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...

Objective: This study was designed primarily to estimate whether there is an association between neonatal anthropometric parameters on one hand and cord blood levels of insulin, leptin, IGF1 and lipid profile on the other hand in offspring of diabetic mothers.Method: A total of 60 full term infants of diabetic mothers and 40 healthy infants of non-diabetic women participated in the study. Detailed anthropometric assessment of the newborn, head circumfere...

Background: Hormone deficiency no or late treated causes delayed puberty and reduced final height.Objective and hypotheses: Assess the progress of puberty in isolated GH deficient (GHD) patients.Method: 34 patients with GHD in puberty were followed in endocrinology. The average age at diagnosis of GH deficiency was 8±2.4 (7–19) in girls and 9±1.2 (8–18) in boys. The majority of patients received an irregular GH ...

Background: Most organs including bone are affected in type 2 Diabetes (T1D) mechanisms. The exact mechanism of bone derangement is still unknown.Aim of work: i) Assessment of Pyridinoline crosslinks as a bone resorption marker and alkaline phosphatase as a bone formation marker in T1D in children & adolescents. ii) To determine the effect of glycemic control and disease duration on bone turnover.Subjects and methods: 39 T1D pa...

Background: Almost all diabetic patients eventually develop skin complications from the long-term effects of diabetes mellitus. Cutaneous manifestations generally appear subsequent to the development of diabetes but may be the first presenting sign, or even precede the diagnosis.Objective and hypotheses: To detect the prevalence and spectrum of skin manifestations in type 1 diabetic (T1D) patients attending the Diabetes Endocrine and Metabolism Pediatric...

Background: Persistent Müllerian duct syndrome (PMDS) is a relatively rare autosomal recessive disorder of sex development (DSD), characterized by the presence of Müllerian duct derivatives in 46,XY phenotypic males. PMDS is due to mutations in the AMH gene or its type II receptor gene AMHR2. To date; more than 50 different mutations of the anti-Müllerian hormone (AMH) gene have been reported.Case report: Here, we report a novel mutation o...