ESPE Abstracts

Background: The phenotypic spectrum of short stature homeobox-containing gene deficiency disorders (SHOX-D) ranges from non-specific short stature to Leri-Weill dyschondrosteosis. Current guidelines support rhGH in SHOX-D children, but long-term data are still lacking. Moreover, no correlation has been established yet between the severity of phenotype, including the response to rhGH, and the underlying SHOX pathogenic variant.Aims: To ev...

Background: Controlling therapy of infants, especially from neonates onwards, with classic congenital adrenal hyperplasia (CAH) is challenging due to the lack of reference values.Methods: We retrospectively analyzed 158 spot urinary steroid hormone metabolite profiles determined by gas chromatography–mass spectrometry (GC-MS) of 60 infants aged 0–4.2 years with classic 21-hydroxylase deficiency (21-OHD) on hydr...

Background: Optimisation of hydrocortisone replacement therapy remains challenging due to complex pharmacokinetics as circulating cortisol is protein bound mainly to corticosteroid-binding globulin (CBG) that has a circadian rhythm.Objective: A detailed analysis of the CBG circadian rhythm and its impact on cortisol exposure during hydrocortisone replacement therapy.Methods: CBG was measured over 24 h in 14 healthy...

Background: Vitamin D deficiency in children clinically manifests as rickets causing growth impairment and bowing of the long bones, potentially increasing the ratio between crown-rump length and length (CRL:L) or sitting height and height (SH:H).Objective and hypotheses: We investigated whether CRL:L in 19-months-olds and SH:H in 36-months-olds were lower with higher cord 25hydroxyvitamin D (25OHD).Method: Participants were includ...

Background: GH-secretion rates for children ranges in pre/early puberty 0.1–11 U/24 h and during mid-puberty 4–40 U/24 h. This can be used to optimize the rhGH treatment doses in children.Objective and hypotheses: To calculated the bioavailable rhGH in relation to injected dose and compare this to GH-secretory rate in healthy children; and to investigate factors influencing bioavailability.Method: One hundred and twenty e...

Background: We aimed to assess whether or not anthropometric indices such as weight circumference (WC), waist/hip ratio (WHR), waist-height ratio (WHtR), and weight for height (W/H) are predictors for metabolic syndrome (MetS) among obese children and adolescents. We aimed to describe effects of gender and pubertal status on these anthropometric indices.Method: A total of 291 obese children and adolescents (160 girls and 131 boys, age range: 6–16 ye...

Background: Subjects with impaired glucose tolerance (IGT) are at risk for type 2 diabetes mellitus (T2DM) and cardiovascular disease. The predictors of IGT in obese youth are not well described.Objective and hypotheses: We aim to evaluate insulin dynamics and biochemical markers for predicting IGT in Thai obese youth.Method: We studied 115 obese Thai children who underwent an oral glucose tolerance test (OGTT). Plasma glucose and ...

Background: GH deficiency (GHD) occurs due to different aetiologies, morphological abnormalities in pituitary, or mutations leading the individual to lose the genetic growth potential. The pituitary dysfunction can be as GHD alone or associated with other hormones deficiencies. Patients with abnormalities in pituitary may present a greater height loss than others and couldn’t reach the target height (TH) according to final height (FH).Objectives: To...

Introduction: The reported occurrence and management of acute adrenal insufficiency (AI) – related adverse events (AE) vary widely between centres and may depend on available resources.Aim: To use the data within the I-CAH Registry to understand the association between the occurrence and management of AI related AE, their management and the availability of local resources.Methods:</st...

Introduction: Despite existing guidelines there is no unified approach to glucocorticoid and mineralocorticoid replacement in congenital adrenal hyperplasia (CAH). Consequently, treatment varies in adults and children as well as across countries.Objective: We used data from the I-CAH Registry to identify geographical and temporal variations in the treatment with glucocorticoids and mineralocorticoids of children and adul...