Endocrine Abstracts

Recent studies in non-hypertensive patients have shown aldosterone renin ratio (ARR) to be heritable and associated with increased risk of blood pressure (BP) elevation. Furthermore, a raised ARR is present in 10% of hypertensive patients although the precise significance of this is unclear. The magnitude of heritability of ARR will indicate the influence of genetic determination of the phenotype. In this study, we estimated the heritabilities of the components of ARR and the ...

Adrenal masses which are found unexpectedly with US or CT examination of abdomen are called adrenal incidentalomas. The aim of study was to evaluate the contribution of imaging characteristics of incidentally discovered adrenal mass to the differential diagnosis.We have studied 60 patients with adrenal mass (21 M, 39 F, age 34–85 years) who had CT scan of abdomen for various diagnoses but they were not suspected to have adrenal pathology. The right ...

Purpose of study: The study was focused on MRI of morphological changes of pituitary gland, pituitary fossa and surrounding structures in patients with primary growth failure. We evaluated MRI, clinical status and hormonal changes in 18 patients with primary growth failure referred to University Hospital.Methods and patients: We examined 18 patients (10 male, 8 female), average age 18.3 (2–34) years. All patients had a severe growth hormone deficien...

Introduction: Sarcoidosis is a systemic disease of unknown aetiology, characterized by non-caseified granulomatous reaction that can involve multiple organs. The disease typically presents with pulmonary infiltrates, bilateral hilar and mediastinal lymphadenopathy and uveitis, but may also less frequently affect other organs, including the hypothalamic-pituitary axis. Malignancy rates in sarcoidosis patients have been reported as 1 to 2%1,2, chronic inflammation bei...

Background: TS, resulting from partial or complete loss of an X-chromosome, is a rare diagnosis1. In addition to its well-described phenotypic features2, a number of multi-systemic conditions may develop over the lifespan of a Turner female that require long-term surveillance which is challenging to deliver in today’s ‘specialised’ services NHS.Aim: To evaluate UHL service provision against the only guidelines for the...

Background: nab-Sirolimus, approved in the US for patients with advanced malignant PEComa, is a novel albumin-bound mTOR inhibitor (mTORi) that inhibits the mTOR pathway via suppression of the mTORC1 complex. When TSC1 or TSC2 is inactivated via mutation or loss, the mTOR pathway may be aberrantly activated. TSC1 and TSC2 alterations occur in a range of common cancers. Clinically, in the AMPECT exploratory analysis of nab-sirolimus in advanced malignant PEComa (NCT02494570), 8...

Current therapies for locally advanced or metastatic prostate cancer aim to inhibit androgen receptor (AR) activation directly or by depleting androgens via androgen deprivation therapy. However this therapeutic approach eventually fails in ~80% of patients, leading to development of castrate resistant prostate cancer (CRPC). There are currently few therapeutic options available for CRPC with limited prognostic or predictive biomarkers. The aim of the current study was to dete...

Background: During spermatogenesis protamines replace histones in sperm head. Haploinsufficiency of the protamine (PRM) 1 or PRM2 gene causes infertility in mice. A mutation in PRM1 was associated with increased abnormal sperm morphology in infertile men1. We assessed the frequency of mutations and SNPs in the PRM1 and PRM2 gene in infertile patiens with normal sperm concentration and reduced morphology, a phenotype similar to that...

4-methylbenzylidene-camphor (4MBC) is an endocrine active compound used as an UV absorber in sunscreens and other cosmetics such as anti-aging lotions and day care products. 4MBC shows weak estrogenic effects on the reproductive system but strong anti-osteoporotic effects after chronic application (Seidlova-Wuttke D et al. 2005 Toxicol Appl Pharmacol. 24:in press). Additionally, 4MBC can be resorbed through the skin (Janjua NR et al. 2004 J Invest Dermatol...

Partial lipodystrophy syndromes are characterised by a selective paucity of subcutaneous adipose tissue on the trunk and limbs but excessive fat on the face, neck, supraclavicular areas and pelvis. Metabolic complications include insulin resistance and polycystic ovary syndrome (PCOS). There have been no previous reports of genital disfiguremment in these conditions.We present the case of a 27 years old female, who initially presented to the gynaecology ...