Endocrine Abstracts

Adamantinomatous craniopharyngiomas (ACPs) are among the most common intracranial tumours in children and they originate from undifferentiated pituitary progenitors. Mutations in the gene encoding for β-catenin (CTNNB1), which lead to the constitutive activation of the Wnt/β-catenin signalling pathway, have been associated with ACP. These tumours can invade adjacent structures, such as the hypothalamus, which makes comp...

Somatic activating mutations in BRAF, encoding B-Raf, have been described in tumours and recently craniopharyngiomas. Germline mutations in BRAF and other components of the RAS/MAPK pathway are found in RASopathies, whose features include endocrine deficiencies but not craniopharyngiomas. We report three BRAF mutations (two of which are novel) in four children with congenital hypopituitarism. To demonstrate the functional role of the three variants w...

Adamantinomatous craniopharyngiomas (ACPs) are among the most common intracranial tumours in children and they originate from undifferentiated pituitary progenitors. Mutations in the gene encoding for β-catenin (CTNNB1), which lead to the constitutive activation of the Wnt/β-catenin signalling pathway, have been associated with ACP. These tumours can invade adjacent structures, such as the hypothalamus, which makes comp...

Women with polycystic ovary syndrome (PCOS) suffer from reduced fertility linked to implantation failure and miscarriage, as well as endometrial cancer, all associated with endometrial dysfunction. We hypothesize that cell-type-specific endometrial dysfunction in insulin-resistant and hyperandrogenic women with PCOS contributes to their endometrial dysfunction and that treatment aimed at improving insulin sensitivity and decreasing androgen excess has the potential to reverse ...

Cushing’s disease (CD), caused by an adrenocorticotropic hormone (ACTH)-secreting pituitary tumor, is the most common form of hypercortisolism. Pituitary surgery is the first-line treatment of CD and medical treatment is an alternative second-line approach to control cortisol excess. Long-term exposure to glucocorticoids (GC) downregulates the expression of somatostatin receptor type 2 (SSTR2) but not type 5 (SSTR5) in human and mouse ACTH-secreting tumor cell cultures; t...

Rationale: Type 2 diabetes mellitus (DM) is common in patients with Cushing’s disease (CD) and Acromegaly (AC), and contributes to increased mortality. This study aimed at investigating the prevalence and characteristics of DM in CD and AC patients at diagnosis and after disease control (DC).Patients and Methods: 34 CD patients (8M,26F, 24 microadenomas(mA),6 macroadenomas (MMA) and 4 empty sella) and 35 AC patients (16M,19F, 7 mA,28 MMA) were inclu...

Introduction: Primary hyperaldosteronism (PH) is characterized by autonomous adrenal aldosterone (A) hypersecretion. Unilateral adrenalectomy is the treatment of choice, when adrenal vein sampling (AVS) indicates lateralization of A secretion. To assure that each adrenal vein (AV) has been correctly sampled, cortisol levels in each adrenal vein must be higher than in the inferior vena cava. The adrenal gland cortisol/vena cava cortisol ratio is referred to as the selectivity i...

Introduction: Bariatric surgery (BS) has emerged as the most effective treatment for severe obesity, but weight regain after surgery is an important issue. The aim of this study was to evaluate the impact of different surgical techniques on long-term dynamic weight loss pattern.Materials and methods: We retrospectively included 444 patients with BMI > 35 kg/m2 who underwent different BS techniques: Sleeve gastrectomy (SG; n: 80), ...

Objective: Male hypogonadism is common in the elderly and has been associated with increased risk of mortality. Our objective has been to assess the prevalence of primary and central hypogonadism in elderly male patients admitted to the hospital because of acute illness. We also evaluated the relationships between gonadal dysfunction and in-hospital mortality.Patients and methods: 150 male patients, aged ≥65 years, admitted during 2010 and 2011 in ...

Measurement of electrical impedance has been proposed as a way to determine whether a hyponatremic patient is hypovolemic or euvolemic. We compare the usefulness of the physical examination (PE) with bioimpedance for determination of volemia in an outpatient hyponatremia clinic.Method: Descriptive prospective analysis. 11 patients attended at the hyponatremia clinic of a tertiary hospital were evaluated. Impedance was measured by a SECA, indicating the p...