ESPE Abstracts

Introduction: Achieving metabolic control in children with type 1 diabetes (T1DM) is not an easy task. Despite the new profiles of insulins and therapies with continuous infusion, hypoglycemia continue to be the most important barrier that prevents us from correctly controlling these patients.Close control of capillary glycaemia is important for treatment adjustment. This self-control provides us with static information about capillary g...

Introduction: The prevalence of diabetes for all age-groups worldwide was estimated to be 28/1000 in 2000 and 44/1000 in 2030 (1). In the SEARCH study in a population of 3,458,974 US youth less than 20 yrs the prevalence of T1D was 1.93/1,000 and type 2 diabetes 0.24/1,000 (2).Methods: We reviewed data on already diagnosed patients with type 1 and type 2 diabetes from official statistical collection of Ministry of Health of Kazakhstan in 2016 (3).<p ...

Effective management of Type 1 diabetes can be challenging. We would like to discuss the management of a 7 year old boy with Type 1 Diabetes, Lissencephaly and global severe developmental delay with medically refractory epilepsy who was introduced to and managed on a Ketogenic diet to try and improve his seizure control. He is non mobile and non-verbal and purely gastrostomy fed. He has diagnoses including. Lissencephaly and band heterotopia, absent corpus callosum, microcepha...

TN was seen in India aged 7 years by her GP, with concerns about tall stature and increase in belly fat. She had a family history of diabetes, high cholesterol and early deaths. Her mother has diabetes, a round face and prominent limb musculature with very little subcutaneous fat. TN was investigated by a paediatric endocrinologist in India. Tests showed high triglycerides and insulin levels at the upper level of normal for her age. She was put on a strict diet and exercise pr...

Prediction of growth hormone (GH) therapy effectiveness in children with short stature is an important issue for optimizing its course. Recently, our research group has published prediction models derived with neural networks. The main predictors of final height (FH) in our model were: patient’s height SDS at therapy onset, pre-treatment change of height SDS (HSDS V0) and pre-treatment IGF-I and IGFBP-3 secretion but not the results of GH stimulation tests; the...

Prediction of poor response to growth hormone (GH) therapy in children with short stature is an important issue for personalized approach to treatment. Recently, our research group has published prediction models derived with neural networks. The main predictors of final height (FH) in our model were: patient’s height SDS at therapy onset (H0SDS) and pre-treatment IGF-I and IGFBP-3 concentrations but not the results of GH stimulation tests; pre-treatment growth...

Background: Short stature occurs in both Trisomy 21 and Turner syndrome. This unusual case has a de novo mutation of 47,X,del(X)(p22.3),+21 with clinical features of both syndromes. Growth assessment data and investigations was previously discussed in ESPE2016.Case: Following growth assessment due to parental concern that her short stature was too short for either syndrome and a falling height velocity of 3.5 cm/year at 2.8 years, the decision was made t...

Background: Testosterone levels in newborns are changing over the first weeks of life. This dynamic change is making the assessment of infants with ambiguous genitalia complicated. The Clinical laboratory at Karolinska offer two different methods for measurement of serum testosterone, ECLIA (electrochemiluminescense immunoassay) and Liquid chromatography–tandem mass spectrometry (LC–MS/MS). It is important to evaluate these two metho...

Background: Iodine deficiency is the most common cause of acquired hypothyroidism worldwide but rare in developed countries. Incidence of iodine deficiency may be rising due to increased popularity of vegan diets. There is minimal information on official health promotional webpages alerting to this risk.Case presentation: We present a 2.5yr old boy and his 6yr old sister from a family who adhere to a strict vegan diet and additional dietary restriction i...

Background: Data on anthropometric outcomes in patients with non-classical 21-hydroxylase deficiency (NCCAH) are sparse.Objective: To investigate long-term effects of NCCAH on height and weight.Method: A retrospective, cross-sectional study of 105 girls with NCCAH aged 8.4±4.1 years (0.4–18), mean follow-up 11.4±7.5 years. Outcome measures were height, weight and BMI, expressed as standard deviation score (SDS), at d...