Endocrine Abstracts

Introduction: Familial hypocalciuric hypercalcaemia (FHH) is commonly caused by mutations in the CASR gene, less commonly in AP2S1 and rarely in GNA11. Only four FHH-associated loss-of-function variants have been reported in GNA11 to date.Clinical Case: A 30-year-old woman investigated for migraines and paraesthesia in hands and feet was noted to have ionised calcium of 1.38 mmol/l (ref 1.15-1.33 mmol/l), PTH of 5.6 pmol/l (ref 1.6-6.9 pmol/l), and 25-hy...

Patients with craniopharyngioma suffer from excess mortality and morbidity, especially patients with childhood onset of the disease. The impaired outcome in these patients is in part related to hypothalamic obesity, which is mainly caused by hypothalamic damage. The hypothalamic damage seems to result in autonomic nervous system dysfunction as well as leptin and insulin resistance. These factors negatively affect food intake, food satisfaction, metabolism and energy expenditur...

Introduction: Primary hyperparathyroidism is the commonest manifestation of multiple endocrine neoplasia type 1 (MEN1) syndrome, which is caused by germline mutations on MEN1. Loss of functional menin leads to tumour development through unregulated cell division. The MEN1 c.941G>C, p.(Arg314Pro) variant has previously been thought to co-segregate in one family with MEN1 with tumours of parathyroid glands and endocrine pancreas.Clinical Case: A 37-yea...

Background: Diabetes insipidus (DI) is characterized by polyuria and consequently thirst and polydipsia. Excessive water intake can also cause polyuria, i.e. primary polydipsia. It is of utmost importance to differentiate between the two disorders since the treatment is different.Aims: To study the clinical value of the standard 8-hour as well as an extended water deprivation test in patients with polyuria and polydipsia.P...

Introduction: Antidepressants especially SSRI are widely used in all ages. Increase in serotonin level is not supposed to give side effects in other hormonal systems. Here we present a case with serotonergic like symptoms, elevated aldosterone levels and hypertension due to sertraline treatment.Clinical Case: A 37-year-old woman with previous PCÓs was admitted due to hypertension and high aldosterone. She had undergone two pregnancies after letrozol...

Background: Clinical features of acromegaly develop insidiously and the diagnosis is often delayed. However, diagnostic delay (DD) in acromegaly has not been systematically investigated. Our primary aim was to investigate DD in a nationwide cohort of patients with acromegaly. Secondary aim was to study the impact of DD on morbidity and mortality.Methods: Adult patients diagnosed with acromegaly between 2001 and 2013 were identified in the Swedish Nationa...

The transition to the postmenopausal stage is associated with an increased risk for vascular diseases, including myocardial infarction and stroke. This has been linked to a decrease in estrogen production. Estrogens mediate their effects on the brain to a major extent through binding to nuclear receptors, estrogen receptor alpha and beta. It is possible that positive and adverse effects of estrogens are related to interactions between receptor genotypes and hormones. Notably, ...

11HSD1 regenerates cortisol from cortisone and maintains glucocorticoid receptor (GR) activation. Adipose-specific transgenic 11HSD1 overexpression in mice causes obesity, insulin resistance, and hypertension (reflecting increased adipose angiotensinogen); however, the effect depended upon local GR expression. In human obesity, 11HSD1 activity is increased similarly in biopsied adipose, but the impact remains uncertain. We tested whether increased adipose 11HSD1 activity in ob...

Background: Women with polycystic ovary syndrome (PCOS) have lower health related quality of life (HRQL) and more symptoms of anxiety and depression than women without PCOS, where a higher BMI is positively correlated to both lower HRQL and more symptoms of anxiety and depression. Studies on women with PCOS and severe obesity regarding symptoms of anxiety and depression are lacking.Aims: To examine if women with severe obesity and PCOS have lower HRQL an...

Objective: Patients who receive ≥5 mg prednisolone per day, for more than 2–3 weeks, are at risk of developing glucocorticoid (GC) induced adrenal insufficiency (tertiary adrenal insufficiency, 3° AI). The aim of this study was to a) determine the prevalence of GC use in doses that are associated with development of 3° AI, b) assess prescription pattern of short and long-term GC treatment in adults and children, and c) investigate the indication for the GC...