Endocrine Abstracts

Introduction: Nephrolithiasis and osteoporosis are more common in people with primary hyperparathyroidism (PHPT), although the clinical factors associated with this risk are not well characterised. Recent evidence has suggested parathyroid hormone concentration, but not calcium, is associated with mortality in PHPT.Methods: Retrospective analysis of all patients presenting to the Edinburgh Centre for Endocrinology & Diabetes wi...

Introduction: The performance of biochemical and imaging investigations in contributing towards successful surgical outcomes is not well characterised in PHPT.Methods: Retrospective analysis of all patients presenting to the Edinburgh Centre for Endocrinology & Diabetes with PHPT between 2006 and 2014 (n = 611). Parathyroid surgery was performed in 44.8%.Results: PTH was greater than 2x ULN in 34...

Oxytocin is a peptide hormone consisting of 9 amino acids, with a mass of 1007 Da. It is synthesised in the hypothalamus and secreted from the posterior pituitary. It has well known roles in lactation and uterine contraction, however it is also thought to act within the brain to influence complex social behaviours such as bonding, empathy, and trust. Recently there has been increasing interest in the potential role of oxytocin in the pathophysiology...

Background: Endogenous Cushing’s syndrome is caused by chronically elevated glucocorticoid levels. The most common etiology is ACTH hypersecretion from a pituitary adenoma; other causes include hypersecretion of cortisol from an adrenal source or ectopic ACTH secretion. Following successful treatment, a period of adrenal insufficiency is expected due to chronic suppression of the HPA axis. Onset and exacerbation of steroid-responsive conditions have been reported followin...

Introduction: Approximately 0.5% of the world population experiences gender dysphoria, a discrepancy between one’s biological sex and gender identity. Transgender men (TM), individuals who were assigned female at birth but who identify as men, can benefit from therapy with testosterone (T) to address gender dysphoria. Although unfavourable changes in lipid profiles have been previously reported, most studies did not show an adverse impact of testosterone treatment on fast...

Aim: Lipedema is a painful fat disorder that affects 11-17% of woman. The diagnosis is based on typical clinical features: bilateral symmetrical disproportionate fatty tissue hypertrophy on the limbs sparing of the hands and feet, feeling of heaviness and tension, easy bruising, transient edema and pain in the affected areas. There are three clinical stages (1, 2 and 3) that refer primarily to appearance of the skin, texture of subdermal tissue and the presenc...

The hepatic enzyme 5β-reductase (AKR1D1) sits at the interface between two metabolic pathways, converting steroid hormones to their inactive 5β-reduced metabolites during steroid clearance, and as a step in the synthesis of bile acids from cholesterol. Both the steroid substrates and the bile acid products of AKR1D1 are potent hormones that regulate hepatic energy metabolism and inflammation. It is not known how these two functions are spatially organised within hepa...

Objective: Growth hormone (GH) and sex hormone replacement therapy (SHRT) are standard treatment for patients with Turner syndrome (TS) that enhances bone mineral density (BMD), puberty, and quality of life. We aimed to evaluate the efficacy of SHRT and GH on BMD in TS patients.Methods: Cross-sectional study was performed in LUHS Kauno Klinikos in 2014–2018. 27 females with TS were enrolled. BMD and Z score...

Background: Turner syndrome (TS) occurs in approximately 1 in 2500 live female births. The frequency of pregnancies in TS patients is 2-5%. However, these pregnancies are at high risk of recurrent miscarriage, malformations in the children and poor cardiovascular outcomes in pregnant TS females.Case presentation: A 34 year-old woman was diagnosed with TS (46XX/46Xr) at age 9. From 16 to 20 years old she was treated with sex hormone replacement therapy an...

Diabetes mellitus is a disease with one of the greatest burdens to both the economy and the individual. Monogenic diabetes mellitus, responsible for neonatal diabetes mellitus and maturity-onset diabetes of the young (MODY), results from one mutation in a single gene. Many of these genes play a role in pancreatic development and their variants can increase risk of type 2 diabetes mellitus (T2DM). Therefore, while the monogenic form of diabetes contributes the least to the over...