Endocrine Abstracts

The discovery of naturally occurring, inactivating mutations of the aromatase gene and of the estrogen receptor (ER) gene in humans shed new light on the precise role of estrogen in several metabolic processes, both in male and female.To date, few clinical cases of males with well-documented congenital aromatase deficiency (11 females and 8 males) have been reported in medical literature. All mutations accounting for aromatase deficiency have been locate...

Introduction: The endothelium produces molecules regulating vascular function, such as nitric oxide (NO). NO protects blood vessels from endogenous injury and causes vasodilation through activation of second messengers. In diabetes mellitus (DM), hyperglycemia provokes oxidative stress, reduction of NO and increased synthesis of vasoconstrictors (e.g. endothelin). Cyclic nucleotide phosphodiesterases (PDEs) are enzymes, controlling the rate of degradation of second messengers....

Introduction: Hypogonadotropic hypogonadism (HH) is a heterogenous disease caused by mutations in several genes. Based on the presence of hyposmia/anosmia it is distinguished into Kallmann syndrome and isolated HH. The prevalence of other developmental anomalies is not well established.Methods: We studied patients with HH (29 males, 3 females, mean age 41.5), 9 with familial and 23 sporadic HH (29 congenital, 3 adult-onset), by physical examination, smel...

Introduction: Aromatase cytochrome P450 is uniquely responsible for estrogen synthesis in vertebrates. The protein is expressed in the gonads and other extraglandular tissues. Deregulated expression of aromatase has pathological relevance and targeting the CYP19A1 product could be an effective strategy for treatment of affected tissues. Nevertheless, very little is known concerning the role of protein oligomerisation, glycosylation and degradation. Here we studied the aromatas...

Introduction: There is no consensus about the usefulness of repeating the US-FNAB during the follow-up of nodules when a benign (Thy2) or indeterminate (Thy3) report is obtained at first US-FNAB.Aim of the study: To investigate the clinical value of repeating US-FNAB after a previous adequate Thy2 or Thy3 US-FNAB.Methods: We reviewed the US-FNABs performed from 2006 to 2009. All clinical data of the patients were collected and anal...

Introduction: Several studies in literature have shown that some features of thyroid nodules at US are associated with malignancy. However, previous studies were focused mainly on subjects affected by multinodular goiter (about 70%) rather than subjects with thyroid cancer (about 30%). Furthermore, the main limitation of previous studies was the lack of thyroidectomy in all subjects.Aim of the study: To evaluate the diagnostic value of US features in a s...

Introduction: We assessed the incidence of ultrasound (US) thyroid scan anomalies in adult volunteers in the district of ModenaMethods: From December 2010 to October 2011 we performed US thyroid scan (Siemens Acuson Antares, 10 Mega Hertz-Linear scanner- B mode) in a cohort of 201 volunteers, recruited by local advertisement, women (n=135) and men (n=66), mean age 46±10.7. All participants were unaware of any thyroid disease and at the...

Introduction: Male sexual behaviour is deeply influenced by the endocrine system. However, few data are available on low cortisol serum levels and sexuality.Subjects and methods: In order to investigate the sexual function in 12 men before and during replacement treatment for Addison disease (AD), we performed sexual and psychological evaluations before replacement therapy (‘baseline’) and at least 8 weeks after complete recovery from cortisol ...

Introduction: At puberty, the raise of serum estradiol (E2) (after testosterone conversion) is needed to fuse ephiphyses and to complete bone maturation in boys. Owing to severe hypogonadism and very low circulating testosterone, adult men with congenital hypogonadotropic hypogonadism (CHH) may present with unfused epiphyses and continuing linear growth if androgen deficiency is unrecognized and untreated. In order to establish the minimal amount of sex steroids nee...

Introduction: In type-1 neurofibromatosis (NF-1) there is an increased risk of endocrine tumors, especially pheochromocytomas, whereas thyroid carcinomas seem to be extremely rare, with few cases reported in literature.Subjects and methods: In order to investigate the frequency of hypercalcitoninaemia and medullary thyroid cancer (MTC) in patients with NF-1, we evaluated the thyroid gland morphology and function in 17 patients with NF-1 by i) neck US, ii...