Endocrine Abstracts

Introduction: Glucagon stimulation test is one of the recommended growth hormone provocation tests for diagnosing growth hormone deficiency in children. In adult patients, recent data showed that glucagon administration is able to stimulate the release of copeptin, the stable C-terminal glycopeptide of the AVP prohormone whose evaluation during hypertonic saline infusion represents the gold standard for the differential diagnosis of polyuria/polydipsia. However, similar data o...

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: 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...

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...

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...

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...

Patients with craniopharyngioma (CP) are more often operated by transcranial route than patients with nonfunctioning pituitary adenoma (NFPA), have higher prevalence of pituitary deficiencies, are more obese and dyslipidemic and have a higher mortality rate. A previous study in a large group of GHD subjects, showed that the effects of 2-year rhGH replacement are similar in patients operated for CP and in patients operated for NFPA, except for less reduction in fat mass in CP p...

A highly polymorphic microsatellite in the IGF1 gene promoter, composed of variable cytosine-adenine (CA) repeats (n=10–24) has been linked to IGF1 serum concentrations in normal, acromegalic and GHD subjects with conflicting results. Aim of this study was to investigate whether this polymorphism may influence the clinical and biochemical characteristics of adult patients with GHD (n=97). Moreover, the response to 12-month rhGH replacement in terms of IGF1 l...