Endocrine Abstracts

Familial hypocalciuric hypercalcaemia (FHH) is a characteristically asymptomatic condition that is caused principally by calcium sensing receptor gene (CASR) mutations and less frequently by GNA11 or AP2S1 mutations. We report a case of recurrent symptomatic pancreatitis in an FHH patient. The 17-year-old patient was hospitalized with abdominal pain and raised pancreatic enzymes due to acute pancreatitis. The only predisposing factor on investigation was a very elevated serum ...

Introduction: Auto-immune polyglandular syndrome type 2 (APS-II) is an autoimmune condition which combines Addison’s disease (primary adrenal insufficiency) with another autoimmune pathology like thyroiditis, diabete mellitus, primary hypogonadism, vitiligo, Biermer anemia, etc. Patients can develop those pathologies concurrently or many years after the first manifestation. Prevalence of APS-II is 1 or 2 cases/100.000/year and the sex ratio is 3 women for 1 man. Genetic t...

Purpose: The purpose is to draw attention to rare cases of Pituitary Macroadenoma co-secreting Growth Hormone and Thyroid Stimulating Hormone with Polynodular Goiter and their importance and approach in current practice.Background: Pituitary adenomas with no hormonal clinical picture are known as ‘silent’ tumors. They are rarely reported and lacking pathogenic explanations.Method: We describe a case of Pituitary Macroaden...

Introduction: Thyrotropin-secreting pituitary adenomas are rare tumors accounting for 1–2% of all pituitary adenomas and the diagnosis is based on the combination of high fT4 levels with normal to high TSH concentration in the presence of a pituitary adenoma. About one third co-secrete other hormones, of which, most frequently growth hormone (16%) followed by prolactin and gonadotropins.Case report: A 60 years-old male patient presented in 2016 afte...

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...

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...