Endocrine Abstracts

Background: Fatty acid desaturase 1 (FADS1) gene controls the fatty acid metabolism pathway in the human body (Sergeant et al., 2012). Single nucleotide polymorphism (SNP) in FADS1 gene and percentage of polyunsaturated fatty acids inserum lipids was associated (Klingel et al., 2018). Genetically predisposition to higher plasma arachidonic and stearic acid levels were associated with incidence oflarge-artery stroke and venous thromboembolism...

Silibinin, a milk thistle extract with known hepatoprotective effects, has recently been shown to act upon tumoral corticotropes and revert the Cushingoid phenotype in an allograft mouse model (Riebold et al. 2015). Silbinin is known to inhibit HSP90 -a chaperone to the glucocorticoid receptor-thereby restoring sensitivity to glucocorticoid negative feedback in tumoral corticotropes. Aim of the present study was to assess the effect of silibinin on ACTH synthesis and ...

Hyperprolactinemia is one of the most common problems in clinical endocrinology. It relates with various etiologies (physiological, pharmacological, pathological), the clarification of which requires careful history taking and clinical assessment.We present the case of a 15-year-old girl, with history of secondary amenorrhea and headache in the presence of mildly elevated prolactin level, diagnosed as a microprolactinoma on MRI scan (4–5 mm) and tr...

Introduction: According to the results of several studies and meta-analyses, certain ultrasound features are associated with increased risk of thyroid malignancy. However, most of those research papers included mainly papillary thyroid cancers (PTCs); these results cannot be simply extrapolated for the differentiation of follicular thyroid adenomas and cancers (FTAs and FTCs). The aim of the present study was to perform a meta-analysis of so far conducted research and identify...

Background: Quality of life (QoL) has been variously reported as normal or impaired in congenital adrenal hyperplasia (CAH) adults. We found impaired QoL in UK CAH adults (Arlt et al. Journal of Clinical Endocrinology and Metabolism 2010 95 5110–5121) and now report the relationship between QoL (SF-36) and health outcomes in these patients.Methods: Cross-sectional analysis of 151 CAH adults with 21-hydroxylase defi...

Background: Triple A syndrome is a rare, autosomal recessive cause of adrenal insufficiency. Additional features include alacrima, achalasia of the oesophageal cardia, and neurodegenerative disease in 60%. The AAAS gene product is the nuclear pore complex protein ALADIN of unknown function. AAAS patient dermal fibroblasts have been described as hypersensitive to oxidative stress1,2,3.Objective: To establish a better disease model by kno...

We describe the use of plasmapheresis for pre-operative stabilisation in a case of refractory Grave’s thyrotoxicosis. Our case is a 21 year woman with 12 month history of severe Grave’s disease. Her serum freeT4 was >100 pmol/L (ref.range 11–24) and TSH <0.014 mU/L at diagnosis, had no goitre and negative thyroid peroxidase antibodies. Thyroid uptake scan confirmed Grave’s disease. She was treated with carbimazole 60 mg daily and propranolol. She re...

We report a case of a female patient who initially presented aged 35 yr with shortness of breath and type 2 respiratory failure at 12 weeks of her pregnancy. She was previously known to have a multinodular goitre under another hospital, which had been stable for several years, and had no other medical problems. Clinically and biochemically she was euthyroid (free T4 12.6 pmol/L [11.0–23.3], TSH 0.42 mu/L) and there were no signs of obstruction. An ultrasound scan showed a...

The wealth of new information, published over the past two decades, has led an international committee (under the auspices of the American Endocrine Society) to propose clinical guidelines for the management of thyroid diseases associated with the pregnant state. These guidelines were reviewed and endorsed by the four world Thyroid Associations (ETA, ATA, LATS, AOTA) and the Endocrine Society. They have been published in August 2007 as a supplement to the Journal of Clinical E...

Recent research in male reproductive disorders has revealed that testicular germ cell cancer, undescended testis, poor semen quality and hypospadias may be biologically linked as a testicular dysgenesis syndrome (TDS). The evidence comes from a number of clinical, epidemiological and experimental animal studies, which are in line with the hypothesis that these disorders are of fetal origin. Core evidence comes from studies of the precursor to testicular germ cell cancer –...