 3 (FCRL3) gene ...

FGD is an autosomal recessive disorder resulting from resistance to the action of ACTH on the adrenal cortex to stimulate glucocorticoid production. The disease is caused by mutations in ACTHR or MC2R in 25% of cases, termed FGD type 1, and has previously been linked to a locus on chromosome 8q12.2-21.2 in a single family with FGD type 2. We have recently described a novel gene (FGD2) that when defective is a second cause of FGD. Sequencing of this gene in 100 FGD2 patients ha...

Familial expansile osteolysis is a rare autosomal dominant disorder of bone, first described in a kindred from Northern Ireland in 1988. There are histological similarities to Paget's disease but the disorder typically presents in the young.Case report: Our patient presented at 15 years of age with sensorineural hearing loss, skeletal pain, gingival hypertrophy and mobile teeth. Neither parent was similarly affected. Radiographs demonstrated tooth root r...

The immune dysregulation, polyendocrinopathy and enteropathy, X-linked syndrome (IPEX), is a rare and devastating condition of male infants. Immune mediated diabetes and enteropathy occur before 6 months of age and other manifestations include hypothyroidism, recurrent infections and eczema. In 2001, IPEX was mapped to Xp11, an orthologous region to that for the murine model of T cell dysregulation, scurfy, and mutations in the forkhead transcription factor gene, FOXP3,...

Central precocious puberty (CPP) is a common and well-recognised condition characterised by premature activation of the hypothalamic-pituitary-gonadal axis, with consequent potential adverse health and psychosocial outcomes. Standard management of CPP is with periodic injections of gonadotropin-releasing hormone analogue therapy. Decapeptyl SR (Triptorelin pamoate) has for several years been available as a long-acting (12-weekly, 11.25 mg) preparation, but more recently is ava...

Familial Glucocorticoid Deficiency (FGD) [OMIM #202200] is an autosomal recessive disorder resulting from resistance to the action of adrenocorticotropin (ACTH) on the adrenal cortex to stimulate glucocorticoid production. It has previously been linked to mutations in the ACTH receptor (ACTHR) [FGD type 1] and a locus on chromosome 8q, but 70% of cases have no known cause. The aim of this study was to identify additional loci and genes for FGD using a linkage mapping strategy....

Introduction: Duchenne muscular dystrophy (DMD) is associated with progressive decline in muscle function and loss of ambulation in the teenage years. Objective assessments of upper limb performance are required but functional assessments and magnetic resonance imaging (MRI) are time consuming and costly. ACTIVE-seated (Ability Captured Through Interactive Video Evaluation) is a fun, inexpensive, movement tracking video game that can measure Functional Reaching Volume (FRV). <...