Endocrine Abstracts

Objectives: To determine the prevalence of several polymorphisms associated with increased cardiovascular risk in a group of adolescents with T1DM. To study the possible association of some polymorphisms with the occurrence of microvascular complications.Methods: Patients were randomly selected from our outpatient clinic. The following polymorphisms were studied:: ACE Ins/Del, Apo B R3500Q, Apo E2, 3, 4, MTHFR C677T and A1298C, PAI 4G/5G, ITGB3 PL(A1)/(A...

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: Several numerical chromosome abberations are known in men. Of those the karyotype XXY (Klinefelter syndrome KS) is the most common chromosomal disorder with a prevalence of about one in 500 live-born males. KS is associated with hypogonadism and is suspected to cause variable physical and cognitive abnormalities. As a supernumerary X chromosome is also associated with infertility, sound animal models for KS are difficult to obtain.Methods: ...

Goal: The aim of this study was to find different characteristics between GDM women aged under (GDM A n=23) and above 28 years (GDM B n=107), followed in our department in 2005.Material and methods: We performed ANOVA comparisons and computed Pearson correlations/linear regressions between womens’ age and BMI, O’ Sullivan test, OGTT 0 h, 1 h, 2 h and 3 h, new born weight and the need of insulin.Results: BMI ...

Sertoli cell-only syndrome (SCOS) is characterized by a lack of germ cells and thickened seminiferous tubule walls and is a frequent finding among men with non-obstructive azoospermia. Spermatogenesis is dependent upon the function and number of Sertoli cells (SC) to support the developing germ cells. Klinefelter syndrome is the most frequent genetic cause of SCOS and presents histological features in common with idiopathic SCOS. Aim of this study was to analyze the relationsh...

Resistance to thyroid hormones (RHT) is a rare syndrome, with autosomic dominant transmission, due to mutations in thyroid hormones beta-receptor gene. Clinical presentation is variable for the same mutation. This hypothesis must be considered in presence of high levels of thyroid hormones and TSH not suppressed.The evaluation of a 15-year-old female patient, in 1990, harbouring a thyroid nodule, secondary amenorrhea and visual and auditory impairment sh...

Objective: Anti-Müllerian hormone (AMH) has recently been evaluated as a marker for follicle reserve and as a new marker for ovarian function in women. In the male, it is produced in Sertoli cells (SC) in the testis. We evaluated serum levels of AMH as a marker of SC function and male fertility by comparing normo- and oligozoospermic men.Materials and methods: Serum levels of AMH were determined by enzyme immunoassay in two groups of men with normal...

Introduction: Kallmann Syndrome (KS) consists of hypogonadotropic hypogonadism and anosmia, and is 5 fold more prevalent in males. There is a considerable clinical and genetic heterogeneity and a crescent interest in autosomal genes. The FGFR1 gene, located on the short arm of chromossome 8, encodes a glycoprotein fibroblast growth factor receptor and FGFR1 mutations has been identified in 10% of KS patients. The clinical picture include typical KS and associated features....

Cushing’s syndrome is a rare disorder in children and adolescents. The diagnosis can be a challenge for the clinician, as its principal feature – obesity – is extremely common. We present three cases diagnosed in the last 20 years. The first one was a boy aged 17 that presented in 1984 with central obesity, acne, moon face with plethora, abdominal striae, easy bruising and skin atrophy. The investigations performed consisted in cortisol and ACTH plasma measureme...

Background: During spermatogenesis protamines replace histones in sperm head. Haploinsufficiency of the protamine (PRM) 1 or PRM2 gene causes infertility in mice. A mutation in PRM1 was associated with increased abnormal sperm morphology in infertile men1. We assessed the frequency of mutations and SNPs in the PRM1 and PRM2 gene in infertile patiens with normal sperm concentration and reduced morphology, a phenotype similar to that...