Endocrine Abstracts

Background: Many questions concerning Turner Syndrome (TS) remain unresolved, such as the long-term complications and, therefore, the optimal care setting for adults. Most controversials regard tumors. Very few data are available on thyroid carcinoma and no specific screening protocol of monitoring is advised in the current official guidelines. This long-term cohort study was primarily aimed at estimating the incidence and time to comorbid conditions along the life course, inc...

Introduction: Diabetes mellitus (DM) develops early in Turner syndrome (TS) and appears not related to common risk factors. The precise mechanism of its development is still a matter of debate: a defective insulin response seems to be involved, but the role of incretins is still undefined.Objective: To evaluate the implication of incretin release in the early stages of DM development in TS. Materials and Methods: 153 Turner patient...

Background and Objective: Severe metabolic complications generally manifest at an early age in Berardinelli – Seip congenital lipodystrophy (BSCL) and their management is especially challenging, often requiring prompt pharmacological treatment with insulin-sensitizers, lipid lowering drugs, insulin and eventually metreleptin. Nutritional intervention with low lipid personalized diets is considered by experts a fundamental tool in handling the disease when associated with ...

Background: Many questions concerning polycystic ovary syndrome (PCOS) remain unsolved, such as the long term evolution of cardiovascular (CV) risk markers and the risk for CV events.Methods: A total of 119 PCOS patients diagnosed in 2009 by NIH criteria at our Unit were evaluated at baseline for cardiovascular risk markers (hypertension, diabetes mellitus-DM, dyslipidaemia, obesity, carotid intima media thickness-cIMT, and epicardial fat thickness-EFT) ...

Background and aim: Ovarian hyperandrogenism is a known cause of post-menopausal hirsutism and virilisation, more frequently of a benign nature (e.g. ovarian hyperthecosis, Leydig cell hyperplasia). Bilateral salpingo-oophorectomy delivers both definitive diagnostic and therapeutic results. However, after excluding the presence of a suspicious ovarian mass, the use of GnRH analogues (GnRH-a) offers a valuable therapeutic alternative with cases reporting a sustained response in...

Turner syndrome (TS), one of the most frequent chromosomal aberrations in females, is characterized not only by structural abnormalities (somatic and congenital) but also by acquired comorbidities, such as metabolic disorders, cardiovascular alterations, autoimmune diseases, osteoporosis, and malignancies. The prevalence of structural abnormalities that usually complicate TS at diagnosis is well known. However, the prevalence of acquired complications, that may appear at any a...

Heterozygotes carrying CYP21A2 gene mutations are found in 5-10% of the general population in Mediterranean countries. Accumulating data suggest a survival advantage of this population, despite the fact that carriers of two mutations suffer from either classical or non-classical congenital adrenal hyperplasia (NC-CAH), an entity with increased mortality. In an attempt to elaborate on this issue we evaluated females of reproductive age with CYP21A2 heterozygocity (HET). We have...