ESPE Abstracts

Background: Glucose monitoring is vital in children with persistent hypoglycaemia to reduce the risk of adverse neuro-behavioural outcomes1. Continuous glucose monitoring (CGM) systems provide real-time glucose levels however; information on its usefulness in monitoring glucose levels in this cohort is limited2, 3.Objective: To ascertain the effectiveness of CGM and to evaluate parents’ experie...

Background: Turner syndrome (TS) predisposes to obesity and related metabolic disorders and presents a high risk of congenital heart defects. Growth hormone (GH) treatment used in TS girls also affects the parameters of carbohydrate-lipid metabolism. Thus, the search for new markers that could be early predictors of metabolic disorders seems to be justified.Objective and Method: The assessment and comparison of MMP-1, MMP-2, MMP-9 (matri...

Background: In 2022, 1.52 million children and adolescents worldwide were diagnosed with type 1 diabetes mellitus (T1DM). During COVID-19, diabetic ketoacidosis (DKA) episodes in newly-onset and established cases increased in 44.2% and 30.1% of paediatric diabetes centres, respectively. In 2017-2019, 1,249 children were diagnosed with T1DM in Indonesia, and 70% were diagnosed with DKA at diagnosis in 2017. Changing Diabetes in Children (CDiC) is a public-priva...

Background: Diazoxide therapy is used as first line treatment in hyperinsulinaemic hypoglycaemia (HH). Apart from a single study reporting efficacy of low dose diazoxide in small for gestational age (SGA) infants, diazoxide has been reported to be used in doses of 5-20 mg/kg/day [1].Objective: To report the outcomes of infants with HH responsive to low dose diazoxide (≤5mg/kg/day).Method...

Background: The timing of puberty is influenced by different factors, one of which is body composition. The aim of the current study was to investigate if anthropometric indicators of body composition, body mass index(BMI), waist circumference(WC), subscapular skinfold(SSF) and body fat percentage(BF%) were differentially associated with occurrence of breast development, pubic hair and menarche in Norwegian girls.Methods:</strong...

Background: Newborn screening for CAH is effective in identifying the severe cases; however, the high rate of false-positive (FPR) results remains an important issue. Therefore, positive neonatal results must be confirmed by serum 17OHP levels, which present a great overlap among all forms.Objective and hypotheses: To evaluate the utility of molecular analysis to improve CAH diagnosis in NBS program.Method: Between 1999 and 2014, 8...

Background: Studies on the follow-up of 46,XY partial gonadal dysgenesis (PGD) patients till adulthood are scarce and it is important to provide information to parents on the prognosis of gonadal dysgenesis.Objective and hypotheses: To analyze the long term outcomes of 46XY PGD patients in both social sexes regarding testosterone production, social sex adaption and genotype.Method: Retrospective longitudinal study conducted at Hosp...

Background: Main concerns of Congenital Adrenal Hyperplasia Newborn Screening (CAH-NBS) are the high false-positive results (FPR) rate, low positive predictive value (PPV) and heterogeneity of confirmatory tests. Considering the CAH-NBS implementation in our country, our.Objectives: Objectives are to optimize the Neonatal 17OH-Progesterone (N17OHP) cutoffs and to evaluate the best serum confirmatory test.Methods: 473 983 newborns w...

Introduction: Complete Androgen Insensitivity Syndrome (CAIS) is characterized by a complete external genitalia appearance and testicular development in 46,XY individuals harboring pathogenic allelic variants in the AR gene. Due to growing evidence regarding the low risk of germ cell tumors (GCT) in AIS. Prophylactic gonadectomy has been debatable in the CAIS management, mainly due to the absence of an accurate biomarker for GCT....

Indels are highly abundant in human genomes and have contributed massively to genome evolution. However, the role of indels and their underlined mechanisms of mutagenesis in Mendelian disorders still needs to be appreciated. To explore the contribution of indels in a monogenic disorder, we analyzed all indels already described in the AR gene, including three novel indels found in our cohort. We analyzed the indel distribution through the AR coding region, compared wit...