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: Among various comorbidities of human immunodeficiency virus-1 (HIV-1) infection, male hypogonadism is very frequent with a prevalence of 19% in patients treated with highly active anti-retroviral therapy. However, literature data are still lacking and achieved by studies with <300 subjects each.Aim of the study: Prevalence and clinical characterization of hypogonadism among a large number of men with HIV-1.Methods...

Objective: Aromatase, the key enzyme involved in estrogen synthesis, is expressed in a variety of cells, including peripheral blood leukocytes (PBLs), and tissues. The systematic study of aromatase expression and activity in different tissues in the human and other primates, however, is difficult and still missing. Although is not really known, aromatase expression in PBLs could be used as parameter of aromatase expression/activity making PBLs a potential alternative for other...

Introduction: Serum Ct is considered the most sensitive tool for MTC screening, but with poor specificity. Pg-test sensitivity and specificity are high, but doubtful for 30–100 pg/ml of Ct peak. FNAB is not routinely used due to its very low sensitivity and specificity. Only few studies from a small number of patients are available on the role of Ct measurement in the wash-out fluid (Ct-FNAB) for MTC diagnosis, providing conflicting results.Aim of t...

Objective: Aromatase, the key enzyme involved in estrogen synthesis, is expressed in a variety of cells and tissues including human peripheral blood leukocytes (PBLs). The present study was designed to evaluate PBL aromatase gene expression in male and female elderly subjects compared to young male controls.Design: CYP19A1 mRNA and protein were measured in PBLs obtained from young men (n=13) aged < 35 years, postmenopausal women (n</...

Introduction: HIV-infected patients often display a moderate to severe GH deficiency (GHD). To investigate the effects of r-hGH on hormonal parameters and body composition in patients with HIV-related lipodystrophy (HIV-r-L) and concomitant GHD, we studied 60 patients with HIV-r-L, 28 male and 32 females aged 18–65 years. According to their response to GHRH+Arginine (GH peak assumed to be normal when >7.5 ng/ml) patients were assigned to the following 3 groups: Group ...

Introduction: In order to study the effect of age and testosterone on sleep related erections, we enrolled 209 men (122: age 30–49 years; 87: age over 50 years), including mild and severe hypogonadal subjects (129) and eugonadal subjects (80).Subjects and methods: The subjects were assigned to four groups, according to their testosterone serum levels. All the subjects underwent nocturnal penile tumescence and rigidity monitoring (NPTRM). The followi...

Background: Endothelial dysfunction leads to cardiovascular complications in type 2 diabetes mellitus (T2DM), through a reduction of nitric oxide (NO)-mediated relaxation. Phosphodiesterase-5 inhibitors (PDE5i) have hemodynamic effects, improving NO levels.Aim: To investigate if long term, chronic treatment with the PDE5i Vardenafil improves systemic endothelial function in men with T2DM.Methods: A longitudinal, prospective, invest...

Background: GH–IGF1 status is important for bone health. Acromegaly affects bone status, but less is known on the role of treatments for acromegaly on bone mineral density (BMD). Pegvisomant (Peg) is effective in treating acromegaly by reducing IGF1. As serum GH is not influenced by Peg, it is not known if residual, direct GH effects on bone (not IGF1 mediated) are preserved during treatment.Methods: To evaluate the effects of Peg on BMD, we compare...

Introduction: At present, only eight men with loss-of-function mutations in the CYP19A1 gene have been described. Here we report the genetic study of four adult men with undetectable serum estrogens, unfused epiphyses, eunuchoid skeletal proportions, continuing linear growth, tall stature, genu valgum, osteoporosis, obesity and achantosis nigricans. Patient 1 (26-years/182 cm) and 2 (28-years/187 cm) are from Turkey with a history of consanguinity. Patient 3 (44-years...