Endocrine Abstracts

Melanocortin receptors (MCS, MC1–MC5) are GPCRs, activated with different affinities by the melanocortin peptides (α-, β-, γ-MSH and ACTH). They are widely distributed throughout the body displaying a multitude of actions however their role in reproductive physiology is unclear. Previously, we have shown a reduction of pituitary hormone content and abnormalities in testes morphology in male MC3 null mice. The aim ...

Introduction: Cushing’s syndrome is a rare and life-threatening paediatric disease, the diagnosis of which can be challenging given its heterogeneous clinical presentation and the investigation results which are frequently inconclusive.Aim: To assess the reliability of the tests used for screening and for establishing the aetiology of Cushing’s syndrome.Design: We conducted a retrospective study analyzing cases of Cushing...

Introduction: A once-daily modified-release formulation of hydrocortisone (Plenadren®) has been developed to better mimic physiological cortisol secretion in the treatment of patients with adrenal insufficiency (AI). Here, we describe EU-AIR, an ongoing post-authorization observational study (registry) designed to collect information on AI management and to assess the long-term safety of Plenadren® compared with traditional glucocorticoid replac...

Introduction: Identification and treatment of central hypothyroidism in hypopituitarism is crucial particularly in patients with significant lethargy under consideration for GH replacement. Early Identification of TSH deficiency can be challenging particularly when both the TSH and fT4 lie within the normal range.Methods: 26 362 TFTs derived from ambulatory community dwelling individuals represented the control group. TFTs from 227 patients with a putati...

Introduction: Identification and treatment of central hypothyroidism in hypopituitarism is crucial particularly in patients with significant lethargy under consideration for GH replacement. Early Identification of TSH deficiency can be challenging particularly when both the TSH and fT4 lie within the normal range.Methods: 26 362 TFTs derived from ambulatory community dwelling individuals represented the control group. TFTs from 227 patients wi...

Background: Approximately 1000 children per annum born small for gestational age (SGA) will fail to catch-up and become eligible for GH treatment. The reason for this failed growth is often not defined. Understanding mechanisms that cause growth failure in SGA and finding potential biomarkers of poor growth is therefore important. We are using the new technique of Metabolomics as one avenue to address this. Metabolomics is the quantification of small molecule metabolites in a ...

Introduction: 3-M syndrome is an autosomal recessive disorder characterised by pre- and postnatal growth restriction, characteristic facial dysmorphism, normal intelligence and radiological features (slender long bones and tall vertebral bodies). It is known to be caused by mutations in the genes encoding Cullin 7 (a component of the ubiquitination system) and Obscurin like-1 (a cytoskeletal protein). The mechanisms through which mutations in these genes impair growth are uncl...

Carriage of the exon 3 deletion in the GH receptor (GHR) gene has been reported to enhance growth response to GH therapy. JAK2 and PI3K are involved in signal transduction from the GH (JAK2/PI3K) and IGF1 (PI3K) receptors. We have investigated whether a single nucleotide polymorphism within these genes influences growth response to GH therapy. DNA was taken, with ethical approval, from 104 children treated with GH therapy. Diagnoses were: GHD (n=44), TS (n=23), S...

Ubiquitination (Ub) is the process that controls the level and activity of cellular proteins. Mono-ubiquitination of a protein alters its function, while poly-ubiquitination targets a protein for degradation (as the ‘kiss of death’). Alterations in the Ub system are associated with a wide range of disease, e.g. cancer, neurological diseases and viral infection.Disorders of growth where the phenotype is primarily short stature are usually caused...

In patients presenting with a diffusely enlarged hard thyroid gland the differential diagnosis lies between thyroid carcinoma, lymphoma, and Riedel’s thyroiditis. We present a case of Riedel’s thyroiditis with multifocal nodular sclerosis, which improved with levothyroxine replacement.A 40-year-old woman presented with a 3 months history of neck swelling, dysphagia and breathlessness on exertion. Examination revealed a hard, fixed, diffuse goit...