ESPE Abstracts

Patients: A 2-year old girl was referred due to glucosuria 1874 mg/dl. Fasting blood sugar was 71 mg/dl and HbA1c 4.8%. Examination of her growth charts revealed mild failure to thrive, since 15 months of age, as far as weight gain and height velocity. We used Flash technology (FreeStyle Libre) to identify hypoglycemic episodes. In 9 days, 8% of the time was < 70 mg/dl, with 11 hypoglycemic events: mean duration 94 min, lowest 52 mg/dl.<p class...

Acrodysostosis (ACRDYS) (MIM 101800) is a rare autosomal dominant condition affecting skeletal growth and resulting in primary skeletal dysplasia. Two types of ACRDYS have been described and characterized by distinct references on OMIM database. ACRDYS is similar and often confused with PHP1A, but caused by mutations downstream of the genes involved in PHP1A. Most of the patients have de novo variants. Both types of ACRDYS present with similar skeletal abnormalities (dispropor...

Background: Non Hodgkin lymphoma (NHL) is the fourth most common malignancy in childhood. Chemotherapy constitutes the first line treatment and may cause several endocrine side effects (growth retardation, hypergonadotrophic hypogonadism, bone mass loss and rarely secondary malignancy). In total of 1–2% of children may harbour thyroid nodules. The most common risk factors are: irradiation, female sex, iodine deficiency, puberty and past medical history of thyroid disease....

Introduction: Osteoporosis pseudoglioma syndrome (OPPG) is a rare autosomal recessive disease which is caused by mutations in the low-density lipoprotein receptor-related protein 5 (LRP5) gene and is characterized by severe early – onset osteoporosis and vitreoretinal complications leading to blindness by young adulthood.Case presentation: We present a case of an 8 years old boy, who was initially referred to our d...

Background: A secular trend towards earlier menarche has been observed.Objective and hypotheses: The correlation of age at menarche with the BMI as well as the maternal age at menarche and their BMI.Method: This is a cross-sectional study conducted from October 2012–December 2013. A pre-selected, representative elementary and high school cohort was derived, using stratification and PPS methodology. Parents responded to questio...

Background: Pediatric growth hormone deficiency (pGHD) is associated with growth attenuation/deceleration, short stature, delayed bone maturation, and metabolic defects. Daily recombinant human growth hormone (rhGH) treatment promotes linear growth and increases growth rate; however, it may present a substantial burden for patients and caregivers. This may lead to low adherence, limiting the clinical effect of treatment. This study assesses the health-related ...

Background: The ability to respond to stress constitutes a defensive protective mechanism; both inadequate and excessive responses may be detrimental.Objective and hypotheses: To investigate the effect of increased body weight on the hormonal response to stress in children. Scheduled surgical procedures include two stressful parts, a psychological one (anticipation of operation) and a biological one (surgical stress per se) and were chosen as a study mod...

Background: 46XY DSD with female phenotype is classified as complete gonadal dysgenesis (46XY CGD) if a uterus is present or a disorder of androgen synthesis or action if a uterus is absent. The genetic causes of 46XY CGD are not fully clarified. Less than 15% of the cases were found to carry mutations of the sex determining region Y gene (SRY).Purpose: The description of the rare case of two sisters affected of 46XY CPD and gonadoblastoma with SRY mutat...

Background: Obesity-related insulin resistance is present in obese children and Matsuda index is a method proposed to evaluate insulin resistance, using data obtained from the oral glucose tolerance test (OGTT).Objective and hypotheses: To investigate whether the clinical indicators of family history of obesity and/or Type II diabetes, acanthosis nigricans, and increased waist circumference are associated with insulin resistance, as calculated by the Mat...