Endocrine Abstracts

The MEN1 gene is located on chromosome 11q13; it spans 9 kb, has ten exons, and encodes a 610 amino acid protein named menin (isoform-2, NCBI Reference Sequence: NP_570711.1). Germline heterozygous inactivating mutations in this gene are observed in 70% of patients with the multiple endocrine neoplasia type 1 (MEN1) syndrome who develop multiple tumours in various endocrine (parathyroid, pancreas, and pituitary) and non-endocrine tissues with loss of the remaining nor...

A 29 year old gentleman was referred for investigation of subfertility and hypogonadism. He gave a history of normal erections and libido but had never shaved in his life. Though he denied anosmia, his maternal uncle had a poor sense of smell and his great uncle had needed to adopt children. He was markedly undermasculinised with micropenis and an empty scrotal sac. Neurological assessment showed subtle features of bimanual synkinesis (mirror movements), suggesting X-linked Ka...

Background: Adreno cortical carcinoma (ACC) is a rare malignancy associated with aggressive biological behavior and poor outcome. The reported incidence in literature is about approximately two cases per million population’s.These tumors might be functional or non-functional depending on their ability to secrete various adrenocortical hormones. ACC occurring in children and adults show distinct characteristics and there is not much literature regarding the differences. Si...

Case history: A 33 year old lady with irregular menstrual cycles and infertility presented to gynaecologist with recurrent abdominal pain and bloating. Her pain was found secondary to bilateral ovarian cysts. She had repeated laparoscopic ovarian cystectomies since 2018. In December 2021, modest hyperprolactinemia (1065MIU/L, RR 102-496) with negative macroprolactin test was noted, and MRI pituitary revealed 18x17x13mm pituitary macroadenoma. Cabergoline was started and she wa...

Background: Immune checkpoint inhibitors have demonstrated significant advances in the treatment of several cancers including metastatic melanoma. However, they are frequently associated with immune-related adverse events which often require treatment with prolonged courses of glucocorticoids. Long-term glucocorticoid use is associated with several side effects including hyperglycaemia.Aims: 1) To determine the prevalence of glucocorticoid use in patien...

Case presentation: 73-year-old diabetic, hypertensive and alcoholic Male on treatment for type II diabetes for 25 years, underwent amputation of left great toe and second toe previously had sudden painless swelling of the left foot after a walk. He was diagnosed to have Charcot’s foot and had the appearance of bag of bones in CT scan. He was managed conservatively with immobilization and Custom made shoes.Discussion: Charcot foot is a sudden soften...

A 43-year-old policeman was referred for investigation of recurrent symptomatic hypomagnesaemia. He initially presented with a one week history of dizziness, headaches, and ‘funny turns,’ on a background history of bronchial asthma, reflux oeosphagitis and hypertension. Initial investigations demonstrated hypocalcaemia, hypomagnesaemia and hypophosphataemia. These disturbances were attributed to his thiazide diuretic which was subsequently discontinued; his symptoms ...

Background and Objective: CB1 antagonism may have potential benefits in the metabolic syndrome, with effects mediated through central orexigenic mechanisms and peripheral action on adipose tissue. We have previously described the effects of CB1 activation/inactivation on murine white preadipocyte 3T3-L1 proliferation; we now extend these studies to human tissue.Method: Ethical approval was obtained for this study. Human preadipocytes were isolated from w...

BackgroundCannabinoid (CB) receptors are expressed in adipocytes. CB1 antagonism may have potential in the metabolic syndrome, with effects mediated through central orexigenic mechanisms and via peripheral action on white adipose tissue (WAT). Equivalent studies in brown adipose tissue (BAT) are lacking.ObjectiveWe aimed to compare CB1 and CB2 receptor expression during WAT and BAT adipogenesis and to investi...

Introduction:Hypothyroidism may be associated with bradycardia, low voltage complexes,ST-T wave changes, atrioventricular and intraventricular conduction disturbances. Extrasystoles and tachyarrhythmias of both atrial and ventricular origins have been described in hypothyroidism with the ventricular tachyarrhythmias associated with prolonged QT interval.Aims: To ascertain the prevalence of cardiac arrhythmias in primary hypothyroidism.<p class="abste...