ESPE Abstracts

Background: 125 patients between the ages of 6 and 12 years old were studiet, 100 of them were girls and 25 were boys. All of them were on medication with TSH. They were all residents in urban areas belonging to middle/upper strata of society.Objective and hypotheses: Changing it for the ingestion of nutriments. Physical exercise during at least 5 days a week. Medical treatment consisting of ferrous fumarat and folic acid.Method: D...

Background: Children with SCA are six times likely to be vitamin D deficient. The prevalence of VDD in SCA is 65–100% (USA, Jeddah, Spain, England). Reasons for these include: recurrent illness, hospitalization, Increase resting energy expenditure, poor appetite, inadequate food intake, increased energy & micronutrient needs and probably excessive body covering. VDD in SCA is associated with increasing co morbidities. However, there are no studies from Nigeria the cou...

Background: Familial Hypocalciuric Hypercalcemia (FHH) type 1 is a benign condition of hypercalcemia with autosomal dominant inheritance caused by pathogenic variants in the calcium-sensing receptor gene (CASR). CaSR plays a crucial role in the regulation of calcium balance. Inactivating mutations in CASR result in altered calcium-sensing and inappropriate parathyroid hormone (PTH) release concerning the calcium concentration. Dysplasia Epiph...

Background: A compromised final height (FH) is a concern in patients diagnosed with congenital adrenal hyperplasia (CAH). The lack of achievement of the genetic target height (TH) can be attributed to treatment with high doses of corticosteroids and high levels of adrenal androgens. Despite the emergence of new therapeutic modalities such as the use of anti-androgens and growth hormone it has been shown that a favorable FH can be achieved with careful use of corticosteroids.</...

Background: TSH cut-off (CO) levels has been lowered progressively in many screening programs. Nevertheless, population detected with lower CO levels differs in severity and etiology.Objective and hypotheses: To describe the etiological characteristics and severity of children detected by neonatal screening related to CO TSH levels.Method: We analysed the data of congenital hypothyroidism (CH) neonatal screening performed between J...

Background: Hypercortisolism due to PPNAD may be cyclical, atypical and may develop suddenly or progressively.Objective and Hypotheses: The performance of salivary cortisol (SF) in this rare cause of Cushing’s syndrome (CS) is lacking.Method: Ten patients (nine F/one M) with PPNAD (two sporadic; eight Carney complex) were evaluated. Among these, six had CS family history, while in two the diagnosis was confirmed by germline PR...

Introduction: Type 1 diabetes (T1D) is a chronic autoimmune disease characterized by the presence of pancreatic-autoantibodies, which are diagnostic biomarkers. The detection of autoantibodies in first-degree relatives of patients with T1D is considered a risk factor for developing the disease; however, there is little information on how long it takes from the detection of autoimmunity to the clinical onset of T1D.Objectives:</st...

Background: Polyuria and polydipsia syndrome (PPS) workup is not straightforward, especially in children. Basal investigations are often not reliable in distinguishing among diabetes insipidus (DI), central (CDI) or nephrogenic (NDI), and primary polydipsia (PP). Water deprivation test (WDT) is often essential, although uncomfortable and not always reliable enough to recognize partial DI. Plasma AVP investigation is not routinely used in the diagnostic pathway...

Background: Inherited epidermolysis bullosa (EB) comprises a cluster of genetic disorders characterized by blistering of skin and mucosae following minimal mechanical traumas. Severely affected individuals have high risk of extracutaneous complications, including chronic undernourishment and low bone mass.Objective and hypotheses: The aims of this study were to assess the areal bone mineral density (aBMD) and vitamin D status of children and adolescents ...

Background: Pre-eclampsia is associated with important complications for both mother and baby in the short term, but there are limited data about its long-term effects on offspring metabolism. Thus, we aimed to assess whether maternal pre-eclampsia was associated with adverse effects on metabolism and body composition in the offspring in childhood.Methods: We studied healthy pre-pubertal children (aged 4–10 years) b...