Endocrine Abstracts

Background: Low bone mineral density (BMD) and reduced sexual satisfaction have been reported in complete androgen insensitivity syndrome (CAIS). Nevertheless, conclusive data on the prevalence and on the optimal management of these conditions are still lacking.Aims: To assess bone and sexual health in adult women with CAIS with and without gonadectomy.Methods: Single-centre, prospective study of 27 adult CAIS (age 35.2±8.7 ye...

Background: Precocious puberty (PP) in girls is most frequently an idiopathic gonadotropin-releasing hormone (GnRH)-dependent PP, being thelarche the typical first sign. It is well established that increased dehydroepiandrosterone sulphate (DHEAS) levels are associated with premature adrenarche and may characterize PP too. However, its relationship with signs of hypothalamic-pituitary-gonadal (HPG) axis activation and oestrogen exposure is still to be elucidated.<p class="...

Background: Routine clinical use of arginine-vasopressin (AVP) is limited by its small molecular size and pre-analytical errors. In contrast, copeptin – a peptide of 39 amino acids co-secreted with arginine-vasopressin (AVP) - is a stable protein and its measurement represents a reliable measure of AVP concentration. The aim of this study was to analyze diagnostic role of copeptin in diagnosis of diabetes insipidus (DI) in patients treated for hypothalamic-pituitary disea...

Pseudohypoparathyroidism type 1B (PHP-1B) is a rare, familial or sporadic, imprinting disorder due to the epigenetic dysregulation of the GNAS locus, whose main product is the α subunit of the stimulatory G protein (Gsα). Sporadic PHP-1B cases (spor-PHP-1B) display broad methylation abnormalities at multiple GNAS DMRs, but the underlying molecular mechanism is still unknown.Classically, PHP-1B patients show PTH and TSH resistance, but, in the p...

Background: Radiofrequency Echographic Multi Spectrometry (REMS) is a new ultrasound-based tool for bone mineral density (BMD) measurement, recently approved by FDA for the use in clinical routine to diagnose osteoporosis (OP) and to monitor bone changes. However, data on patients with secondary OP are not available. The aim of our study was to compare REMS and DXA ability in identifying clinical (cFX) and morphometric vertebral fractures (VFx) in patients with primary OP (pOP...

The impairment of the parathyroid hormone (PTH) signaling pathway determines a group of related and highly heterogeneous disorders associated or not with the Albright’s hereditary osteodystrophy (AHO) phenotype, classified as inactivating PTH/PTHrP signaling disorder (iPPSD). iPPSD features are rather difficult to be identified in some casesbecause manifestations are somewhat variable and some AHO characteristics are not specific to a specific disorder. Actually, besides...

Background: Interstitial deletions of the long arm of chromosome 1 are rare and classified as proximal or intermediate, the intermediate spanning bands 1q24–1q32. This region contains several genes, including LHX4, a LIM-homeodomain transcription factor essential in the early steps of pituitary ontogenesis. Indeed, mutations in the LHX4 gene are related to combined pituitary hormone deficiency type 4 (CPHD4, OMIM 602146).Aim: outline the impact of ...

Background: One of the main effects of growth hormone therapy (rhGH) in the adult GH deficient patient (AGHD) is to positively modify body composition, with a reduction in fat mass (BF) and an increase in total lean mass (LM). However, the response to replacement therapy is highly variable and, contrary to what described in children, the potential predictive factors are not yet known.Aim of the study: To assess the impact of basal IGF-I levels on variati...

The actin binding protein filamin A (FLNA) is required for somatostatin receptor 2 (SST2) and dopamine receptor 2 (DRD2) expression, intracellular localization and signaling in GH- and PRL-secreting pituitary tumors, respectively, playing a role in tumor responsiveness to somatostatin analogs and dopaminergic drugs. FLNA functions are tightly regulated by several mechanisms, including FLNA phosphorylation. It has recently been shown that in GH-secreting pituitary tumors FLNA p...

Background: Growth hormone deficiency (GHD) is the most frequent endocrinological disorder inchildren with short stature, but there are significant controversies in the diagnosis due to lack of reliablediagnostic criteria. Moreover, at final height (FH) attainment, many subjects diagnosed withisolated GHD re-test normal. It is not clear whether this represents a form of transient GHD or a false positive diagnosis during childhood.Aim: To evaluate differe...