Endocrine Abstracts

Complete androgen insensitivity syndrome (CAIS) is a rare X-linked disorder caused by androgen receptor gene (AR) mutations that result in complete impairment of genital virilisation. Usually CAIS patients, who have normal production of AMH by Sertoli Cells, do not show Mullerian derivatives, although the persistence of Mullerian duct derivatives up to now have been described in nine cases.Here, we report the case of a fetus aborted at 20 weeks for genit...

Somatostatin exerts inhibitory effects on hormone secretion and cell proliferation by interacting with five different receptors (SST1–SST5) linked to effector systems via G proteins. The receptor structural domains mediating these effects have not been identified. Since SS is the hypothalamic peptide that physiologically inhibits GH secretion, aim of this study was to investigate the molecular determinants mediating the interaction of the human SST5 with G proteins and su...

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 ...

Dopamine agonist cabergoline (CB) is the first-choice treatment in prolactin-secreting adenomas (PRL-omas). It is effective in reducing PRL secretion and tumour size in about 90% of patients by binding dopamine D2 receptor (DRD2). Although no mutations in DRD2 were found, it has been reported that several polymorphisms of this locus associate with alcoholism and schizophrenia, diseases in which dopaminergic system plays an important role. To assess the possible asso...

Cortisol and cortisone are interconverted by type 1 and type 2 11ßhydroxysteroid dehydrogenase (11ßHSD) isoenzymes. The type 1 isoenzyme is a widely expressed reductase that converts cortisone to cortisol regulating glucocorticoid tissue exposure. Its activity is inhibited by GH and IGF-I, being increased in GH deficiency (GHD) and decreased in acromegaly. In our experience rhGH therapy unmasked a central hypoadrenal state in adults with organic GHD, likely by normal...

Long acting somatostatin analogs (SSTa) induce both GH/IGF-I reduction and pituitary tumor volume shrinkage in the majority of acromegalic patients. It is not known if SSTa might also definitively cure the acromegalic disease in at least some patients. Aim of the present study was to evaluate this possibility in acromegalic patients very well responsive to chronic treatment. Thirteen acromegalic patients (4M&9F), 5 newly diagnosed and 8 previously operated but none irradia...

We previously demonstrated that acromegalic patients with normal IGF-I levels after surgery also met the current criteria for cure (i.e. postglucose GH nadir <1 μg/l) after long term monitoring. Since some Authors recently proposed to even lower the present GH nadir cut off value, the aim of this study was to confirm its adequacy to define long lasting disease remission. A group of 24 acromegalic patients (9 M&15 F, age 54.2±9.6 yrs) normal IGF-I levels and p...

Prolactin (PRL) exists in different forms in human serum. The predominant form is little PRL (23 kDa) with smaller amounts of big PRL (50–60 kDa), that may be also associated with big big PRL (bbPRL) or macroprolactin (150–170 kDa). A lower biological activity in vivo of bbPRL was reported. Aim of the study was to evaluate the clinical impact of macroprolactin and the association between macroprolactinaemia and polycystic ovary syndrome (PCOS). A group of 115 ...

Despite the increasing evidence on the relevance of the actin binding protein filamin A (FLNA) in determining an efficient intracellular response to somatostatin analogs (SSA) in pituitary tumors, there is a gap in the knowledge on the mechanisms regulating FLNA itself. FLNA is phosphorylated by PKA on Ser2152 located in a FLNA region crucial for SST2 or partner proteins binding. Although cAMP/PKA pathway plays a crucial role in GH-secreting tumors pathogenesis, the...