Endocrine Abstracts

Introduction: Short stature is a common cause of consultation in pediatric endocrinology. In 80% of cases, the etiology remains unknown1 and classified as « idiopathic short stature. We report the case of a child with a heterozygote complete deletion of the IGF1 gene.Case report: A 21 months old boy was referred in pediatric endocrinology because of his extreme short stature. The parents of Sicilian origin are not consanguineous. The fath...

Introduction: Cushing’s disease (CD) is a severe disease, associated with an increased rate of comorbidities and mortality. Remission rate after surgery of pituitary tumor, is around 78%. Relapse occurs in 13% of patients within 10-years after surgery. According to guidelines, patients with unfeasible or non-curative surgery, require additional treatment, including medical therapies. Metyrapone, inhibits 11ß-hydroxylase enzyme, blocking the final step of cortisol syn...

Introduction: Parathyroid carcinoma (PCa) is a rare presentation of primary hyperparathyroidism (PHPT), accounting for less than 1% of cases. Differentiating parathyroid cancer from benign hyperparathyroidism is clinically challenging. Some previous work suggest that there is a paraneoplastic hCG production in parathyroid cancer (Stock et al 1987, Rubin et al 2008). In this study, we aimed to investigate whether the hCG+β kit from Roche Diagnostics could distinguish PCa p...

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...