Endocrine Abstracts

GPR54 is a G protein coupled receptor identified in 2001 as the target for kisspeptin, the product of the KiSS-1 gene. Mutations in both kisspeptin and GPR54 lead to inherited failure to enter puberty (idiopathic hypogonadotropic hypogonadism) in the human, and a mutant mouse line with a targeted disruption of the Gpr54 receptor (Gpr54 -/-) has shown the same phenotype.Puberty begins when neurons in the hypothalamus begin pulsatile secretion of Gn...

GnRH is essential on reproductive physiology and behaviour. Early in development, GnRH-1 neurons undergo a migratory process from the olfactory placode (OP) to the hypothalamus. Failure of GnRH-1 migration and abnormal olfactory bulb (OB) characterize Kallmann's syndrome (KS) resulting in hypogonadotrophic hypogonadism and anosmia. The X-linked form of KS is due to a dysfunctional KAL-1 gene, which encodes anosmin-1. An autosomal dominant form of KS results from disrupted K...

(This poster is based on OC11)...

Introduction: Extreme insulin resistance monogenic syndromes, including type A insulin resistance syndrome and congenital lipodystrophies, share some phenotypic characteristics with polycystic ovary syndrome (PCOS). These conditions have an increased risk for developing cardiovascular disease and diabetes mellitus. Thus, both an early diagnosis and a personalized management are required at clinical realm.Objective: To assess the prevalence of mutations i...

Introduction: Epigenetic and genetic alterations contribute to cancer initiation and progression. These alterations may be playing a determinant role in the development of pituitary adenomas (PAs). One of these epigenetic processes is the DNA methylation and, specifically, methylation of Tumour Suppressor Genes (TSG). TSG are key elements that allow the maintenance of cellular homeostasis. Due to epigenetic changes are reversible, a better understanding of the underlying epige...

Background: Familial non medullary thyroid carcinoma (FNMTC) is a not very well known histopatologic entity. Nowadays there are controversial publications about his aggresiveness and prognosisObjective: To know the clinical outcomes and histopathological characteristics of our patients with FNMTC and to compare them with a cohort of patients with sporadic non medullary thyroid carcinoma (CDT).Methods: We conducted a retrospective d...

Background: Although unilateral primary aldosteronism (PA) is the most common surgically correctable cause of hypertension, no standard criteria exist to classify surgical outcomes. The Primary Aldosteronism Surgical Outcome (PASO) study was an international project to develop consensus criteria for outcomes and follow-up of adrenalectomy for unilateral PA.Objetives: To determine the proportions of patients achieving complete, partial, or absent clinical...

Malignant insulinoma is an extremely uncommon tumor (5–10% of insulinomas). It is accompanied by severe hypoglycemia and a short life expectancy (survival at 10 years <10%). Its clinical management is complex and constitutes a real therapeutic challenge. So far, the experience of radionuclide treatment in these tumors is scarce. We report the case of a 51-year-old woman diagnosed with pancreatic neuroendocrine tumor (pNET) in January 2013. Pre-surgical imaging study b...

Introduction: HNF-1β maturity-onset diabetes of the young (MODY5) is uncommon, nevertheless accurate diagnosis guides individualized management and informs prognosis in probands and relatives.Objective: To emphasize the importance of the appropriate use of clinical, biochemical and genetic investigations for the correct classification of diabetes etiology.Case-report: A 35-year-old overweight Latin-American male was diagnosed ...

Introduction: Maternally inherited diabetes and deafness (MIDD), is a rare entity. Most commonly, it is related to a point mutation in the mitochondrial DNA (mtDNA) at position 3243 (m.3243A>G) encoding the gene for tRNA. A high index of suspicion is required for the diagnosis due to a wide heterogeneity in its clinical presentation which reflects different levels of mutated mtDNA among mitochondria in a given tissue (heteroplasmy). Thyroid cancer risk has never been speci...