ESPE Abstracts

Introduction: Classic congenital adrenal hyperplasia (CAH) caused by 21-hydroxylase deficiency results in impaired synthesis of gluco- and often also of mineralocorticoids. Early treatment with glucocorticoids and mineralocorticoids prevents life-threatening crises. In some centres, additional salt is prescribed in the first year. However, until now the use of salt is controversial and not proved to result in better outcome in studies.<s...

Anthropometric somatotype components show significant resemblance in monozygotic (MZ) and dizygotic twins (DZ) twins within each sex with a greater resemblance within MZ twin pairs than within DZ twin pairs. In many studies a significant positive correlation was found between the parental height and the height of girls with TS.This girl with Turner syndrome {46, X, i(Xq) presented at the age of 7.5 years for evaluation of her short stature. Her clinical ...

Background: Relatively little is known about endocrine function, bone mineral health, and growth during oral iron chelation therapy (OIC) in β-thalassemia major patients (BMT) on treatment with deferasirox.Aims of the study: To measure the final adult standing height (FA-Ht) and the frequency of endocrine complications in relation to their liver iron content (LIC) and insulin-like growth factor 1 (IGF-I) concentration. Patients were grouped into two...

Birth chest circumference(CC) shows often, like birth gestational age(GA), tight direct relations to birth body weight(BW). However distinct connections of hypoxia/undernutrition with different body structures might be suspected based on brain-, heart- and adrenal-sparing following intrauterine growth restriction and, postnatally, on higher chest size for body mass observed at high altitude. Low BW and hypoxia may be associated with circulating Insulin-like Growth Factor-I(IG1...

Introduction: Human newborn(NWB) respiratory derangements may be concomitant to oral/enteral caloric intake (KOE) insufficiency. We evidenced a possible involvement of axillary temperature(TEMP) in relationships between preterm birth (PTB) and blood serum Insulin-like Growth Factor-I(IG1) in NWBs. Here we evaluate the TEMP-independent role of birth gestational age(GA) and KOE in relations of O2 supplementation in respiratory gases(O2S) to IG1 in the not-life-t...

Human imprinting disorders are congenital disorders of growth, development and metabolism, associated with disturbance of gene dosage at imprinted loci across the genome. Causes of disease include point mutations, structural variants, uniparental disomy and ‘epimutations’ with a parent of origin specific effect. Further complexity underlies the causes of the epigenomic errors that may be the result of genetic and environmental factors at different times during the de...

Background: Birth chest circumference (BC) may be related to Insulin-like Growth Factor (IGF)-Binding-Protein-3 blood serum levels (IB3) in the human newborn (NWB).Objective and hypotheses: We evaluated the relevance of birth body weight (BW) to birth crown-heel length (BL) ratio (BW through BL, BW/BL) in BC relations to IB3 after control for BW for birth gestational age (GA)<=10th centile (SGA), respiratory O2 supplementation (O2S), assisted ventila...

Background: Birth chest circumference (BC) may be related to Insulin-like-Growth-Factor-I blood serum levels (IG1) in the human newborn (NWB).Objective and hypotheses: We evaluated the relevance of birth body weight (BW) to birth crown-heel length (BL) ratio (BW through BL, BW/BL) in BC relations to IG1 after control for BW for birth gestational age (GA)<=10th centile (SGA), respiratory oxygen supplementation (O2S) and assisted ventilation of any kin...

Pediatric severe obesity is a major threat to health and longevity. Around 7% of children worldwide have early onset severe obesity before the age of 7. Pediatric obesity is caused by an interplay of multiple factors: lifestyle, environmental, sociocultural, psychological, biological and genetic factors. Endocrine, monogenetic or syndromal causes are rare, but currently underdiagnosed and important to identify for the need of specific treatment. Cardiovascular risk factors and...

In Turner Syndrome (TS) the ovaries usually start to involute within 4 or 5 months of gestation. Consequently, the majority of patients have diminished ovarian estrogen production leading to the (Partial) absence of puberty. These girls need estrogen therapy to induce pubertal maturation. For many parents of girls with TS, talking about ovaries, puberty and, particularly, infertility is a stressful thing. However, timely age-appropriate disclosure about these subjects, startin...