Endocrine Abstracts

Pituitary adenomas (PAs) are benign neoplasms that comprise 10–20% of all intracranial tumors. Mutations in the aryl hydrocarbon receptor interacting protein (AIP) have been identified to cause a small subset of hereditary PAs. To study the mechanisms of tumor formation in patients with AIP-mutated PAs we conducted a miRNA array analysis comparing AIP-mutated PAs with AIP-wild type PAs. We found a novel and specific set of miRNAs differentially expressed between the two g...

GPR101 is an orphan G-protein coupled receptor with unknown ligand. In 2014, an international study clearly pointed to a strong association between this receptor and the X-linked acrogigantism (X-LAG) syndrome, which begins in childhood and causes the “tallest giants”. The children (carriers of the GPR101 duplication on the X chromosome) grow abnormally even before they are one year old, secrete phenomenal quantities of growth hormone, and develop pituitary adenomas ...

Germline AIP mutations (AIPmut) predispose to young onset somatotroph pituitary adenomas (GHPA) and gigantism. AIPmut GHPA are often aggressive and resistant to pharmacological treatment, which may be especially challenging in the paediatric setting. We report our experience with two young Italian AIPmut male patients with incipient gigantism due to childhood pituitary macroadenomas, who both experienced recurrent ...

Introduction: Polycystic ovary syndrome (PCOS) has a prevalence of 10–15% and is associated with metabolic and mental health consequences. There is evidence that structured education programmes improve illness perception, quality of life and the metabolic profile in other chronic conditions however evidence for structured patient education in PCOS is lacking.We aimed to use an iterative cycle of research to develop a pragmatic educational interventi...

Introduction: Since the 1990’s cabergoline has become the treatment of choice in prolactinomas, allowing rapid and efficient hormonal and tumoral control in most cases. Evidence of cardiac valculopathy was demonstrated in patients treated by dopamine agonists for Parkinson disease, which led to curtailment of their use in this disease. Retrospective studies in hyperprolactinemia patients treated with cabergoline did not show such an effect, probably due to much lower dose...

Familial acromegaly (FA) is a rare disease with less than 150 cases published. For its diagnosis (FA), two or more cases of acromegaly in the same family and the absence of MEN1 and/or Carney syndrome are required. FA is in the familial isolated pituitary adenomas (FIPA) group although its genetic condition is still under investigation.The index case is an asymptomatic 43-year-old woman with a 4mm pituitary micro-adenoma. There were not acromegaly signs/...

Grb14 is a molecular adaptor that inhibits insulin signaling by interacting with the activated insulin receptor and inhibiting its tyrosine kinase activity. In various models of insulin resistance, including obese mice and type 2 diabetes patients, an inverse correlation was reported between Grb14 expression in adipose tissue and insulin sensitivity. To elucidate Grb14 function in this specific tissue, we studied the impact of modifications of Grb14 level of expression on adip...

Aim: To audit the management and treatment outcomes of patients with acromegaly at Royal Devon and Exeter Hospital.Patients and methods: Hospital case records of 43 patients (21 male), presenting between 1982 and 2004 were reviewed retrospectively. Age at presentation ranged from 21 years to 77 years, with average follow-up being 11.2 years.Results: 9 (29 percent) of 31 patients had microadenomas at presentation while 22 (71 percen...

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...

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...