ESPE Abstracts

Introduction: In children with classical congenital adrenal hyperplasia(CCAH) linear growth allows monitoring metabolic control. Precocious puberty could compromise their growth. There are few studies in patients with CCAH diagnosed by neonatal screening(NS) about this subject.Aims: To analyze linear growth and precocious puberty in children with CCAH detected by NS.Method: Thirty-...

Introduction: Lipodystrophy syndromes are rare heterogeneous disorders characterized by deficiency of adipose tissue, usually a decrease in leptin levels and, frequently, severe metabolic abnormalities including diabetes and dyslipidemia. Congenital Generalized Lipodystrophy is a rare autosomal recessive genetic desease that presents early, at birth or just after. The estimated prevalence ranges from 1 in a millon to 1 in 10 millon individual...

Background: Newborn (NB) screening programs show a wide variation in congenital hypothyroidism (CH) incidence along the years.Objective and hypotheses: To describe CH incidence, etiology, associated malformations and Down Syndrome (DS) in children detected by our NB Screening Program. To search differences between permanent CH (PCH) and transient forms (TCH).Method: We analyzed NB with positive screening results referred between A...