Endocrine Abstracts

Spontaneous puberty occurs in a subset of Turner syndrome (TS) patients with significant 45,X/46,XX mosaicism. This observation leads to the belief that haploinsufficiency of still unidentified genes on the X chromosome is the cause of the accelerated follicle atresia in TS. Examination of particular X chromosome rearrangements/deletions led to the identification of 2 Xq and 1 Xp loci associated to the ovarian defect in TS. The availability of new generation genetic and cytoge...

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 ...

In thyroid cells TSH/cAMP stimulation is associated with proliferation and differentiation. The principal effector of cAMP is the protein kinase A (PKA) and events downstream PKA activation, signaling specificity and expression of PKA isoforms are largely unexplored. PKA is composed of two regulatory and two catalytic subunits. Two major isoforms of PKA (I and II) are determined by their specific regulatory subunits (RIα, RIβ, RIIα and RIIβ). A recent gene ...

The TSH B/I ratio is normally reduced overnight and is substantially reduced in patients with overt central hypothyroidism due to h-p axis tumours before and after treatment. It is unknown if similar changes in the TSH B/I ratio in the absence of overt central hypothyroidism contribute to the increased TSH levels seen in cancer survivors who undergo h-p axis irradiation. Thus, we selected 9 patients with the highest TSH levels out of a previously reported cohort of 37 euthyroi...

Thyroid stimulating hormone (TSH) is the key modulator of thyroid cell function. Binding of TSH to its receptor (TSHR) results in an increase of cAMP intracellular concentration, which activates protein kinase A (PKA) to phosphorylate CREB and other substrates. Eventually, this leads to gene transcription modification associated with both proliferation and differentiation. Two major types of PKA (PKA I and II) exist in mammal cells, but their specific role in TSH signaling is ...

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)...