ESPE Abstracts

Background: Differences of sex development (DSDs) (conditions with atypical development of chromosomal, gonadal or anatomic sex) are classified into three groups: sex chromosome DSD, 46,XYDSD and 46,XX DSD. Around 1 newborn in 5000 presents ambiguous genitalia with a major challenge for male or female assignment. The identification of a genetic cause can contribute to a correct diagnosis and to optimize both management and genetic counselling.<p class="abs...

Background: Coeliac disease (CD) can be associated with impaired growth in children after a prolonged period of Gluten-free diet (GFD). A small percentage of CD patients does not show catch-up growth during GFD because of GH secretion deficiency (GHD) that could be associated with antipituitary autoantibodies (APA).Objective and hypotheses: This study aims to evaluate the efficacy of recombinant human GH (rhGH) therapy on final adult height in children w...

Background: Adolescents affected by chronic diseases need a specific support and care, in a contest dedicated to them and not integrated with children. They often ask a specific attention to their asks, only partially secondary to their primary disease.Objective and hypotheses: The need of a support in communication of the diagnosis, in the adherence to a long-life or to a prolonged treatment and a long follow-up, with repeated blood samples, strumental ...

Background: Congenital hypothyroidism (CH) is an important and preventable cause of growth retardation and neurological deficit. Early treatment is crucial to minimize long term effects and today regimens tend to be more aggressive targeting hormonal control.Objective: To correlate CH severity at diagnosis with levothyroxine (LT) dosage and time needed to control TSH levels.Methods: Retrospective study including children with CH at...

Background: Patients who had undergone hematopoietic stem cell transplantation (HSCT) during childhood have been reported to have a higher risk of early metabolic syndrome (MS) and diabetes mellitus (DM) with a consequent increased risk of cardiovascular disease. Previous studies reported a cumulative incidence of abnormal glucose tolerance of 11.6% at 5 years from HSCT and of 69.3% at 10 years and a prevalence of MS of 32% at 4 years from HSCT.Objective...

Background: Hypothyroidism has been associated with cognitive and motor impairments, the degree to which mild hypothyroidism, or subclinical hypothyroidism impacts mood and cognitive functions and whether these symptoms respond to treatment, remains controversial. Furthermore, hypothyroidism is associated with an increased susceptibility to depression and reductions in health-related quality of life.Objective and hypotheses: Recent longitudinal studies s...

Background: Congenital adrenal hyperplasia (CAH) is a recessive disease in 90% caused by 21-hidroxilase deficiency. The clinical manifestations are related with the severity of enzyme deficiency and are classified in classical and non classical forms. The classical form is the most severe with genital ambiguity in female newborns and universal virilisation. In 75% there is also aldosterone deficiency with salt wasting.Objective and hypotheses: To describ...

Background: Diabetic ketoacidosis (DKA) is a medical emergency. The most physiologic fluid/electrolytes replacement rates and insulin dosis are still controversial.Objective and hypotheses: To evaluate the effectiveness and security of DKA treatment. Our protocol consists of 2 h’ rehydration with 0.9% sodium chloride (NaCl), followed by insulin infusion (0.1 U/kg per h) associated to 0.45% NaCl with 5% glucose. Potassium is replaced with monophospha...

Background: Graves’ disease (GD) is the most common cause of hyperthyroidism in fertile woman and can cause fetal and neonatal hyper or hypothyroidism. It is associated with transplacental transfer of maternal thyrotropin receptor antibodies (TRAb).Objective and hypotheses: The main objective of this study was to characterize the neonates born to women with GD followed in a pediatric endocrinology reference unit.Method: A retr...

Context: Congenital adrenal hyperplasia (CAH) is a rare genetic defect. Its prevalence is estimated at one case per 3,000 births in Algeria and one case per 15,000 births worldwide. The most common form is due to 21-hydroxylase deficiency associated with mutations in the 21-hydroxylase gene, which is located at chromosome 6p21. Molecular defects of CYP21A2 systematically decrease the activity of this enzyme and result in expression of varying severity and phen...