Endocrine Abstracts

A 29 year old male and his wife presented with an 18 month history of primary infertility. History and initial investigations suggested no major female component but a semen analysis revealed azoospermia. There was no history of any sexual dysfunction and neither partner was receiving any medication. Clinical examination revealed normal secondary sexual characteristics. Both testicles were of normal consistency with a volume of approximately 15mls but a 4x2cm mass was palpable...

Introduction: Metabolic disorder has been frequently observed in chronic obstructive pulmonary disease (COPD) patients. In particular, metabolic comorbidities exert a major impact on patients’ morbidity and mortality. Diabetes mellitus, dyslipidemia and osteoporosis are among the most commonly reported metabolic comorbidities in patients with chronic lung disease. COPD patients with comorbidities, such as metabolic disease, are generally more dyspnoeic and have worse hea...

Defects in any of the four functional domains of the androgen receptor (AR) (resulting from loss-of-function or gain-of-function mutations), may affect androgen action. Specific AR splice variants have been reported in women with PCOS (Wang et al, PNAS 2015 112 4743). In this study we sought to identify AR splice variants in granulosa-lutein (GL) cells of women with and without PCOS and to assess their functional significance. GL cells were ...

Purpose: To present a rare case of diabetic ketoacidosis due to thyrotoxicosis and massive pulmonary embolism.Case presentation: A 40-year-old man from Cameroun, with history of type 2 diabetes treated with gliclazide and metformin, presented with vomiting and abdominal pain. His vital signs were: blood pressure 140/80 mmHg, heart rate 184 beats per minute and temperature 38.2 °C. On admission, laboratory investigation revealed hyperglycemia, hypero...

Introduction: Maturity Onset Diabetes of the Young (MODY) constitutes a genetically and clinically heterogeneous type of Monogenic Diabetes (MD). It is characterized by autosomal dominant inheritance, early onset diabetes, defect in the β-cell insulin secretion, positive family history, absence of diabetic ketoacidosis, auto-antibodies and insulin resistance. To date, 14 different MODY subtypes have been reported each one with distinct genetic etiology, however MODY patie...

Aim: Primary goal was to determine whether the improvement of HbA1c, observed in inefficiently insulin-treated diabetes mellitus (DM) patients on a telemonitoring system, had a lasting effect following its discontinuation.Methods: Forty-seven DM patients (mean age 56.15±15.86 years, mean BMI 29.44±6.69 kg/m2, mean HbA1c 9.9±2.62%) and 25 insulin-treated matched controls (mean age 56.16±20.11 years, mean BMI 27.6±5.18 k...

Introduction: Insulin autoimmune syndrome (IAS) is characterized by spontaneous hypoglycemia caused by insulin autoantibodies (IA) in the absence of exogenous insulin administration. The occurrence of IAS may be influenced by a genetic predisposition determined by HLA class II. IAS is frequently reported in Japanese and Koreans due to their genetic predisposition (HLA-DRB1*0406) rather than in the Caucasians. Some drugs containing sulfhydryl compounds are known to initiate the...

Introduction: Adrenocorticotropin (ACTH)-independent macronodular adrenal hyperplasia (AIMAH) is a rare cause of Cushing’s syndrome, commonly involving the aberrant expression of several membrane-bound adrenal receptors. Recent studies have investigated whether the latter is also implicated in the renin-independent aldosterone secretion of hyperaldosteronism cases.Case report: A 35-year-old man presented to our department for evaluation of new-onset...

Background: Incidentally discovered adrenal adenomas (AA) are associated with increased prevalence of hypertension, obesity, and impaired glucose tolerance, all established risk factors for cardiovascular (CV) morbidity. However, most studies were performed in patients with AA and autonomous cortsisol and/or aldosterone secretion, whereas the presence of cardiovascular risk in patients with non-secreting AA has not been looked into detail.Methods: Cardio...

Introduction: Ganglioneuromas (GNs) are rare, benign tumors, arising from neural crest cells. Their incidence amongst adrenal masses is 0.3%-6%. The majority are incidentalomas and hormonally inactive but a subset may cause compressive effects. Presentation in the context of genetic syndromes (NF1/NF2, RET, MAX, Von Hippel Lindau disease) has been reported. We present two cases of adrenal GNs: Case 1. A 31-year-old female patient who presented with a history o...