Endocrine Abstracts

Background: Primary adrenal insufficiency (PAI) can be of autoimmune origin (Addison’s disease, AD) or due to inborn disorders of steroidogenesis (congenital adrenal hyperplasia, CAH). Prognosis of patients with PAI has improved considerably after glucocorticoid replacement therapy became available. However, even in recent years, an increased risk of death has been described in both AD and CAH patients. Moreover, even with the current state-of-the-art replacement therapy,...

Background: Management of patients with CAH remains challenging. There is increasing evidence to suggest that failure to optimize treatment during childhood not only affects final height but also leads to psychological and psychiatric problems. Previous qualitative structural T2-weighted MRI studies have identified white matter hyper-intensities in up to 46% of CAH patients. The nature and functional relevance of these abnormalities remains unknown.Objec...

Background: The urinary steroid metabolome is considered the fingerprint of adrenal gland function. Novel methods using mass spectrometry profiling have seen the advent of a new era for metabolomics with powerful implications for both diagnostics and discovery. Its interpretation is difficult and performed by few specialists with the expertise to do so. This makes it a relatively inaccessible tool for the majority of Clinical Endocrinologists.Objective: ...

Background: Mutations of 21-hydroxylase (CYP21A2) cause congenital adrenal hyperplasia. Its severe (classic) form constitutes a life-threatening disease. Patients suffer a significant disease burden due to co-morbidities that are often treatment-related. The current therapeutic situation is unsatisfying and demands novel treatment approaches. In silico modelling suggests protein misfolding and intracellular retention to play a significant role in the pathogenesis of C...

Context: Idiopathic intracranial hypertension (IIH) is characterised by elevated intracranial pressure and occurs predominantly in obese premenopausal women. Signs and symptoms of polycystic ovary syndrome (PCOS) often coexist in IIH. Here we compared the androgenic and metabolic phenotypes in IIH, PCOS and simple obesity.Patients and Methods: We studied 25 patients with IIH (mean age 34.4±9.2 years; mean BMI 37.8±5.2 kg/m2), in comp...

Background: Adrenal incidentalomas are mostly non-functioning adrenal tumours (NFAT) or adenomas with mild autonomous cortisol excess (MACE), of which the natural history is unclear. We conducted a systematic review and meta-analysis focussing on NFAT and MACE to determine the: (i) proportion and degree of tumour growth, (ii) incident change in hormone function, and (iii) proportion of malignant transformation.Methods: We searched MEDLINE In-Process &#38...

Introduction: Bilateral adrenalectomy (BADx) is a treatment option in ACTH-dependent Cushing’s syndrome refractory to other therapeutic modalities or can be an emergency measure in cases with severe manifestations of hypercortisolaemia.Aim: To review the outcomes of our patients with ACTH-dependent Cushing’s offered BADx.Methods: Records of patients with ACTH-dependent Cushing’s managed by BADx and seen in our Depart...

Insulin resistance and androgen excess are the cardinal features of polycystic ovary syndrome (PCOS). Severity of hyperandrogenism and metabolic dysfunction in PCOS are closely correlated, but underlying mechanisms remain poorly understood. Aldoketoreductase type 1C3 (AKR1C3) is a key source of adipose androgen generation, activating androstenedione to testosterone (T). We postulated that AKR1C3 plays a critical role linking androgen metabolism and metabolic ...

Context: Idiopathic intracranial hypertension (IIH) is characterised by elevated intracranial pressure and occurs predominantly in obese premenopausal women. Signs and symptoms of polycystic ovary syndrome (PCOS) often coexist in IIH. Here we compared the androgenic and metabolic phenotypes in IIH, PCOS and simple obesity.Patients and methods: We studied 25 patients with IIH (mean age 34.4±9.2 years; mean BMI 37.8±5.2 kg/m2), in comp...

Context: Androgen excess, obesity and hyperinsulinaemia are the cardinal features of polycystic ovarian syndrome (PCOS). While several studies have addressed the relationship between androgen excess and hyperinsulinaemia, the link between androgen excess and fat distribution remains largely undefined. Recent work has highlighted the importance of adipose tissue as an organ of androgen activation. Here, we evaluated the relationship between visceral fat and androgen excess in w...