ESPE Abstracts

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...

Micropenis is defined as a penile length less than 2.5 SD below the mean value for a given age (eg, <2.5 cm at term). Nowadays, it should be also diagnosed in utero by sonography. The incidence of micropenis has been reported as 1.5/10.000 male infants in Usa, 5/1.442 in France and 18/2710 in Brazil, suggesting geographical differences or different assessment. Micropenis represents a clinical sign, that may be part of various clinical conditions, such as hypogonad...

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...

Objectives: The obesity in population of children and adolescents is one of the biggest public health problems in word today. Early childhood obesity with cluster of metabolic disorders (insulin resistance, impaired glucose tolerance, dyslipidemia and hypertension) are risk factor for cardiovascular morbidly and mortality later in life. Catestatin is a Chromogranin A derived peptide which reduces hepatic/plasma lipids, plasma insulin, improves insulin sensitivity, reduces hype...

Background: Heat generation in UCP-1 active cells as present in brown adipose tissue contributes to the regulation of energy homeostasis. Brown adipose tissue is known to be present in neonates and infants and has recently also been demonstrated in children and adults. Interestingly, a transition of white adipocytes into a brown phenotype has been documented in vitro in mouse and human cells, yet the underlying mechanisms are still not resolved. Using transcriptome an...

Background: Childhood tumours of the hypothalamic pituitary axis (HPATs) are very rare and hence any single centre experience is limited. Without evidence-based guidance, treatment is individualised on a case basis. Survival rates are high, but at the expense of significant morbidity. Centralised care or wider multi-professional consultation may improve neuroendocrine and visual outcomes.Objective and hypotheses: i) To facilitate multi-professional dialo...

Background: Septo-optic dysplasia (SOD) is a highly heterogeneous condition with a variable phenotype, defined as two or more features of the classical triad: i) optic nerve hypoplasia, ii) midline brain defects, and iii) pituitary hormone abnormalities.Objective and hypotheses: To describe the clinical, endocrine, and neuroimaging features in eight children with SOD.Method: Eight (six males) consecutive patients, diagnosed with SO...

Background: Osteoporosis is a complex disorder, influenced by both environmental and genetic factors. Primary osteoporosis is a rare early onset disorder with high morbidity and mortality. Wnt signaling pathway has been shown to be involved in the regulation of bone remodeling.Case: Native Argentinean boy born from a consanguineous family with history of retinal detachment in the maternal line. Delivered at term, birth weight 2900 g (−0.95 SDS), bi...

Background: Prevalence and severity of obesity and associated comorbidities are increasing in adolescents. Data on neck and upper arm (UA) circumference in addition to established anthropometric measures to define cardiometabolic risk are limited to date.Methods: Data from Phase I of the EU-funded PreSTART-study (trial registration number NCT02545140) was applied. Demographic, clinical, biochemical and lifestyle data were collected in adolescent...

Primary adrenal insufficiency (PAI) is a rare, potentially life-threatening, condition due to abnormalities of steroid biosynthesis or of adrenal gland development and responsiveness. PAI is characterized by impaired secretion of glucocorticoids and can be accompanied by mineralocorticoid and adrenal androgens deficiency or excess, depending on the underlying cause. In adults, the most common etiology is represented by autoimmunity. In contrast, the disease in children is more...