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...

Introduction: Children born small for gestational age (SGA) represent a heterogeneous population, displaying different phenotypes for both growth and metabolic status. Low birth length and/or weight increases the risks for not only growth impairment but also for metabolic derangements, the latter with an even amplified risk in children with rapid postnatal weight gain. Variability in metabolic parameters, catch-up growth as well as different GH treatment responses are still po...

Introduction: Transition from childhood to adulthood represents a time-period in which adolescents/young adults (AYAs) with chronic illnesses start coping with self-managing their disease, often resulting in poor compliance to follow-up. Indeed, up to 50% of AYAs with common endocrine disorders is lost during the referral to an adult clinic. Transition in Endocrinology is poorly investigated yet, in terms of transition readiness, compliance to therapy, adherence to nutritional...

Background: Pubertal induction in girls with hypogonadism through estrogen replacement therapy (ERT) aims at mimicking physiological puberty. To date, the best induction regimen is still to be established.Aims: By setting up a multicentre clinical registry, we analysed longitudinal data on pubertal induction in girls with hypogonadotropic hypogonadism or premature ovarian insufficiency (congenital, acquired, isolated or associated with multiple pituitary...

Introduction: Adults with growth hormone deficiency (AGHD) have increased prevalence of hepatic steatosis (HS) that might be improved by growth hormone replacement therapy (rhGH). However, data on this topic are conflincting and scanty. Aim: to evaluate prevalence of HS, organ-specific distribution of adipose tissue and cardiovascular impairment in AGHD.Methods: cross-sectional collection of clinical, biochemical and instrumental data (abdominal ultrasou...