Endocrine Abstracts

CPP results from premature reactivation of the hypothalamo–pituitary–gonadal axis and pulsatile GnRH secretion, with a hormonal pattern similar to that of normal puberty. Recent studies have implicated the activation of Kisspeptin and its receptor and the inactivation of MKRN3 genes in CPP. MKRN3 gene defects are currently an identified genetic cause of paternally transmitted familial CPP, but such defects do not underlie maternally transmitted CPP and are rarely inv...

CNC is an autosomal dominant multiple neoplasia syndrome, responsible mainly for cardiac myxomas, pigmented skin lesions and endocrine tumors (acromegaly, thyroid and testicular neoplasms and primary pigmented nodular adrenocortical disease: PPNAD). The PRKAR1A gene was previously found to be mutated in about 41% of CNC kindreds. Most mutations lead to nonsens mediated mRNA decay and preclude expression of the mutant protein. 102 patients (64 with PPNAD and 38 with CNC)...

Background: Iodine deficiency is the most important exogenous factor for the development of goiters and thyroid nodules. In addition, family and twin studies as well as linkage analyses and a genome-wide scan in 18 euthyroid goiter families suggest a genetic predisposition for euthyroid goiters. However, data about the inheritance of goiters are still contradictory. Therefore, we investigated goiter predisposition by a matched case control study.Patients...

Objective: There are contradictory results regarding the possible association of the TSHR polymorphism D727E with TMNG. Furthermore the influence of smoking on the thyroid volume has been reported by several authors. A possible association of smoking with thyroid nodules and particularly TMNG has not been investigated up to date.Methods: In this study, 88 patients with TMNG were included. Diagnosis was verified by ultrasonography, scinthiscan, and measur...

Available glucocorticoid (GC) replacement regimens in adrenal insufficiency (AI) only roughly correspond to physiological steroid profiles. Control of substitution quality is therefore difficult but significant, as even mild chronic over- or under-replacement may be clinically relevant. FKBP5 regulates GC receptor sensitivity by reducing its affinity to cortisol when bound to the receptor complex. FKBP5 methylation has been inversely correlated with cortisol levels both in hea...

Thyroid hormones (TH) are important regulators of human metabolism and development, which modulate expression of target genes via nuclear thyroid hormone receptors (TRs). Different isoforms of these classical TRs including TRβ isoforms TRβ1 and TRβ2 as well as TRα1 were shown to be functional TH-responsive transcription factors and have been extensively studied. In contrast, the cellular function of TRα2, an alternative splice variant of TRα1, is ...

The survival of the semiallogeneic fetus within the mother is thought to be due to mechanisms of immunological tolerance. Regulatory T cells (Treg) are believed to have a crucial role in maintaining pregnancy by creating a transient tolerant microenvironment within the maternal uterus as former studies confirmed. We have evidences that Treg expand in lymph nodes from normal pregnant mice already on day 2 of pregnancy. Abortion-prone mice present diminished numbers of Treg in i...

The physiological state of pregnancy is characterised by the tolerance of the maternal immune system towards the paternal alloantigens expressed by the foetus. Recently, CD4+CD25+ regulatory T cells (Treg) were described to play an essential role for the generation and maintenance of the tolerance state. Several research groups showed that normal pregnancy in humans and mice is associated with an augmentation in the number of Treg in different organs wher...

Objectives: The canonical function of thyroid hormone receptors (TRs) as mediators of thyroid hormone action on target gene expression is well known. However, the physiological function of the thyroid hormone receptor α splice variant TRα2, that does not bind thyroid hormones, remains elusive. Initial studies addressing the function of TRα2 indicated that it might act as a TRα1 antagonist, but the mechanisms underlying the dominant-negative activity of TR&#...

Introduction: Glucocorticoid (GC) replacement regimens in adrenal insufficiency (AI) only roughly correspond to physiological steroid profiles. Moreover, control of substitution quality is difficult and signs of clinically relevant mild chronic over- or under-replacement might be omitted. FKBP5 regulates GC receptor sensitivity by reducing its affinity to cortisol when bound to the receptor complex. FKBP5 methylation has been inversely correlated with cortisol levels both in h...