ESPE Abstracts

Background: Carnitine deficiency (CD) has been reported in children at time of type 1 diabetes (T1D) diagnosis. By impairing free fatty acid ß-oxidation in liver, muscle mass and pancreatic ß cells, CD might impair glucose homeostasis and residual insulin secretion. We postulate that reversed of these FAO defects may help regenerate a healthier ß cell mass and increased the diabetes honeymoon duration.Objective: Evaluate the effects of car...

Background: Oligo-ovulatory androgen excess in women (polycystic ovary syndrome (PCOS) by NIH definition) is a major cause of subfertility and relates to hepatic steatosis, independently of obesity.Objective: To test whether early treatment of PCOS affects subsequent ovulation rate.Method: Adolescent girls with hyperinsulinemic androgen excess – a subgroup of PCOS – (mean age 16 year; BMI 23.7 kg/m2) randomly r...

Background: Patients with chromosome 2 pericentromeric duplication are rarely reported in literature.Objective and hypotheses: To describe a young girl with a congenital malformations syndrome, hypogonadotropic hypogonadism and impaired bone quality associated with a chromosome 2 pericentromeric duplication.Results: The proposita was born at 37th weeks of gestation from a twin pregnancy with a cesarean delivery presenting low birth...

Background: GAIA is a health service of Meyer Children Hospital composed of a multidisciplinary team specialized in the management of children victims of child abuse. Sexual abuse occurs when a child is engaged in sexual activities that cannot comprehend, for which the child is developmentally unprepared and cannot give consent, and/or that violate the law or social taboos of society. The sexual activities may include all forms of oral-genital, genital, or anal contact by or t...

Background: Hematocolpos is a rare condition in young girls that can be caused by imperforated hymen or vaginal agenesis. It is usually diagnosed at early puberty with cyclic abdominal pain and amenorrhoea. Menarche is usually observed two years after the start of puberty; sometimes pre-menarcheal bleeding can occur, ranging from isolated premature menarche to spotting in course of puberty. In case of imperforated hymen or vaginal anomaly, a pre-menarcheal uterine bleeding can...

Background: Turner syndrome (TS) affects about one in 2500 liveborn females. It results from the loss of all or part of X-chromosome and has a variable phenotype. The classical form is characterised by short stature, skeletal abnormalities, lymphedema, renal and cardiac anomalies, webbed neck, peculiar neurocognitive profile and gonadal dysgenesis. While loss of up to 2/3 of the X chromosome short arm is compatible with normal fertility, chromosome deletions involving Xq are o...

Background: Following years of dietary and lifestyle intervention (DLI) as the only therapeutic option, reports of bariatric surgery are emerging in adolescents with morbid obesity. We present herein preliminary results of our 4-yr sleeve gastrectomy study.Objectives and hypotheses: To compare the effects of laparoscopic sleeve gastrectomy (LSG) and intensive DLI in adolescents with morbid obesity (ie BMI >4 DS) and extremely active weight gain (i.e....

Background: Non-alcoholic fatty liver disease (NAFLD) represents a spectrum of clinicopathological conditions frequently discovered in obese patients and characterized by multifactorial pathogenesis. Hypoadiponectinaemia and higher interleukin (IL)-6 levels has been related to NAFLD, even if some contradictory findings have emphasized our incomplete understanding of the role of the cytokines in NAFLD.Objective and hypotheses: To investigate the relations...

Background: An accurate prediction of final height after the first year of growth hormone (GH) treatment may help clinicians to give parents and children more realistic expectations.Objective and hypotheses: To validate two prediction models (with and without max. GH peak) for near final adult height (nFAH) by Ranke et al.Method: Height data of 142 (93 male) idiopathic GH deficient (iGHD) children, treated with GH for at l...

Background: 3-M syndrome is an autosomal recessive primordial growth disorder characterized by severe prenatal and postnatal growth retardation, normal mental development, unusual facial features and skeletal abnormalities. Mutations in the CUL7, OBSL1 and CCDC8 genes are responsible for this syndrome. In literature a modest response to GH treatment in 3M children is reported without a significant improvement in the final height, suggesting a picture...