Endocrine Abstracts

Glucokinase (GCK) serves as the blood glucose ‘sensor’ in pancreatic β-cells, being critically involved in transducing elevated blood glucose into increased insulin secretion. Inactivating GCK mutations cause a subtype of maturity onset diabetes of the young (MODY), whereas activating mutations are a rare cause of hyperinsulinaemic hypoglycaemia, usually presenting in infancy.We now describe the case of a 60-year-old woman who first presen...

PTTG transforms cells in vitro, is tumourigenic in vivo and regulates secretion of fibroblast growth factor-2 (FGF-2). Critical to transactivation of FGF-2 is PTTG's SH3 interacting domain which encodes the gene's sole phosphorylation site. We explored the mechanisms through which PTTG stimulates FGF-2 expression and cell transformation using specific mutations resulting in unphosphorylated PTTG (phos-), a mimic of constitutive phosphorylation (phos+), and a disr...

Case history: Two unrelated male patients were referred for evaluation of short stature. The first patient aged 16.5 years, had a birth weight of 2.6 kg at term (BWSDS -2.4), height 153 cm (HSDS -3.2) at referral and normal BMI SDS of 0.6. He had early postnatal hypoglycemia, which was conservatively managed, but no other significant clinical history. He had relative macrocephaly and disproportionate short stature. His mother was also short with a similar phenotype (height 147...

Introduction: Abnormal thyroid function is the most common disease in endocrinology and its screening of made by plasmatic (TSH), followed by (fT4) determination if abnormal. (fT3) determination is only used when pathological (TSH) and normal (fT4) are found, even if there is no evidence supporting this procedure, apart from the greater technical difficulty of measuring (fT3) due to its lower plasma concentration.Material and Methods: Observational retro...

Introduction: Micronodular adrenocortical disease is a very rare cause of Cushing syndrome in children. This adrenocorticotropic hormone (ACTH)-independent form of Cushing syndrome is mostly a part of the Carney Complex, which is caused by mutations in the PRKAR1A gene (1). A young female with endogenous ACTH independent hypercorticism without the classical gene mutations in the pigmented and the non-pigmented form of micronodular adrenal disease is presented.<p c...

Objective: Reactive oxygen species and nitric oxide (NO) have recently been considered involved in the cardiovascular complications of patients with type 2 diabetes as NO is supposed to loose its physiological beneficial effects, due to the presence of oxygen radicals. For this reason, we tested the effects of L-arginine (ARG) and N-acetylcisteine (NAC) administration with the aim to increase NO physiological production reducing free radical formation.</p...

Oncogenic activation of MAPK in thyroid cells leads to loss of expression of genes required for thyroid hormone biosynthesis, including the sodium iodide transporter (NIS) and thyroid peroxidase (TPO). Tumors with BRAF mutation have lower expression of NIS, explaining in part why BRAF-mutant PTCs are often resistant to RAI therapy. We developed mouse models of thyroid cancer driven by BRAFV600E, and these tumors also lose the ability to concentrate radioiodine, whic...

Introduction: Premature ovarian insufficiency (POI) is a rare cause of primary amenorrhea (1,2). We report a 16-year-old girl with normal secondary sexual characteristics, but no menses due to an autoimmune POI and associated with autoimmune gastritis. This is the first report of such constellation in an adolescent – both conditions separately already being rare in the pediatric population.Case presentation: A 16-year-old girl was referred to our de...

A case of ectopic ACTH with severe opportunistic infectionECI Hatfield, S Pal, K Meeran, G Williams, JF Todd.Endocrine Unit, Imperial College, Hammersmith Hospital, London, UKA twenty six year old female presented with symptoms and signs suggestive of Cushing's Syndrome. Initial investigations showed hypokalaemia (potassium 2.3nmol/L), elevated urinary free cortisols, (3400, 18,000, 31,000 nmol/24 hour (NR <270)), diabetes (fasting glucose =9 mmol/L), loss of di...

J Wass, Department of Endocrinology, OCDEM, Churchill Hospital, Oxford, UK AbstractJohn Wass is the Professor of Endocrinology at Oxford University and Head of the Department of Endocrinology at the Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital Oxford, UK. He qualified at Guy’s in 1971 and did his endocrine training at Bart’s. He got his MD from the University of London in 1980....