Endocrine Abstracts

The observed association between thyroid disorders and breast cancer has provoked many investigations. One area where there is some, although far from universal, agreement is the finding of an increased prevalence of anti-thyroid autoantibodies in breast cancer patients compared to controls. Whether this is a feature of a generalised autoimmune response to breast cancer, or provoked by the enzyme thyroid peroxidase acting as an autoantigen, remains unclear. In this study we lo...

Objective: To evaluate prospectively the relationship between Yersinia Enterocolitica (YE) infection and the development of overt autoimmune hypo- or hyperthyroidism (study A) and the de novo occurrence of thyroid antibodies (study B).Subjects and methods: Prospective cohort study of 790 euthyroid women who were 1st or 2nd degree relatives of AITD patients. Follow-up was 5 years, with annual assessments.Study A. Nested case&...

Thyroid eye disease (TED) is clinically evident in 25–50% of patients with Graves’ disease and 3–5% of cases develop severe eye disease. We present a case of very aggressive TED.A 46-year-old gentleman developed graves thyrotoxicosis and was blocked and replaced with carbimazole and thyroxine. He continued to smoke 20 cigarettes/day despite several advises.He developed marked exophthalmos (L>R), chemosis, with re...

Background: Patients with pheochromocytoma/paraganglioma (PPGL) often face difficulties in obtaining timely and accurate diagnosis, as well as in accessing experienced specialists. However, little is known about the experiences of patients in obtaining effective care.Methods: To address this gap and give voice to the patients, we invited potential participants, through social media, email, and the PheoPara Alliance (PPA) website, to complete a 20-min onl...

Gitelman’s syndrome (GS) is a rare autosomal recessive renal tubular disorder caused by defects of thiazide sensitive Na-Cl co-transporter due to mutations of the SLC12A3 gene.We report a case of a 23-year-old woman, who presented with excessive tiredness in her second pregnancy. She had a past history of hypokalaemia in a previous pregnancy (attributed to ‘vomiting’), which required multiple admissions for i.v. potassium replacement despi...

Background: Patients suffering from polycystic ovarian syndrome (PCOS) are warned for arterial disease. We examined the risk of (non)fatal coronary heart disease (CHD) or stroke between PCOS patients and ovulatory, non-PCOS women. Further we assessed the effect of obesity on this riskMethods: We performed a systematic review and meta-analysis of controlled observational studies. Four definitions of PCOS were considered: WHO type II anovulation (1976), NI...

Introduction: Local androgen synthesis in prostate cancer (PC) could contribute to the development of castration-resistant PC (CRPC). Pathways controlling intratumoral steroidogenic enzyme expression in PC are unknown. Since activin has been implicated in regulation of PC growth and steroidogenic enzyme expression in other steroidogenic tissues, we investigated the effect of activin on intratumoral steroidogenesis in PC.Methods: Activin A effects and reg...

Background: Glucocorticoids play a key role in determining body fat distribution. Excess circulating glucocorticoids lead to intrahepatic fat accumulation. Obesity is associated with enhanced glucocorticoid production but this is offset by enhanced degradation such that circulating steroid concentrations are normal. However, tissue-specific pathways may lead to different degrees of cortisol exposure in different organs. Local steroid exposure in the liver is determined by the ...

Background: Untreated Cushing’s disease has a high mortality rate. Transsphenoidal surgery is usually first line treatment and in the hands of a skilled experienced surgeon can achieve a cure rate of up to 80%. For those with recurrent or un-resectable disease, a combination of external beam radiotherapy, stereotactic radiotherapy, repeat transsphenoidal surgery, bilateral adrenalectomy and chemotherapy may be used. We investigated the safety and efficacy of stereotactic ...

Background: Accurate genetic diagnosis is essential in disorders of sex development (DSD), guiding medical management and enabling optimal personalized care delivery.Case presentation: Two siblings (I and II) with a family history of 17β-hydroxysteroid dehydroxygenase (17β-HSD3) deficiency presented postnatally with isolated labial swelling. Karyotype was 46,XY and urinary steroid profile (USP) normal. HCG-stimulated testosterone/androstenedion...