ESPE Abstracts

Background: Hormonal replacement in boys with congenital Hypogonadotrophic Hypogonadism (HH) as well as hormonal repair of bilateral cryptorchidism and micropenis remain a challenge in pediatric endocrinology.Methods: In the «REMAP» study ISRCTN13007297 eight neonates and infants, all with bilateral cryptorchidism in intra-abdominal position and micropenis (≤2 cm), with absence of neonatal male-mini puberty were treated for 3 months with ...

Background: GNAS 1 gene (guanine nucleotide binding protein, alpha stimulating) encodes the alpha subunit of the stimulatory guanine nucleotide-binding protein (G-protein). Variations in the GNAS 1 can cause several disorders including Pseudohypoparathyroisism Type 1A (PHP1A), Type 1B (PHP1B), Type 1C (PPHP1C), Progressive Osseous Heteroplasia (POH), Pseudopseudohypoparathyroidism (PPHP) and McCune-Albright syndrome (MAS).Objectives: To report 2 patients...

Background: Osteogenesis imperfecta (OI) due to COL1A1 and COL1A2 mutations is the most common cause of primary osteoporosis.Case presentation: We present a 10-year-old girl with a history of skeletal fragility, starting in the perinatal period. Her parents are not consanguineous and there is no family history of early osteoporosis. To date, she has sustained nineteen low-energy, long bone fractures and she has skeletal deformities (leg length discrepanc...

Introduction: Body composition analysis is a painless, bloodless and highly informative method of assessing health indicators that can be used extensively in the pediatric population. This is particularly important granted that the prevalence of childhood obesity has been increasing at a fast pace worldwide. Increased adiposity in children and adolescents is an important issue for children’s growth and psychologic development. Assessing the psychosocial status of children...

Introduction: Increased adiposity has been associated with smoldering systemic inflammation and metabolic syndrome manifestations, leading to further morbidity by increasing the risk for type 2 diabetes mellitus and cardiovascular disease in adults. Similar analyses have not been performed systematically in children and adolescents.Hypothesis: This study investigates the interrelations between body composition parameters and indices of inflammation and m...

Background: Individuals with celiac disease are more likely to develop autoimmune thyroid disease compare to the general population and vice versa. Undiagnosed in childhood and adolescence, both diseases compromise final height. Clinical experience shows that near complete catch-up growth is possible in infants and young children, but not in children near or in puberty.Objectives: To report on the impressive acceleration of arrested growth in a 13 year o...

Background: Hormonal replacement in boys with congenital HH remains a challenge. Micropenis has been traditionally successfully treated with 3 monthly injections of testosterone enanthate before the age of 2, but when bilateral cryptorchidism coincides, surgery is required. But even after a successful surgery, the hypoplastic testes with the deficient proliferation of immature Sertoli cells, due mainly to the lack of the male mini-puberty in the neonatal period as well as the ...

Background: Attention-deficit/hyperactivity disorder (ADHD) is the most prevalent neurodevelopmental disorder worldwide. Evidence suggests dysfunction of the fronto-subcortical pathways and the dopaminergic and noradrenergic systems, as well as dysregulation of the stress system, i.e., the hypothalamic–pituitary–adrenal (HPA) axis and the sympathetic nervous system (SNS).Objective and hypotheses: The aim of the study was to examine i) the diurn...

Background: Adrenal incidentalomas(AIs) are adrenal masses discovered occasionally by radiological evaluation in the absence of clinical features of adrenal disease. Clinical evaluation is important in patients with AIs. AIs are bilateral (10–15%); manifest as nonfunctioning cortical adenomas (70–80%), pheochromocytomas (1.1–11%), subclinical Cushing syndrome (5–20%), primary aldosteronism (1–2%), primary adrenocortical carcinomas (<5%) and metasta...

Background: It has already been documented that selenium treatment has beneficial effects in adult patients with autoimmune thyroiditis, especially in those with a higher titer of antibodies and increased inflammatory disease activity.Objective and hypotheses: To investigate whether daily supplementation of organic selenium at a high dose (200 μg in the form of L-selenomethionine) has any effect on the titer of thyroid autoantibodies.<p class="a...