ESPE Abstracts

The majority of individuals with disorders/differences of sex development (DSD) do not have a genetic etiology. However, recently new genes causing DSD have been reported and using the unbiased approach of whole exome sequencing (WES) the diagnostic yield should be improving. Here, we performed WES on a large cohort of 125 individuals all of Algerian origin, who presented with a wide range of DSD phenotypes. Parental consanguinity was reported in 36% of individuals. The geneti...

The syndrome of thyroid hormone resistance (THR), is an inherited condition that occurs in 1 of 40,000 live births characterized by a reduced responsiveness of target tissues to thyroid hormone due to mutations on the thyroid hormone receptor. We report the case of a girl who presented at 18 months of age with growth retardation persistent tachycardia and chronic diarrhea, serology testing for coeliac disease was negative. Serum levels of total and free T4 and T3 were elevated...

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: Central diabetes insipidus (DIC) is usually the final result of lesions affecting the hypothalamic–neurohypophyseal system, for the children, germinoma is the main reason. The MRI aspect is often limited to thickness pituitary stalk with loss of hyperintensity of the neurohypophysis.Objective and hypotheses: Thickening of pituitary stalk is suggestive of germinoma, the clinical picture is dominated by a DIC (90%), associated to hypopitui...

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...