ESPE Abstracts

Background: SHOX-D is rarely diagnosed in early infancy as cause of short stature.Objective and hypotheses: Describe clinical characteristics of two girls with an early diagnosis of Leri-Weill dyschondrosteosis, admitted to our hospital because of severe short stature.Method: Mutation screening of SHOX and its regulatory regions was performed by MLPA. Family analysis was undertaken.Results: The first 1.3 year...

Background: Polyuria and polydipsia must never be underestimated.Objective and hypotheses: A 7-year-old girl presented with polyuria, polydipsia and nocturia of 1 year duration, during which she underwent outpatient follow up with her general practitioner and urologist. No weight loss or other endocrine signs.Method: Polyuria was confirmed by water balance (120 ml/kg per 24 h), urinary osmolality (222 mmol/kg), plasma osmolality (2...

Background: Xhantogranuloma of the sellar region (XG) is a very rare brain tumor and is clinically and pathologically distinct from classical adamantinomatous craniopharyngioma, but the differential diagnosis is difficult because there are no typical neuroradiological signes. The characteristic and the outcome of XG in children remain still unclear.Objective and hypotheses: We aimed to describe a case report of XG and multiple pituitary hormone deficienc...

Background: The correct diagnosis of growth hormone deficiency (GHD) and the definition of growth response in the management of growth hormone (GH)-treated children is controversial.Objective and hypotheses: To evaluate: i) short-term and long-term efficacy of GH treatment; ii) various criteria commonly used to define poor response to GH therapy and compare them in the same cohort of GHD patients.Method: Our study includes 94 child...

Background: Short stature may represent a significant psychosocial problem. The rationale for GH treatment has traditionally rested upon the clinical improvement in terms of growth and well-being. Great importance is also associated with the adherence to the therapy.Objective and hypotheses: We have investigated the benefits obtained by GH treatment, the factors that positively influence growth, the differences between ‘objective’ and ‘sub...

Objective: to assess the prevalence of endocrinopathies in a pediatric population of Rett syndrome (RTT) patients.Design: retrospective observational double center study.Methods: 51 caucasian patients (47 girls, 4 boy) with genetically confirmed diagnosis of RTT were enrolled (mean age: 9.65±5.9 years, range: 1-18 years). The patients were referred from the Rett Center of two It...

Introduction: The IGSF1 gene deficiency syndrome (IDS) is an X-linked disorder involving hormonal disfunctions. We report a case of Central Hypothyroidism (CH) due to a Xq26.1q26.2 microdeletion including the IGSF1 gene.Case: this boy was referred to our clinic for thyroid dysfunction. He was born at term by caesarean section due to maternal uterine myoma. Pregnancy was normal, parents were non consangu...

Background: The acid-labile subunit (ALS) is the crucial third player in the tertiary complex for its function of prolonging the half-life of the IGF1-IGFBP3 binary complexes. IGF1 and IGFBP3 are routinely determined during the diagnostic work-up for growth hormone deficiency (GHD). The aim of the study is to evaluate the relevance of serum ALS as an additional biomarker, alone or in combination with IGF1 and IGFBP3, in the diagnosis of GHD.<p class="abste...

Introduction: The term lipodystrophy describes a rare disease subdivided into a heterogenous group of even rarer subforms. The rarity of this disease makes research in this area extremely difficult and international co-operation is mandatory to accumulate data sets of sufficient size. The European Consortium of Lipodystrophy (ECLip) consisting of an association of European experts in the field of lipodystrophy has therefore decided to set up a registry for patients with lipody...

Background: The most common endocrine cause of growth disorders in childhood is growth hormone deficiency (GHD). The rare monogenic forms of GHD are inherited as autosomal dominant or recessive traits and manifest as isolated deficiency or in combination with other hormone deficiencies. Here, we report on a three-year-old girl with a severe growth retardation (height 77 cm, – 5.6 S.D.S.). She is the only child of non-consanguineous parents from northern Ira...