Endocrine Abstracts

Background: Thyrotropinomas (TSHomas) are traditionally considered a rare, albeit important cause of thyrotoxicosis. Although early case series reported a predominance of invasive macroadenomas, emerging evidence suggests microadenomas are being increasingly diagnosed, and the clinical/biochemical phenotype appears to be more variable than previously suspected. We therefore performed detailed phenotyping of patients referred to our centre with a diagnosis of TSHoma over a 4-ye...

Visfatin/pre-B-cell enhancement factor is an adipocytokine, which is found in the visceral fat tissue and enhances the growth of precursor of B cells through showing synergy with IL7 and stem cell factors. Other cytokines released from the adipose tissue are TNFα and IL6, which has been shown to be related with pathogenesis of insulin resistance, diabetes, dyslipidaemia, inflammation, and atherosclerosis. Our aim was to determine the relationship of plasma visfatin/pre-B-...

Obesity is a chronic relapsing disease with significant adverse implications for current and future health. Whilst guidelines recommend first line treatment with lifestyle interventions that include restriction of energy intake, increased physical activity and behavioural modification, these only demonstrate an average decrease of 3–5% initial body weight over 12 months, and weight regain is common. Bariatric surgery is effective, but is generally only offered to people w...

Background: LHX4 encodes a member of the LIM-homeodomain transcription factor protein family that is required for development of the pituitary gland. To date, only incompletely penetrant heterozygous mutations in LHX4 have been described in patients with variable combined pituitary hormone deficiencies (CPHD).Objective/hypothesis: To investigate a cohort of patients with congenital hypopituitarism for mutations in LHX4.<p c...

Introduction: Medical therapy of acromegaly is indicated in patients who failed to achieve remission after surgery, with contraindication or refusal for surgical therapy or following radiotherapy in order to bridge the interval until complete remission.Objective: Evaluate the medical therapy – somatostatin analogs (SSA), dopamine agonist (DAs) and GH receptor-antagonist (Pegvisomant) – in acromegalic patients followed from 1988–2011.<p...

Resistance to thyroid hormone (RTH) is usually due to heterozygous mutations in THRB gene with rare cases being homozygous for receptor defects. We describe an RTH case due to a homozygous TRβ mutation (R243Q).The Proband (male, 8.4 years), was born at term with low birth weight (1.9 kg) to consanguineous parents. He has a prominent nasal bridge, goitre, low body weight (10th centile), recurrent tonsillitis, hyperactivity and has mild hearing impair...

Background: Maternal thyrotoxicosis affects 0.2% of pregnancies. Pharmacological treatments include carbimazole, methimazole and propylthiouracil. The Endocrine Society recommends the use of propylthiouracil as first line during pregnancy, because of possible associations between carbimazole and congenital anomalies. However, recent reports link propylthiouracil to liver injury in adults, children, pregnant women and fetuses, raising questions over its safety.<p class="abs...

Background: The term “neuro-cardio-facial-cutaneous (NCFC) syndrome” describes a group of phenotypically overlapping syndromes that result from germline mutations in genes of the RAS-MAPKinase pathway. This pathway plays a role in growth factor signalling and short stature is a consistent feature of NCFC syndromes. This diagnostic group includes Noonan syndrome (NS) and cardio-facio-cutaneous (CFC) syndrome. Growth hormone (GH) has been used with good effect in NS. T...

In peripheral target tissues, levels of active glucocorticoid hormones are controlled by 11β-hydroxysteroid dehydrogenase type 1 (11β-HSD1) which catalyses the reduction of cortisone to cortisol within the endoplasmic reticulum. For functional 11-ketoreductase activity, 11β-HSD1 requires the NADPH-generating enzyme hexose-6-phosphate dehydrogenase (H6PDH). Loss of 11-ketoreductase activity results in increased cortisol clearance and activation of the HPA axis wi...

The liver performs essential functions including the control of blood nutrient levels; the synthesis of many blood proteins; the metabolism of bile components and the conversion of ammonia to urea for excretion by the kidney. Impaired urea synthesis is often the cause of coma and death in patients with liver failure. The only treatment for liver failure at present is transplantation.Stem cells may be a promising future resource for the treatment of acute...