ESPE Abstracts

Background: A reduced GH response to different stimulation tests have been documented in both children and adults with Prader–Willi syndrome (PWS), independently from obesity. Previous reports suggested the hypothesis of an age dependent derangement of the hypothalamus–pituitary axis occurring in PWS subjects.Objective and hypotheses: In this longitudinal study we re-evaluated the GH responsiveness to a combined test after long-term GH therapy ...

Background: The heterozygous mutation in the SRCAP gene (611421) on chromosome 16p11.2 causes a rare genetic disorder named Floating–Harbor syndrome (FHS). The clinical diagnosis of FHS is characterized by a triad of short stature with significantly delayed bone age; expressive language delay, usually in the presence of normal motor development; and a triangular face with prominent nose and deep-set eyes.Objective: To investigate the presence of SRC...

Background: Screening for congenital hypothyroidism (CH) has virtually eradicated the severe mental handicap associated with late or absent treatment. We have previously reported two audits of newborn screening for CH between 1979 and 2003 showing significant improvement from the first to more recent period.Objective and hypotheses: We aimed to audit the period 2004–2013 and report trends in timing of sampling, laboratory processing, delay between f...

Background: Hypoparathyroidism may manifest either as an isolated disorder or as a component of a more complex syndrome. Molecular genetic studies indicate that mutations in PTH, CASR, GCM2 and GNA11 are causes of isolated hypoparathyroidism (IH) and mutations in GATA3, TBCE, FAM111A, AIRE and TBX1 are associated with different complex syndromes with hypoparathyroidism.Objec...

Background: Hypoglycaemia precipitated by factitious insulin administration presents in a very similar way to hypoglycaemia caused by hyperinsulinism. It is difficult to ascertain clinically if the hypoglycaemia is secondary to exogenous administration or endogenous insulin secretion. Diagnosis is based on circumstantial evidence and biochemical tests which include insulin and C-peptide level.Objective and hypotheses: We would like to report a case of a ...

Background: In contrast to hypoglycaemia due to congenital hyperinsulinism, there are patients with a similar metabolic profile of hypoketotic hypoglycaemia, but low insulin levels and relatively low glucose requirements to maintain euglycaemia. So far, four patients with activating mutations in the insulin signal-transducing kinase AKT2 have been described, each also showing a syndromic phenotype including hemihypertrophy.Objective and hypotheses: We pr...

Background: Adult subjects with Prader-Willi Syndrome (PWS) have low Bone Mineral Density (BMD) and are at risk of osteoporosis. Several observations suggest that peak bone mass is usually achieved by late adolescence, in the presence of adequate gonadal hormone concentrations. Consequently, the altered bone characteristics of PWS patients may be related to inadequate sex steroid levels during pubertal development.Aim: To investigate BMD in PWS females d...

Background: Prader Willi syndrome (PWS) results from the loss of paternally imprinted genes on chromosome 15q11–15 and is characterized by neonatal hypotonia, short stature, hypogonadism, aggressive food-seeking behavior, hyperphagia, and obesity with difficult in losing weight only with nutritional approach.Objective and hypotheses: We report our experience on sleeve gastrectomy in PWS and obese subjects during 12 months of follow-...

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 ...

Background: Ovarian reserve is defined as the functional potential of the ovary, which reflects the number and quality of the follicles left in the ovary at any given time. In literature there studies about the evaluation of ovarian reserve after ovariectomy for tumors and cysts, using serum markers, such as inhibin-B, and anti-Mullerian hormone (AMH), combined to ultrasonographic markers, in adult women but none in peri-pubertal girls.Case presentation:...