ESPE Abstracts

Background: Apparent mineralocorticoid excess (AME) is a rare congenital autosomal recessive disorder resulting from mutations in the HSD11B2 gene, which encodes the kidney isozyme of 11-β-hydroxysteroid dehydrogenase type 2, inactivating circulating cortisol to the less-active metabolite cortisone. Less than 100 cases of AME have been reported in the literature so far. Affected individuals have elevated renal concentrations of cortisol, which can cross-react and activate...

Background: GH secretion increases physiologically during puberty and GH levels correlate with pubertal stage. Therefore, puberty is the most likely time for normalization of GH secretion in children with GHD. No studies have so far evaluated in children diagnosed as GH-deficient during childhood potential predictors of response to the reevaluation of GH secretion during puberty.Objective and hypotheses: The aim of our study is to establish and compare t...

Background: Cyclic treatment with bisphosphonates (BP) is now considered a ‘standard care’ for children with osteogenesis imperfecta (OI). Vitamin D is a necessary nutrient for bone health for all children but especially for those with OI. In the literature few studies have considered the relationship between bone mineral density, vitamin D and pubertal stage in children treated with BP for OI.Objective and hypotheses: The purpose of this study...

Background: Combined pituitary hormone deficiency (CPHD) is a condition that causes deficiency of several hormones produced by the pituitary gland. The first signs of this condition include a failure to grow at the expected rate and short stature that usually becomes apparent in early childhood. Other features of CPHD include hypothyroidism, delayed puberty, and deficiency of the hormonal cortisol. Some conditions may exacerbate the growth failure of CPHD. Osteogenesis imperfe...

Background: Ovarian sex differentiation network involves a panoply of interacting factors. Yet, no single sex-determining factor has been identified to be an equivalent of SRY or SOX9 in the testis. Recently, data suggested CBX2 as a pioneer regulator promoting testis development. In addition to its implication in ovary pathway differentiation which remains unclear.Objective and hypotheses: To deepen our understanding of the regulatory network that under...

Background: Severe obesity (SO), defined as BMI ≥95th percentile, has increased worldwide among adolescents. American studies estimated that 1.3–2.8% of 12–19-year-old individuals have a BMI >40 kg/m2 or a BMI >35 kg/m2 with at least one serious co-morbidity. The immediate and long-term risks associated with SO in adolescents include cardiovascular and metabolic diseases, obstructive sleep apnoea, and nonalcoholic fatty liver disea...

Background: Patients who had undergone hematopoietic stem cell transplantation (HSCT) during childhood have been reported to have a higher risk of early metabolic syndrome (MS) and diabetes mellitus (DM) with a consequent increased risk of cardiovascular disease. Previous studies reported a cumulative incidence of abnormal glucose tolerance of 11.6% at 5 years from HSCT and of 69.3% at 10 years and a prevalence of MS of 32% at 4 years from HSCT.Objective...

Objective and hypotheses: To describe the morphological characteristics of patients with Prader-Willi Syndrome (SPW) who have been followed in a Pediatric Endocrinology Outpatient Clinic.Method: We performed a retrospective study on 51 patients evaluating the age of diagnosis, genetic mutation, use of GH (rhGH), age of beginning of follow-up, and z-score of weight, height and BMI. Data on their first and latest visit to our clinic were compared....

Background: Endogenous GH secretion physiologically increases during puberty. In particular, a correlation between GH levels and pubertal stages can be stated. Therefore, it is possible that some patients with childhood-onset GH deficiency (GHD) at puberty normalize their GH secretion. Finally, there are not so far assessed potential predictors of persistent GHD in patients during puberty.Objective and hypotheses: Our study aims evaluating the normalisat...

Background: Menarche is a milestone in human sexual development as it denotes the achievement of fertility. Few studies have evaluated the age at menarche (AAM) in chronic respiratory disease.Objective: The main aim of this study is to investigate AAM and menarcheal determinants in girls affected by Cystic Fibrosis or Asthma, and to compare their AAM with healthy girls’ one.Subjects and method: The study was conducted on 1207 ...