Endocrine Abstracts

Obstructive sleep apnea syndrome (OSAS) is a frequent cardiovascular risk factor in acromegaly. We aimed to retrospectively evaluate sex-related differences in OSAS characteristics and indications of non-invasive ventilation.Patients and Methods: Thirty-nine adult patients (16 F, 23 M) from two European centers were studied by home sleep apnea test (HSAT) or polysomnography (PSG). OSA was defined by an apnea-hypopnea index (AHI) ≥5/h and analyzed a...

Introduction: Neurokinin B (NKB) is a neurotransmitter, regulating GnRH. NKB activates its receptor TACR3. Recessive mutations of TACR3 are associated with a phenotype of normosmic hypogonadism.Case report: A 17 years old man born in Turkey, present with pubertal delay. He is treated 3 years with testosterone and he is reevaluated without treatment. He is 1.79 m and 1.85 arm span, testicular volume: 3 and 4 ml. He has no olfactory troubles. Testosterone ...

Introduction: Breast cancer affects less than 1% of all male cancer patients. In 5–20% of cases, genetic predisposition is involved, mostly due to mutations of the BRCA2 gene. Hormonal imbalance between oestrogens and androgens is another predisposing factor. Male-to-female (MtF) transsexual patients usually undergo long-term cross-sex hormone therapy, which could expose them to higher risks of developing hormonally-dependent cancers.We rep...

Pituitary gigantism is a rare condition caused by growth hormone secreting lesions, where treatment is usually challenging, especially in cases with genetic predisposition. Aim: We studied a gigantism cohort from Venezuela for genetic defects and their response to treatment. Subjects: 160 somatotropinoma patients were evaluated at the University hospital (from 1985–2015); eight (6M) were diagnosed with acrogigantism and underwent genetic analysis including aCGH for Xq26.3...

Introduction: Intracranial germ-cell tumors (GCT) are rare, occurring in less than 4% of pediatric patients. Histologically, they are divided into several types, among which germinomatous GCTs represent over 50% of cases. Depending on their location, GCTs usually present with symptoms of intracranial hypertension for pineal lesions, whereas suprasellar ones lead to visual disturbances or pituitary hormonal defects.We present the case of a bifocal intracr...

PTH promotes conversion of 25-hydroxyvitamin D (25[OH]D) to 1,25-dihydroxyvitamin D (1,25[OH]2D), thus stimulating intestinal calcium and phosphate absorption. Because of low PTH levels in hypoparathyroidism, patients are prescribed calcitriol. Patients are predisposed to hyperphosphatemia owing to loss of PTH-stimulated phosphate excretion by the kidneys. Effects of rhPTH(1–84) on vitamin D metabolism and serum phosphate were studied.In ...

To estimate the point prevalence of active Cushing’s disease (CD) in Belgium, all endocrinologists were invited to perform a retrospective chart review of the CD patients they had been treating between 1-1-2009 and 31-12-2010.Only patients requiring cortisol lowering therapy because of cortisol excess could be included, such as de novo patients (n=53), previously diagnosed patients with persisting/recurrent disease after pituitary surgery a...

Disorders of calcium metabolism arise in a familial or sporadic setting. The resulting hypo- or hypercalcemia can induce serious clinical features. Calcium sensing receptor (CaSR) plays a key role in maintaining this balance and its molecular investigation is useful to determine the nature of a certain condition or to choose the appropriate therapeutic approach.In the present study we reported two clinical cases. A 16-year-old patient had a mild hypercal...

Background: Parathyroid carcinoma (PCa) is a rare disease that can be difficult to differentiate initially from benign parathyroid adenoma. PCa over-secrete the amino form of parathyroid hormone (PTH), which is recognized by 3rd generation but not by 2nd generation (‘intact’) PTH assays. In normal individuals, the 3rd generation/2nd generation PTH ratio should always be <1.Material and methods: We studied the utility of the 3rd generation/2...

Background: Prolactinomas are the most frequent secreting pituitary adenomas encountered in the clinical setting. Cabergoline is considered the mainstay medical treatment and transsphenoidal surgery (TSS) is recommended for patients that are medically resistant to dopamine agonist therapy. Resistance to dopamine agonists is commonly defined as failure to normalize prolactin and less than 50% decrease in tumor diameter at a maximal labeled dose of 2.0 mg/week. Pasireotide LAR (...