ESPE Abstracts

Background: Disorders of Sex Development (DSD) are a rare disease often caused by complex genetic mechanisms, with a wide spectrum of clinical manifestations that lead to a continous evolution of the diagnostic classification. From 2002, In the Veneto Region, all DSD diagnoses have been collected thanks to the creation of a Registry for Rare diseases, including DSD.Material and Methods: We could retrospectively analyze t...

Introduction: Hyperthyrotropinemia is common in patients with obesity and has been hypothesized that high TSH could be associated with an adverse metabolic profile. Few studies have been performed in pediatric population and the results are controversial.Objective: Aim of the study was to evaluate the association between TSH and metabolic syndrome (MS) in a large group of obese children and adolescents.<p class="abst...

Background: Few previous studies suggested an association between insulin resistance (IR) and TSH serum levels in euthyroid patients. This relation could have some particularities in populations characterized by intrinsic insulin resistance like polycystic ovary syndrome (PCOS) patients.Objective and hypotheses: The aim of our study was to study the relationship between IR and TSH serum levels in adolescent euthyroid PCOS patients....

Background: Dent’s disease is an X-linked recessive proximal tubulopathy characterized by low molecular weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis, and progressive renal failure. Growth retardation, due to resistance to GH action is a feature commonly associated with Dent’s disease.Case report: We describe a boy diagnosed with Dent disease, treated with recombinant human GH. He was initially referred at 6 years of age...

Case report: A 13-year old boy treated with rGH for short stature due to isolated GH deficiency was submitted in our clinic in June 2014 for regular follow-up. From his medical history we note that he was diagnosed with GH deficiency in 2009 (−4.5 S.D.) and started treatment with rGH 0.035 mg/kgc per day since February 2009. The physical exam showed H=149.9 cm (−0.74 S.D.), 39 kg, Tanner P3G3 and a subcutaneous left paravertebral tumou...

Background: Congenital hypothyroidism (CH) is a treatable thyroid hormone deficiency that causes intellectual disabilities and growth deficiency if not detected and treated early.Material and Methods: We retrospectively analyzed the medical records of 22 patients, 13 (59%) females and 9 (41%) males, with positive CH screening at birth and confirmed by TSH & FT4 serum concentrations measurements, thyroid ultrasound an...

Introduction: Central diabetes insipidus (CDI) is a rare disorder in children. The etiology of CDI in childhood is heterogeneous: tumors or surgery in the hypothalamic-pituitary region, head trauma, vascular and inflammatory diseases. Neuroimaging plays an important role in the differential diagnosis of CDI in children and adolescents. The MRI may detect brain malformations, but also is the gold standard when evaluating the sellar-suprasellar region in CDI.</p...

Introduction: Although there are several studies on the incidence of congenital hypothyroidism (CH), there are few data showing incidence and evolution of CH detected by the second newborn screening (NBS).Objectives: To assess the incidence of CH in Lombardia region and the percentage of patients identified by the 2ndNBS. To describe the clinical features and evolution of CH patients detected by the 2nd</...

Objectives: To describe the auditory phenotype and dynamics of hearing thresholds in patients with Turner Syndrome (TS).Patients and Methods: Cross-section study evaluating the hearing thresholds in 246 TS patients (age range 4-44 yrs). Patients were divided into three age groups: Group 1 (79 TS, age range 4.0-12.9 yrs); Group 2 (109 TS, age range 13.0-25.9 yrs,) and Group 3 (66 TS, age range 26.0-44.9 yrs,). Pure tone a...

Objectives: To investigate prognostic markers (age, initial hearing level, karyotype, chronic hormonal therapies, and presence/absence of a mid-frequency dip influence) for hearing loss (HL) in Turner syndrome (TS).Design: Longitudinal cross-sectional and retrospective study.Study Population: 61 TS females (age range 4 - 45 yrs), diagnosed by cytogenetic analysis (49,2% monosom...