ESPE Abstracts

Background: Obesity ignites numerous health and psychosocial problems and is associated with various comorbidities. BMI is also independently associated with improved risk for numerous kidney disorders. As renal length is considered a vital parameter in the clinical assessment of renal patients, normal renal length has to be defined in accordance to BMI. The aim of this study is to define normal kidney length in obese children, comparing ultrasound measurements of the kidney l...

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:...

Early puberty is associated with obesity in young girls and has physical, psychosocial, and reproductive implications. In adults and children, MRI evidence of cellular inflammation in the mediobasal hypothalamus (MBH gliosis) is seen in obesity, and its anatomic location overlaps with key neuronal populations controlling reproduction, fertility, and feeding. We sought to assess whether MRI evidence of MBH gliosis associates with pubertal development in girls and if that differ...

Objectives: Achondroplasia (ACH) is a rare, genetic skeletal dysplasia, resulting in impaired endochondral bone growth and leading to multisystem complications. We aimed to estimate rates of non-skeletal complications in ACH patients compared with general population controls.Methods: Retrospective cohort study using UK Clinical-Practice-Research-Datalink (CPRD-GOLD), identifying an ACH cohort. Study index date was define...

Background: Graves’s disease (GD) is the most common cause of hyperthyroidism. Maximal 30% of pediatric GD patients achieve remission with anti-thyroid drugs. The majority of patients therefore require definitive treatment. Both thyroidectomy and radioactive iodine (RAI) are often used as definitive treatment for GD. However, data on efficacy, and short- and long-term side effects of RAI treatment for pediatric GD are relatively scarce.Methods: A ...

Background: Congenital hypogonadotropic hypogonadism (CHH) is a rare disease with a complex clinical picture and genetic background. In up to 50% genetic mutations are found. The goal is to be able to provide a comprehensive prognosis and genetic counseling for this family with CHH.Case presentation: At the age of 16 years a boy with familial constitutional delay (adrenarche only with 15 years, no growth spurt, bone age 14 years) present...