ESPE Abstracts

Background: Congenital adrenal hyperplasia (CAH) is a pathology with a genetic deficiency of one of the enzymes of steroidogenesis. It is due to 21 –Ohase deficiency in 90–95% of cases. The complete deficiency of this enzyme is responsible for the classic form (sexual ambiguity at birth with or without salt loss). While the partial deficiency results in a polymorphic clinical presentation occurring in childhood or adolescence. In rare neglected cases, the diagnosis i...

Background: Primary hyperparathyroidism (PHPT) in children and adolescents is rare. Sporadic forms are more frequent and correspond, usually, with an adenoma (73%). Most rare familial forms (7%) are related to hyperplasia. They may be isolated or integrate with multiple endocrine neoplasia (MEN). The PHPT is revealed mostly by chronic bone pain increased by pressure, walking and exercise, arthralgia, growth failure and nonspecific late deformities.Object...

Background: GH deficiency (GHD) rarely reveals at birth. Pregnancy is proceeding normally. The size and weight are generally normal and the birth occurs at terms. In some cases, neonatal markers and other pituitary deficits are present and allow early diagnosis.Objective and hypotheses: Report neonatal characteristics of GHD.Method: 107 children GHD were followed. The interrogation noted the progress of pregnancy, childbirth, weigh...

Background: Pituitary adenomas are rare in children. Most of them are found in adolescents. Macroadenomas and secreting adenomas are the most common. They can be sporadic, familial, belong to tumor syndromes and be associated with distinct genetic defects.Objective and hypotheses: Report phenotypic and genotypic characteristics of pituitary adenomas in children.Method: Eight children with pituitary adenoma were identified in 20 yea...

Background: Turner syndrome (TS) has several defects affecting different organs. Heart defects are the most common. They can be symptomatic (Heart murmur, high blood pressure) or diagnosed systematically. The chromosomal profile affects the nature of the anomalies encountered.Objective and hypotheses: Report cardiac abnormalities in the ST.Method: This is a retrospective study of 60 TS patients identified in 20 years. Mean age was ...

Background: Transient neonatal hypothyroidism (T N HT) is a rare entity important to recognize. It is due to placental transfer of antibodies antirécepteurs of pituitary TSH. It is distinguished from permanent congenital forms of hypothyroidism, because it requires only limited substitution treatment in time.Objective and hypotheses: Report the observations of 6 children who presented T N HT.Method: This is a retrospective stu...

Background: Cushing’s syndrome in children and adolescents is rare. Its clinical and biological symptoms are severe with a significant impact on growth and puberty and poor prognosis.Objective and hypotheses: Report clinical, etiological and evolutionary characteristics of Cushing’s syndrome in children and adolescents.Method: This is a retrospective study of 45 children and adolescents with Cushing’s syndrome hospit...

Background: PEA is a rare disease characterised by the coexistence of two endocrine autoimmune deficiencies, sometimes with a non-endocrine autoimmune disease associated concomittente of occurrence or metachronous way. Depending on the age of onset of the disease and the characteristics observed, we can distinguish several subgroups.Objective and hypotheses: Search frequency of PEA in children and adolescents and study their phenotype.<p class="abste...

Background: Dysfunction of the parathyroid gland is a rare cause of hypocalcaemia. It may be caused by a deficiency or resistance to PTH. Generally symptomatic It can be hereditary, congenital or acquired.Objective and hypotheses: Analysis of clinical, paraclinical, etiological and progressive children’s and adolescents hypocalcaemia by parathyroid dysfunction.Method: This is a retrospective study of hypocalcaemia by parathyro...

Background: Child Obesity is a major health problem. It is mainly due to a high diet and low physical activity. In some cases, they may be due to genetic causes. It must be detected and treated precociously due to an increased risk of early onset of diseases, including diabetes and heart disease.Objective and hypotheses: Search the frequency, clinical and etiological characteristics of obesity in children and adolescents.Method: Th...