Endocrine Abstracts

Estrogen action is involved in the development and progression of breast cancer. In the present study, we studied the effects of bone morphogenetic proteins (BMPs) on breast cancer cell proliferation induced by estrogen using human breast cancer MCF-7 cells. MCF-7 cells express estrogen receptors (ER)α and β, BMP receptors, and Smad signaling molecules. Estradiol and membrane-impermeable estradiol stimulated MCF-7 cell proliferation. Estradiol also reduced mRNA level...

Introduction: Genetic testing can improve the diagnosis of rare genetic diseases of obesity and identify patients who may benefit from targeted therapeutic intervention. For example, patients with genetic defects in the melanocortin-4 (MC4R) pathway may present with severe early-onset obesity and hyperphagia. Historically, however, genetic testing in patients with obesity has been limited. The Uncovering Rare Obesity® diagnostic genetic testing program aims to enhance acc...

Introduction: The XX male syndrome occurs in 1 in 20,000 births. This syndrome results from crossover between the X and Y chromosomes, which transfers the sex-determining region of the Y chromosome to the X chromosome. They lack the azoospermia factor region of the Y chromosome, which is essential for spermatogenesis; thus causing infertility.Case Description: 34-year-old gentleman was referred to endocrinology clinic for infertility and semen analysis s...

Introduction: Associations of autoimmune thyroid disease (AITD) with autoimmune gastri-tis and mental disorders have been suggested, but evidence for a connection is lacking.Methods: We compared the co-incidence of parietal cell antibodies (PCA>20 RE/ml), intrinsic factor antibodies (IFA>1.19 AU/ml), vitamin B12 plasma levels (<200 pg/ml) and mental illness in patients with AITD (n=398), e.g. active (TPO+), atrophic (TPO−) and ...

A 5.65-year-old boy was referred with a 2-month history of accelerated growth and pubic hair development. Weight and height were >98th C. Pubertal assessment was G3 PH2 AH1 TV 5 ml/4 ml. There was no family history of precocious puberty. No birthmarks, or abdominal masses were present. Blood pressure was normal. Investigations revealed elevated testosterone (7.1 nmol/l), suppressed gonadotropins (LH <0.2 IU/l), normal 17-OHP, androstenedione and DHEAS, prepubertal LHRH...

Loperamide is a poorly absorbed opioid μ-receptor agonist that is the most commonly used anti-diarrhoeal medication in the UK. Prescription cost analysis from the Department of Health and Social Care Information Centre reported that 1.79 million prescriptions of the drug were issued in 2014 and it is also freely available ‘over the counter’. It is widely believed to be very safe, with constipation as the main side-effect.A 45-year-old man ...

A 34-year-old lady with previous renal stones, constipation and well controlled bipolar mood disorder, on lithium for 13 years, was referred with a high calcium of 2.75 mmol/l (normal range: 2.10–2.58 mmol/l) and raised parathyroid hormone of 9.1 pmol/l (normal range: 1.1–4.2 pmol/l). Urine calcium excretion and TFT were normal.The biochemistry was consistent with primary hyperparathyroidism. A workup for possible underlying MEN syndrome came b...

Not another blood test !Living as a teenager with multiple endocrine neoplasia type 1.Brother and sister Joel (18 years) and Hope (14 years) Russell-Winter share their respective experiences of being diagnosed as teenagers with the rare condition multiple endocrine neoplasia type 1.They believe that the needs and experiences of teenagers are sometimes forgotten during hospital testing, consultations and treat...

Introduction: Paragangliomas (PGLs) are extra-adrenal, neural crest-derived neuroendocrine tumours. There are sympathetic (usually abdominal and thoracic regions) or parasympathetic PGLs (head and neck). Catecholamine excess usually occurs in sympathetic PGLs.Case: A 34-year-old lady initially presented with left-sided neck swelling. She was diagnosed with left cervical PGL which was excised. Twenty years later, she noticed another lump in the same regio...

Obesity is a polymorphic chronic disease with epidemic prevalence. Furthermore, heritability of the weight phenotype is high. However, within the catabolic leptin–melanocortin signalling pathway, which is pivotal for body weight regulation, gene mutations are rare. This indicates that other, non-genetic heritable factors might play a role in the development of obesity, such as epigenetic mechanisms.In a candidate gene approach, we analyzed the funct...