Endocrine Abstracts

Isolated central hypothyroidism (ICH) is a rare disease whose pathogenesis is so far linked to germinal mutations of TSHβ (several cases) or TRH receptor (TRHR) genes (only two cases). Here, we report the studies performed to elucidate the pathogenesis of idiopathic ICH in five cases (two men, three women) with low/normal TSH levels and low freeT4 levels (3–8 pmol/l). One male, negative at neonatal TSH screening, showed signs of severe hypothyroidism at 44...

ICH is a heterogeneous disease mainly due to functional defects of GnRH neurons. Recent studies have described the importance of prokineticin pathway in the pathogenesis of these defects. In a series of 166 ICH patients we found germline mutations affecting this pathway in about 10% of the cases. PROKR2 gene analysis revealed 3 novel (V158I, T260M, V334M) and 4 already known (L173R, R268C, V274D, V331M) mutations affecting different transmembrane and intracellular regions of t...

Congenital hypothyroidism (CH) is frequently associated with congenital heart defects (CHD). Thyroid defects may have a higher prevalence in children with CHD as embryonic thyroid gland share nuclear transcription factors with heart and great vessels during organogenesis. We investigated thyroid function in 325 children (165 M/160 F, aged 0.2–15.4 years), affected by CHD. Patients with Down syndrome, recent administration of iodinated contrast agents, low T3 sy...

Rituximab (RTX) is a monoclonal antibody which binds CD20 antigen and induces B cell depletion. It is not known if its therapeutic effect in autoimmune diseases is mediated by modifications of the humoral immune response, namely the antibody production. Aim of the present study was to evaluate the effect of RTX on serum TSH-receptor antibodies, both binding (TBII) and stimulating (TSAb) and on serum antibodies against three orbital antigens, calsequestrin, XIII collagen and th...

Primary ovarian insufficiency (POI) is a heterogeneous disorder characterized by primary (PA) or secondary (SA) amenorrhea associated with increased levels of gonadotropins. POI affects about 1% of women before the age of 40 years. A major genetic component has been suggested for idiopathic POI due to the frequent familiarity for this defect. Indeed, FMR1 premutations can be found in 10–15% and BMP15 mutations in 2–5% of POI patients. Numerous other candidate genes h...

Idiopathic hypogonadotropic hypogonadism (IHH) is a rare and heterogeneous disease due to defects of GnRH secretion or action. IHH could be associated or not with anosmia respectively identifying the Kallmann’s syndrome (KS) or the normosmic IHH (nIHH). So far numerous causative genetic defects have been described, but very recent molecular genetic studies and animal models have opened novel perspectives. We are studying a series of 16 KS (14M,2F) and 18 nIHH (14M,4F). Al...

Many single nucleotide polymorphisms (SNPs) of the RET gene have been described both in the general population and in patients with sporadic medullary thyroid cancer (sMTC), MEN2 or Hirschsprung disease. Some association studies reported a higher prevalence of these variants in the affected patients, suggesting a possible role in modifying the risk of occurrence of the disease. However, data from different cohorts of sMTC are discrepant and the aim of the present study ...

Premature ovarian failure (POF) is a common cause of female infertility affecting about 1–2% of women under the age of 40. This heterogeneous disorder is characterized by primary or secondary amenorrhea and elevated gonadotropin values. Several defects can cause POF, including autoimmunity, X chromosome abnormalities and gene mutations, but its pathogenesis is still unknown in the vast majority of women with normal karyotype. We recently described two sisters affected wit...

Background: Hypertension (HTN) is the most frequent adverse event during treatment with Lenvatinib (LEN) for advanced Radioactive Iodine-Resistant Thyroid Cancer (RAI-R TC), but data on its best therapeutic management are limited.Objectives: To assess incidence, features and best management of LEN-related HTN in a consecutive single tertiary-care Centre.Methods: Evaluation included 29 patients treated with LEN, followed for a mean ...

Introduction: There is some evidence shows daily consumption of milk/dairy products prevents obesity and many diseases. Even in adulthood, the consumption of adequate milk/dairy products in childhood is protective of obesity. Therefore, balanced consumption of milk/dairy products is thought to prevent obesity or overweight, which is an important health problem nowadays. In our study, we aimed to determine whether there is a relationship between the consumption of milk/dairy pr...