Endocrine Abstracts

Background: The most common cause of death in patients with Multiple Endocrine Neoplasia type 2 is medullary thyroid carcinoma. All patients with MEN2 develop this cancer and Prophylactic Thyroidectomy (PT) is recommended to prevent malignant transformation.Method: This study reviews our experience of treating children identified as carriers of a RET mutation diagnostic of MEN-2A. Data was collected by reviewing patient notes and hospital electronic data...

Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disease due in ∼25% of cases to defects in the ACTH receptor (melcanocortin 2 receptor -MC2R). Slow progress in characterization of these mutations has been made in view of the difficulty in establishing a functional heterologous cell transfection system for the MC2R, and the best available models relate to the mouse Y6/OS3 cell lines. However we have shown previously that the melanocortin 2 receptor ...

Primary resistance to Cabergoline occurs in a minority of patients with lactotroph adenomas but the development of late resistance following initial response is an extremely rare phenomenon which has only been reported in very few cases.: We report the case of a 57 year old lady who was presented in 1997 with headaches and visual failure and was found to have a large pituitary mass with compression of the optic chiasm and invasion into the cavernous sinuses bilaterally. Serum ...

Background: Investigating longitudinal changes in serum androgen levels in healthy men in relation to (changes in) body composition, lifestyle factors and intercurrent illnesses.Methods: Longitudinal observational study. 999 healthy men aged 24–46 years of whom 691 were re-evaluated after a mean period of 12 years. Serum SHBG, luteinizing hormone (LH) and follicle stimulating hormone (FSH) levels were measured using immuno-assays. Testosterone (T), ...

IntroductionEven in healthy men, androgen levels start decreasing from early adulthood and these decreases are more pronounced in men with an increasing body mass index (BMI). It is, however, unclear to what extent changes in other indices of body composition and metabolic health are associated with changes in sex steroid exposure in healthy men over time.ObjectiveInvestigating longitudinal changes in body co...

Background: The existing consensus for patients with primary aldosteronism (PA) after unilateral adrenalectomy recommends annual follow-up to rule out persistence or recurrence of the disease.Objectives: The aim of the study was to assess the remission rate in patients with PA ≥1 year after adrenalectomy.Methods: Of the 41 patients who underwent adrenalectomy for PA between 2016 and 2021, 24 had available follow-up data and w...

Introduction: Pathogenic RET mutations cause Multiple Endocrine Neoplasia type 2 (MEN2) and sixty-one have been classified according to their penetrance of MTC. However, this distinct pattern of genotype-phenotype presentations is not always precisely predictable. P.Val804Met, the most frequent mutation in RET, is currently thought to confer a low lifetime risk with later onset of MTC.Methodology: We present demographica...

Background: Inappropriately high aldosterone in patients with primary hyperaldosteronism (PHA) is due to increased aldosterone synthase (CYP11B2) activity. Selective in vivo imaging of overexpressed CYP11B2 in adrenals with positron emission tomography (PET) has not yet been achieved due to close homology of enzymes involved in aldosterone and cortisol (CYP11B1) synthesis.Aim: Synthesize a fluorine-18 labelled highly selective CYP11B2 inhibitor,...

Background: Inappropriately high aldosterone in patients with primary hyperaldosteronism (PHA) is due to increased aldosterone synthase (CYP11B2) activity. Selective in vivo imaging of overexpressed CYP11B2 in adrenals with positron emission tomography (PET) has not yet been achieved due to close homology of enzymes involved in aldosterone and cortisol (CYP11B1) synthesis.Aim: Synthesize a fluorine-18 labelled highly selective CYP11B2 inhibitor, [18...

Introduction: According to the free hormone transport hypothesis, only free testosterone (FT) is considered biologically active. Due to low circulating levels and technical challenges of direct FT measurements, calculators have been developed to estimate FT from serum total T, sex hormone-binding globulin (SHBG) and albumin levels. However, genetic polymorphisms altering SHBG’s binding affinity or capacity might result in calculation imprecisions with consequent incorrect...