Endocrine Abstracts

Background: Calcifediol (25(OH)D3), the major circulating form and the direct precursor of the biologically active form of vitamin D, has been identified as an agonist ligand for vitamin D receptor (VDR) with anti-proliferative effects and gene regulatory function despite having a lower receptor affinity respect than the biologically active form of vitamin D3. In fact, recent studies have suggested that 25(OH)D3 can regulate gene expression by ...

Background: Multiple endocrine neoplasia of type 1 (MEN1) is a rare heritable endocrine tumor syndrome that results from biallelic inactivation of the MEN1 gene and the loss of menin protein, that was characterized by a susceptibility to the development of multiple endocrine neoplasms within a single patient. The MEN1 gene screening is helpful in the clinical practice for early genetic diagnosis. Unfortunately, the lack of genotype-phenotype correlation doesn’t allow to f...

Facing a cancer diagnosis at any age is devastating. However, young cancer patients have the added burden that life-preserving cancer treatments, including surgery, chemotherapy, and radiotherapy, may compromise their future fertility. The possibility of reproductive dysfunction as a consequence of cancer treatment has a negative impact on the quality of life of cancer survivors. The field of oncofertility, which merges the clinical specialties of oncology and reproductive end...

Facing a cancer diagnosis at any age is devastating. However, young cancer patients have the added burden that life-preserving cancer treatments, including surgery, chemotherapy, and radiotherapy, may compromise their future fertility. The possibility of reproductive dysfunction as a consequence of cancer treatment has a negative impact on the quality of life of cancer survivors. The field of oncofertility, which merges the clinical specialties of oncology and reproductive end...

Introduction: A Patient Held Record (PHR) has been developed for use in adolescent girls with Turner Syndrome (TS) attending a dedicated Turner Transition clinic, RHC Glasgow. The PHR has been devised to encourage knowledge of TS; medcial care and ways to maintain good health and to promote self advocacy.Aim: To assess patient acceptability and user friendliness of a PHR in adolescent girls with TS.Method: A PHR and questionnaire w...

Introduction: Chemokines are small secreted molecules that promote cell survival, proliferation and directional guidance of migrating cells in normal physiology and tumour pathophysiology. We have recently observed high CXCR4 mRNA expression both in normal human adrenals and in adrenocortical carcinomas. Furthermore, a PET tracer for selective molecular imaging of CXCR4-expression has recently been established.Objective: To further investigate CXCR4 prot...

Background: Anti-Müllerian hormone (AMH) is a key regulator of preantral follicle development. In human polycystic ovarian syndrome (PCOS) hyperandrogenism drives antral follicle excess, and is associated with elevated AMH levels. It is currently unknown if androgens regulate AMH secretion.Objective and hypothesis: To provide insights into the regulation of AMH action, we hypothesized that dihydrotestosterone (DHT), the most potent androgen, stimula...

The clinical picture of hypothyroidism is well described. It is well known that thyroid hormones are very important to development and maturation of the central nervous system. They have influence on the synthesis of proteins and production of enzymes and myelin.Myelin synthesis is an important factor in determining the speed of impulse transmission along complex polysynaptic pathways, such as those mediating the evoked potentials....

Introdution: Pituitary apoplexy (PA) is a rare clinical syndrome caused by sudden hemorrhage or infarction of the pituitary gland. PA may be the form of presentation of a pituitary tumor or occur during follow-up of a previously diagnosed macroadenoma. A high suspicion índex is required to establish a timely diagnosis.Case report: A 54-year-old man was referred to Endocrinology department (04/2015) due to a pituitary macroadenoma. He reported sexual...

Gitelman’s Syndrome (GS) is a rare autosomal recessive salt-losing tubulopathy of young adults, characterized by secondary hyperaldosteronism, hypokalemia, hypomagnesemia, hypocalciuria and metabolic alkalosis. It is caused by mutations in SLC12A3 gene. Hypercalcemia due to hypocalciuria in these patients is extremely rare and requires further evaluation.A 25-year-old normotensive female was referred to Endocrinology clinic for evaluation o...