Endocrine Abstracts

Introduction: Arthrogryposis multiplex congenita is a rare congenital disorder characterised by multiple joint contractures. The association with hypopituitarism has only been reported once before. We report two further children with multiple pituitary hormone deficiencies (MPHD) and arthrogryposis.Case reports: Case 1: this 12-year-old girl was born to consanguineous parents; a previously affected sibling had died. She was dysmorphic with multiple joint...

A 33-year-old lady reported a 6 months history of sweating and worsening palpitations especially after taking sotalol. She had a history of congenital heart disease (double inlet left ventricle, pulmonary valvular stenosis, ventricular septal defect, and Fontan connection surgery at 18 years); Blue Bleb Syndrome with chronic gastrointestinal blood loss, and recurrent pulmonary emboli. She required long-term warfarin treatment and regular blood transfusions. She was found to ha...

A 83-year-old gentleman admitted with nausea and feeling generally unwell. Past medical history of hypertension, duodenal ulcer, previous gastric surgery, polymylagia rheumatica and type two diabetes mellitus. Chest XR showed right basal pneumonia which was treated with antibiotics. Patient admitted to significant weight loss therefore he had thoracic-abdominal CT scan performed which showed 4 cm by 4 cm solid cystic lesion in the left adrenal gland possibly malignant. Subsequ...

Cushing’s syndrome (CS) associated with dilated cardiomyopathy without LVH is rare but important to recognise as treatment of CS can lead to total recovery of heart function.A 30-year-old previously fit and well Turkish man presented with chest pain and was diagnosed with NSTEMI and CCF. An MRI of the heart and CT coronary angiogram showed normal coronary arteries but a large right adrenal tumour of 11.5 cm with extension into IVC. The transthoracic...

Background: Although primary aldosteronism (PA) is the common cause of hypertension subjected to surgery, methods of pathological confirmation of aldosterone overproduction have not been established. Aim of the study was to investigate immunohistochemically the expression of CYP11B2 in the adrenal tissue of PA.Methods: Twenty five patients with PA including 20 patients with aldosterone-producing adenoma (APA) and 5 patients without APA (non-APA) were stu...

Primary hyperaldosteronism is a common cause of secondary hypertension. Distinguishing between the two subtypes (unilateral aldosterone-producing adenoma and bilateral idiopathic hyperaldosteronism) is crucial for patient’s management. Adrenal venous sampling is an important method for evaluation of the condition, but selective successful right adrenal venous sampling is often reported to be a difficult procedure. A retrospective review of 51 cases suffering from primary ...

Background: α-Klotho was first identified as an aging gene and was later shown to be a regulator of phosphate metabolism. Fibroblast growth factor 23 (FGF23) is the key regulator of phosphate metabolism. Serum levels of soluble α-Klotho in chronic kidney disease (CKD) patients have not previously been determined, especially in relation with FGF23 and creatinine levels. This study was designed to investigate whether serum soluble α-Klotho levels are modulated by ...

Parathyroid hormone (PTH) secretion maintains extracellular calcium (Ca2+o) homeostasis under the control of the calcium-sensing receptor (CaR). Supra-physiological pHo changes (±1 pH unit) significantly alter CaR activity in a heterologous expression system. Interestingly, metabolic acidosis and hyperparathyroidism are concomitant in both ageing and chronic kidney disease. Therefore, here we examined whether smaller, pathophysiological pH...

The more sophisticated laboratory methods are used, the more likely a disease is found at its asymptomatic stage. In particular, diagnosis of primary hyperparathyroidism (PHPT) is currently based not only on the presence of clinical symptoms but on the typical upswing of the serum parathyroid hormone level. Outlooks of patients with PHPT and normal serum calcium level have not been quite clear so far. We tried to contribute to this question in a prospective study that has been...

Histiocytosis is a group of syndromes /synonyms: eosinophilicgranulomatosis, pulmonary Langerhans cell histiocytosis, fibrous lung disease, disease of smokers, non-lipid reticuloendotheliosis; disease of Hand–Schuller–Christian; disease of Letterer–Siwe/. It is a rare disease and its real frequency is unknown. In a reference center in the U.S. the disease is found in 5% in patients with lung biopsy carried out in connection with the diagnosis of interstitial lun...