Endocrine Abstracts

The Multiple Endocrine Neoplasia type 1 (MEN1) gene is located on chromosome 11q13 and patients with mutations develop parathyroid, pancreatic and pituitary tumours. MEN1 mutations also cause familial isolated primary hyperparathyroidism (FIHP) and the same MEN1 mutations, in different families, can cause either FIHP or MEN1. This emphasises the importance of genetic background in altering the expression of a mutation, and suggests the presence of genetic ...

IntroductionMaturity Onset Diabetes of the Young (MODY) type 1 is characterized by mutations in hepatocyte nuclear factor 4a (HNF4a) gene, leading to progressive dysfunction of pancreatic beta-cells with optimal response to sulphonylurea treatment. However, most of these patients are initially misdiagnosed as having type 1 diabetes and inappropriately treated with insulin. Data on adequate transferring from insulin to sulphonylureas following gen...

Introduction: Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder. It can be sporadic or familiar and is divided into anosmic hypogonadotropic hypogonadism (Kallmann syndrome - KS) and congenital normosmic isolated hypogonadotropic hypogonadism (idiopathic hypogonadotropic hypogonadism ‐ IHH). A growing number of genes are involved in its etiology, suggesting the heterogeneity and complexity of this condition.Cases Reports: Six cases...

Introduction: Generously supported by IPSEN)-->PROP1 (Prophet of Pit-1) mutations are the most frequent genetic cause of panhypopituitarism, a condition associated with a deficiency or inadequate production of hormones of the anterior pituitary. The PROP1 gene encodes a transcription factor involved in the ontogeny, differentiation and function of somatotrophs, lactotrophs and thyrotrophs. These mutations are characterized by a remar...

Objective: To investigate a family with the unusual combination of Multiple Endocrine Neoplasia (MEN1) and the McCune-Albright syndrome for mutations of the MEN1 and GNAS1 genes. MEN1 is an autosomal dominant disorder characterised by parathyroid, pancreatic and pituitary tumours whereas the McCune-Albright syndrome is a sporadic disorder characterised by polyostotic fibrous dysplasia, skin pigmentation and hyperfunctioning endocrine tumours.<p class="abstext...

Type 1 diabetes mellitus (T1D) is an autoimmune disease that results from the destruction of insulin producing β cells, in genetic susceptible individuals. Vitamin D (Vit D) is mostly known for its role in bone and calcium metabolism, however it is also involved in the modulation of the immune response. Serum levels of vitamin D partly depend on diet and sunlight exposure. However, genetic factors are also involved. Patients with T1D have been reported to have a higher pr...

Introduction: Hypoparathyroidism is characterized by hypocalcemia and low or inappropriately normal levels of PTH. The most common cause of hypoparathyroidism is iatrogenic due to anterior neck surgery. In recent years it was documented that vitamin D insufficiency is widespread.Aim: To investigate the cause of hypocalcemia in thyroidectomized patients with PTH within the reference range.Methods: Retrospective review of clinical re...

We have studied clinical and pre-clinical models to investigate neuroendocrine tumour (NET) development and efficacy of novel therapy for NETs. We focused on multiple endocrine neoplasia type 1 (MEN1), an autosomal dominantly inherited condition characterised by the combined occurrence of pancreatic islet and anterior pituitary NETs with parathyroid and adrenocortical tumours. MEN1 is due to MEN1 gene mutations that inactivate Menin, a tumour suppressor. Our clinical studies r...

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterised by the combined occurrence of tumours of the parathyroids, pancreas and pituitary. MEN1 is caused by germline inactivating mutations of the MEN1 gene which is located on chromosome 11q13 and encodes a 610 amino acid protein, menin. MEN1 tumours show loss of heterozygosity (LOH) of chromosome 11q13, and lack menin expression, consistent with a tumour suppressor role for MEN1...

Introduction: Just-glomerular tumours (reninomas) are rare causes of secondary hypertension (HT). They typically present with difficult to manage-HT, hypokalemia, hyperreninemia and secondary hyperaldosteronism. They are usually small lesions (<1 cm) and are more common in adolescents or young adults. Despite being rare, they should be considered in the diagnostic approach of secondary HT, as it they are a potentially curable cause.Case report: Femal...