ESPE Abstracts

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: 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-Hypothesis: Sudden initiation of treatment for diabetes insipidus (DI) with DDAVP causes abrupt volume expansion resulting in particularly high secretion of Atrial Natriuteric Peptide (ANP) (1). ANP blocks all stimulators of zona glomerulosa steroidogenesis, resulting in secondary mineralocorticoid deficiency and acute hyponatremia, causing renal salt wasting (RSW) (2). Cases: Two sisters, a 19-year-old girl (A) and a 7-year-old girl (B) with Wolfra...

Background: Wolfram syndrome (WS) is a rare autosomal recessive genetic disorder. We present two sisters from non-consanguineous parents, who presented to our pediatric endocrinology clinic due to severe polyuria-polydipsia with inappropriately treated DM (HbA1c 8.2% and 10.1%) and untreated DI.Methods: DNA was tested with PCR amplification and sequencing analysis (Sanger sequencing) of the entire coding region and all exon-intron splice junctions of the...

Introduction: Autoimmune polyendocrinopathy syndrome (APS) is an inherited rare autosomal recessive disorder caused by mutations of the AIRE (autoimmune regulator) gene with organ-specific autoimmune destruction of several, mostly endocrine. APS patients may develop autoimmune enteropathies and other intestinal dysfunctions.Aim: We describe a case of eosinophilic ascites in a nine-year-old girl with APS.<p c...

Background: Thyroid dysfunction may predispose to imbalanced body composition.Objective and hypotheses: The aim of the study is to evaluate bone, muscle and fat mass in teenagers with congenital hypothyroidism and correlate their bone profile with laboratory parameters, in an effort to offer more effective lifestyle counselling.Method: Adolescents diagnosed with congenital hypothyroidism through neonatal screening underwent thoroug...

Background: Obesity in childhood and adolescence represents a major health problem and its management requires a multidisciplinary approach.Objective and hypotheses: To assess the main eating habits of children and adolescents attending an Out-patient Clinic for the Prevention and Management of Overweight and Obesity in Greece, as recorded before implementing any intervention.Method: We studied 1005 children and adolescents [age ra...

Background: Hashimoto Thyroiditis (HT) and Graves Disease (GD) are conditions known to be caused by abnormal immune response against self-tissues. The biological processes at molecular lever are still poorly understood. A few epigenetic studies have been published so far.Objective: To investigate whether there are differences in DNA methylation within the HLADRB1, CD40L, FOXP3, CTLA4, FCRL3, IL2RA and PTPN22 promoters between young patients with autoimmu...

Background: Li-Fraumeni Syndrome (LFS) is an autosomal dominant hereditary cancer syndrome associated with germline pathogenic variants in in the TP53 gene and high risk of a broad range of early-onset malignancies. The 70-77% of LFS associated tumors are: breast cancer, soft-tissue sarcoma, brain tumor, osteosarcoma and adrenocortical carcinoma. However, ovarian, pancreatic and gastrointestinal track tumors are also LFS-related. The patients with LFS are at risk for a second ...

Background: A positive association between osteoprotegerin (OPG) levels and cardiovascular morbidity and mortality has been recently reported. Additionally, there is evidence that OPG in obese adults participates in the pathogenesis of atherosclerosis and cardiovascular diseases by promoting inflammation, which is known to be linked to insulin resistance (IR). There is few data regarding the relationship among obesity-IR-OPG, in youth.Objective and hypot...