Endocrine Abstracts

Introduction: MEN-1 is a rare autosomal dominant familial cancer syndrome characterized by involvement of parathyroid glands, enteropancreatic endocrine tissues and anterior pituitary gland. This disease is linked to germline mutations in the MEN1 gene (more than 460 described), whose identification allows the familial genetic counselling. Here we describe a novel germinal mutation in exon 10 of the MEN1 gene identified in an Italian family.Case Report: ...

INTRODUCTIONThe plasma concentrations and urinary excretion rates of 18-OH-F and 18-oxo-F are high in Conn's syndrome and glucocorticoid suppressible hyperaldosteronism, reputedly because aldosterone synthase (AS) has abnormal access to cortisol (F). However, both compounds are also excreted in normal subjects. Two enzymes, 11beta-hydroxylase (11OH) and AS, located in the zona fasiculata (ZF) and zona glomerulosa (ZG) respectively, are capable of 18-hydroxylation but only ...

Introduction: Idiopathic central hypogonadism (ICH) is a rare and heterogeneous disease due to defects of GnRH secretion or action. ICH could be associated or not with hypo-anosmia respectively identifying the Kallmann’s syndrome (KS) or the normosmic ICH (nICH). Even though 14 disease genes have been identified, in 70% of patients no genetic cause could be identified, suggesting additional regulatory genes and still unknown mechanisms. Thus, with the aim to identify new ...

Disruption of the normal cell cycle is one of the most frequent alterations in tumour cells, contributing to uncontrolled cell proliferation during tumour development. The CDK inhibitor p27 plays a pivotal role in controlling cell proliferation during development and tumourigenesis, and has been implicated in tumorigenesis in rats. Previous studies have demonstrated changes in p27 protein expression, in human pituitary tumours,especially in corticotroph tumours, where p27 prot...

Introduction: ICH is a rare and heterogeneous condition due to defects of GnRH secretion or action. Recent data indicate that ICH, though characterized by a strong genetic component, is a disease of multifactorial origin. Indeed, digenic defects have been described as a possible pathogenic explanation for ICH.Subjects: We present two familial cases with particular clinical and genetic profiles, out of a cohort of 300 ICH patients.R...

Background: Evaluation of plantar pressure is useful for detecting functional abnormality of foot, especially in diabetic patients. The aim of this study was to evaluate plantar pressure and force in diabetic patients using Tekscan F-Scan in-shoe foot force and gait analysis system.Methods: Plantar pressure and force were measured by selecting an area of interest under the six areas of the foot: hallux, first metatarsal, second metatarsal, 3–5 metat...

Archipelago/hCdc4/Fbw7 is the F-box protein specific for recognising and binding phosphorylated cyclin E and targeting it for ubiquitination. Mutations in Archipelago that prevent it from binding to phoshorylated cyclin E have been described in various human cancers including breast, ovarian and endometrial tumours. Previous studies have suggested that cyclin E is over-expressed in corticotroph tumours and other pituitary adenoma subtypes, and we postulated that this may be se...

Background: We have previously shown that a higher BMI and less favorable body composition are associated with relatively higher FT3 levels (within the euthyroid range) in healthy young men. In this study, we aimed to investigate whether FT3 and the ratio FT3:FT4 are also associated with cardiovascular markers in a healthy euthyroid population of middle-aged men and women.Methods: Thyroid parameters were measur...

In the ovary, 11βHSD enzymes inter-convert cortisol (F) with its inert metabolite, cortisone (E). Porcine follicular fluid from antral follicles and spontaneous ovarian cysts contains hydrophobic compounds that inhibit NADP(H)-dependent cortisol metabolism by 11βHSD1. The aim of this study was to measure intra-follicular F:E ratios in porcine antral follicles and ovarian cysts, and determine whether F:E ratios correlate with the inhibition of 11βHSD1 by porcine ...

Previously asymptomatic 29-year-old Saudi male patient, presented to with a history of dizziness, abdominal pain and diarrhea for three days.His morning 800 h serum cortisol was 6.4 μg/dl (normal: 5–25 μg/dl); plasma ACTH was 7579 pg/ml (normal: <46.00). The diagnosis of acute adrenal crisis was made which confirmed later by a defective rise in the cortisol level with ACTH stimulation test.The patient was admitte...