ESPE Abstracts

Background: “Transient” Neonatal Diabetes Mellitus (TNDM) is a rare genetic beta cells dysfunction leading to hyperglycaemia that resolves in early childhood. About 80% of patients relapse during adolescence or adulthood. Glucose homeostasis had not been investigated in adulthood.Objective and hypotheses: To investigate insulin secretion and insulin sensitivity in adults affected with TNDM or in their 1st degree mutated relatives.</p...

Background: Neonatal hyperinsulinism is the most frequent cause of neonatal recurrent hypoglycaemia. The persistent form can be explained by mutations of genes involved in beta cell function, whereas the transient form can occur in case of prematurity, low birth weight, macrosomia, perinatal hypoxia, and maternal diabetes.Objective and hypotheses: As we observed an increase in the incidence of neonatal hyperinsulinism, we hypothesized that potential mate...

Background: Puberty is reported to be impaired in children with Sickle cell Anemia (SCA). Studies about this topic are rare in Sub-Saharan regionObjective and hypotheses: Assessment of pubertal development of children with SCA compared to healthy children in Mother and Child Center, CHANTAL BIYA Foundation.Method: We matched a group of 64 children with SCA (26 males, 38 females) with 94 healthy controls aged of 8–17 years old....

Background: The surgical reconstruction of hypospadias is usually performed during the first 2 years of life but little objective data is available to determine its optimal timing. Whereas the no-early surgery option in DSD management is rising, the results of late genital surgery should be evaluated before advocating this attitude.Objective and hypotheses: To evaluate the outcome of hypospadias surgery according to age and to determine if some complicat...

Objectives: Preterm infants often present CH characterized by delayed TSH elevation. We describe the clinical and biochemical features and the evolution of CH in preterm infants with delayed TSH elevation, detected by the second screening for CH.Material and Methods: All preterm infants born between 2007 and 2014 negative to the first screening (b-TSH<10 mcU/ml) at 2–5 days of life and positive to the second screening at 12–33 days (b-TSH&#...

Background: A high risk of congenital hypothyroidism (CH) has been documented in multiple pregnancies. Over the years special screening procedures for preterm and twin babies (re-screening at 2–4 weeks of life) have been adopted by many screening laboratories worldwide. However, no extensive studies have been performed to verify how many co-twins with negative test at first screening (3–5 days of life) become positive at re-screening, and the utility of a long-term f...

Nearly 30% of children suffer a fracture during till the end of growth. Most of these fractures are accidental fractures and many are located at the forearm. Non accidental fractures can by caused due to an appropriate force (e.g. child abuse) or can be classified as pathological fractures which are often caused by benign tumours like bone cysts, non-ossifying fibroma or fibrous dysplasia. Most reasons for fractures can be detected by carefully recording the medical history of...

Introduction: Although there are several studies on the incidence of congenital hypothyroidism (CH), there are few data showing incidence and evolution of CH detected by the second newborn screening (NBS).Objectives: To assess the incidence of CH in Lombardia region and the percentage of patients identified by the 2ndNBS. To describe the clinical features and evolution of CH patients detected by the 2nd</...

Background: National and international guidelines recommend thyrotropin (TSH) determination as the most sensitive test for detecting primary congenital hypothyroidism (CH) in newborn screening programs. A strategy of a second screening at 2 weeks of age, or 2 weeks after the first screening was carried out, is also recommended in preterm, LBW and VLBW neonates, twins, neonates admitted in NICU, and babies with specimen collection within the first 24 hours of life [1–3]. H...

Background: Over the years special screening procedures for preterm and twin babies (re-screening at 2–4 weeks of life) have been adopted by many screening laboratories worldwide. However, no extensive studies have been performed to verify how many co-twins with negative test at first screening (3–5 days) become positive at re-screening, and the utility of a long-term follow-up also in co-twin with negative test at screening and re-screening.Ob...