ESPE Abstracts

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: The ganglioneuroma (GN) is a benign tumor of the sympathetic nervous system following the sympathogonies that affects children and young adults. This is a rare tumor (7/1 000 000) which can be located along the sympathetic chain from the neck to the pelvis. In 20% of cases, the GN is localized in the adrenal.Objective and hypotheses: Report observations of eight patients with GN.Observations: Eight patients (two boys an...

Background: Turner syndrome (TS) is the most common chromosomal abnormality in females (prevalence 1/2500 births). It is related to the absence or abnormality of one of the two X chromosomes. It is characterized by a short stature, gonadal failure and a many diseases that reduce life expectancy of patients.Objective and hypotheses: Report clinical, hormonal, cytogenetics, and evolutionary TS characteristics then correlate the karyotype and clinical expre...

Background: Disorders of sexual differentiation (DSD) at birth is a serious defect often seen in endocrinology. Diagnosis must be early to ask an etiologic diagnosis, choose the sex of rearing and effectively treat the disease.Objective and hypotheses: Search etiologies of sexual ambiguities and clarify the phenotypic characteristics.Method: This is a retrospective study of 180 sexual ambiguities hospitalized. All patients underwen...

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...