Endocrine Abstracts

Introduction: Mutations in GNAS, affecting the alpha subunit of heterotrimeric G proteins, are implicated in several endocrinopathies. We report a patient with features of both receptor activation and inactivation in association with a novel de novo heterozygous somatic mutation.Case report: Asymptomatic hyponatraemia (Na 117-123) was identified in a male neonate, and treated with sodium supplementation and fludrocortisone. Biochemical data were...

Triple A syndrome (AAAS), a rare and debilitating autosomal recessive disorder. It is characterised by adrenal failure, alacrima and achalasia; ~70% patients develop a neurodegeneration. The AAAS gene encodes ALADIN, a nuclear pore complex (NPC) protein necessary for the selective nuclear import of DNA protective molecules and is important for cellular redox homeostasis. ALADIN’s role is not fully characterised: its discovery at the centrosome and the endoplasmic...

Introduction: 3M syndrome is a rare autosomal recessive condition that causes short stature, unusual facial features and skeletal abnormalities with normal intelligence. Mutations in CUL7, OBSL1 and CCDC8 genes have been identified as pathogenic. GH treatment outcomes for 3M syndrome appear controversial. Use of human recombinant GH for the treatment of short stature has been trialled in previous studies with some suggesting dysregulation in GH/IGF1 axis while others report no...

Background: NICE recommendation is to use multiple daily insulin injections and to offer level 3 carbohydrate-counting education at diagnosis of Type 1 diabetes (T1DM), and at least at annual intervals thereafter. Best Practice Tariff states that every young person with diabetes should be offered at least one additional appointment per year with a paediatric dietitian with training in diabetes. Our aim was to identify details of all the patients in the current cohort who were ...

Background: Previous reports suggest that epilepsy and autism are more common in children with autoimmune diseases such as type 1 diabetes (T1D). While each condition is common in the general population, only small numbers of children have the two conditions together, so there is currently little coordinated support. We sought to describe the incidence in our own population.Methods: Retrospective review of the Diamond database and clinical notes for chil...

Lifelong thyroid health depends on establishment of thyroid gland structure and function during early life development. However, thyroid development can be disrupted and lead to early- or adult life thyroid disorders. Still, the molecular machinery underpinning thyroid gland development remains poorly understood, particularly after the onset of fetal thyroid function. Here we used bulk-RNA-barcoding and sequencing (BRB-seq) to map the thyroid gland transcriptome as it undergoe...

Background: Morbidity and mortality are associated with thyroid hormone levels in populations. This has invited a debate on what is the better parameter for assessment of thyroid function: the controlling hormone thyrotropin (TSH) or peripheral thyroid hormone measurements (thyroxine (T4) and triiodothyronine (T3)).Aim: To assess the ability of TSH and total T4 (TT4) to discriminate between subtle differences in thyroid function.Me...

Objectives: The Danish population was previously iodine deficient with regional differences, and a mandatory iodine fortification of salt was introduced more than 20 years ago. Despite iodine fortification and frequent use of iodine-containing supplements, the iodine status in Danish pregnant women was insufficient when evaluated in 2012 (median urinary iodine concentration (UIC): 101 µg/l). From July 1, 2019 the authorities implemented a mandatory increase from 13 to 20 ...

Queen’s Medical Centre, Nottingham, United KingdomTyrosinemia type-1 is a rare autosomal recessive disorder. It usually presents in an acute form in early infancy. Rarely, it can also present as a chronic form with gradual onset. The key presenting features are failure to thrive, liver dysfunction and/or Fanconi syndrome. We present a perplexing case of a 2-year-old girl with tyrosinemia type-1, who initially presented with failure to thrive and hypophosphatemic rickets w...

Introduction: Evaluating hunger and hyperphagia is an important component of assessing children and young people with obesity. Identifying increased hunger levels will help clinicians and health professionals to taper management aspects including relevant genetic testing and providing tailored dietary and pharmacological management.Aim: The aim of this study was to evaluate the baseline hunger levels in a group of UK adolescents with severe obesity.<...