Endocrine Abstracts

Priming with sex steroids prior to stimulation tests for the diagnosis of GH deficiency (GHD) in peripubertal years remains controversial, though some evidence suggests its utility in improving the specificity of GH testing for the distinction between idiopathic GHD (IGHD) and constitutional delay of growth and puberty (CDGP). However, few data are available on the final height (FH) of untreated CDGP patients. In order to better understand the usefulness of priming, we analyze...

Loss-of-function mutations in the TSH receptor (TSHR) gene are one of the most common known causes of congenital hypothyroidism (CH). While heterozygous mutations result in nonautoimmune isolated hyperthyrotropinemia, homozygous and compound heterozygous mutations may cause overt CH of various severity depending on the localization and type of the mutations.In our study we performed the systematic genetic analysis of the TSHR gene of a cohort of 85 Hunga...

Congenital hypothyroidism is frequently associated with congenital cardiac malformations (CCM). Studies in knock-out mice showed that heart and great vessels organogenesis share some nuclear transcription factors with the embryonic thyroid, suggesting that thyroid defects may have a higher prevalence in children with CCM. The present study investigated thyroid function and morphology in 280 children (145 M/135 F, aged 0.3–12 years), affected by CCM (septal defects, ductus...

BMP15 is an oocyte-derived growth factor belonging to TGF-β superfamily involved in follicular development as a critical regulator of granulosa cell processes. BMP15 gene maps at Xp11.2 and is expressed throughout folliculogenesis. BMP15 is translated as a pre-proprotein consisting of signal peptide, pro-region and mature peptide. The pro-region has an important role in the processing driving the pro-protein dimerization and secretion of active mature dimers. We report th...

Tools that are highly effective in the treatment of differentiated thyroid cancer (DTC) loose their therapeutic potentials in poorly differentiated tumors. The synthetic analog 8-Cl-cAMP has been known to have an antiproliferative effect in a variety of cancer cells and is tested as antineoplastic agent in clinical trials. The signaling mechanisms that govern the 8-Cl-cAMP-induced growth inhibition are still uncertain and data in thyroid neoplasia are lacking. Therefore, we te...

Primary hyperparathyroidism (PHPT) may occur sporadically or within MEN syndromes. It is classically thought that PHPT in MEN occurs at earlier ages than sporadic PHPT without significant differences in clinical and biochemical presentation. The aim of the study was to compare clinical and biochemical parameters between sporadic PHPT and MEN1 patients. The study included 41 genetically diagnosed MEN1 patients (14M, 27F) and 88 sporadic PHPT patients (24M, 64F) matched for age ...

Introduction: Isolated hypogonadotropic hypogonadism (IHH) often occurs in the pre-pubertal period but it can also manifest in post-puberal age. Recent position statements and guidelines differentiate between a ‘true’ hypogonadotropic hypogonadism, intended as congenital or acquired organic defect (characterized by frankly pathological total Testoterone values, TTe <3.5 nmol/l), and a ‘false’ or functional hypogonadism, associated to older age and comor...

Binge-eating disorder (BED) is characterized by recurrent (≥1 per week for 3 months), brief (≤2 h), psychologically distressing binge-eating episodes during which patients sense a lack of control and consume larger amounts of food than most people would under similar circumstances. The prevalence of BED is estimated to be between 2% and 3.5% and majority of individuals with BED are either overweight or obese. Most of the genetic research about eating disorders (ED)...

Medullary thyroid carcinoma (MTC) is a rare neuroendocrine tumor arising from parafollicular C-cells. Nowadays different targeted therapies are available, directed mostly against the main genetic driver of MTC, RET, and against the common pro-oncogenic pathways of VEGF, EGFR and c-MYC. Despite this, an escape phenomenon has been observed with sudden disease progression during treatment, leaving surgery as the only curative treatment. The evaluation of pre and post treatment ge...

Objectives: Differentiated TCs are generally sensitive to first line treatments and tyrosine kinase inhibitors (TKIs). However, part of them along with undifferentiated TC, namely Anaplastic (ATC) and Poorly Differentiated (PDTC), are aggressive and show refractoriness to tyrosine-kinase inhibitors (TKIs) treatments. A correlation between resistance to TKIs and inactivating TP53 mutations was proven in TC by our group, consistent with data obtained in other tumors. To...