ESPE Abstracts

Background: An important issue in the management of congenital hypothyroidism (CH) is the best initial dose of levothyroxine (L-T4) in order to achieve optimal neurocognitive outcomes. Both European and American guidelines suggest an initial dose of 10–15 μg/kg per die but trials on long-term effects of different doses within this range are lacking.Objective and hypotheses: This was a multicenter randomized trial to ev...

Background: Human GH is a heterogeneous protein hormone consisting of several isoforms, the most abundant being 22 kDa- and 20 kDa-GH. The availability of analytical methods to measure these GH isoforms might represent a valuable diagnostic tool to investigate GH secretion in short stature.Objective and hypotheses: Aim of the present study was to measure circulating levels of 22 kDa- and 20 kDa-GH in children with different diagnosis of short stature suc...

Background: Patients with childhood-onset GH deficiency (GHD) are usually retested in late adolescence or young adulthood, after achievement of final height, to verify whether they need to continue GH treatment. Most of the patients found to have idiopathic GHD when tested as children have normal GH responses when retested in the early or late adolescence. Indeed, the 2007 Consensus guidelines for the diagnosis and treatment of GHD adults recommended that idiopathic GHD patien...

Background: The persistent Müllerian duct syndrome (PMDS) is a rare 46-XY disorder of sex development, characterized by the persistence of Müllerian derivatives (uterus, Fallopian tubes) in otherwise normally virilised males. The condition is transmitted as a recessive autosomal trait and is caused in most cases by a defect in either the anti-Müllerian hormone (AMH) or the AMH type-II receptor (AMHR-II) genes.Case report: We present a 9 ye...

Background: The correct diagnosis of growth hormone deficiency (GHD) and the definition of growth response in the management of growth hormone (GH)-treated children is controversial.Objective and hypotheses: To evaluate: i) short-term and long-term efficacy of GH treatment; ii) various criteria commonly used to define poor response to GH therapy and compare them in the same cohort of GHD patients.Method: Our study includes 94 child...

Background: Short stature may represent a significant psychosocial problem. The rationale for GH treatment has traditionally rested upon the clinical improvement in terms of growth and well-being. Great importance is also associated with the adherence to the therapy.Objective and hypotheses: We have investigated the benefits obtained by GH treatment, the factors that positively influence growth, the differences between ‘objective’ and ‘sub...

Background: Endocrine disruptors (ED) can alter endocrine function. ED have become a part of everyday life and are found among phytoestrogens, active ingredients in pharmaceuticals, and additives or contaminants in food, personal care products, cosmetics, plastics and textiles.Objective: To describe cases of children with signs of early puberty who are exposed to ED.Method: Observational study of patients affected of premature pube...

Introduction: Distal chromosome 15 duplication is a very rare genetic disease, first described in 1974 by Fujimoto et al. The symptoms and physical findings include prenatal and/or postnatal growth retardation, mental retardation, poor speaking abilities, asymmetrical dysmorphic facial features, malformations of the fingers and/or toes and sometimes heart conditions.Case report: We report a case of a 2 years 5 months old girl, born with SGA (uterine grow...

Background: Congenital hypothyroidism (CH) is a heterogeneous disorder. While the great majority of cases are considered sporadic, the use of next generation sequencing (NGS) may bring significant advances in elucidating the underlying molecular mechanisms.Case presentation: We selected a family with three children affected by CH with gland in situ and diagnosed at neonatal screening: the index patient, his sister and his brother. Data at diagno...

Background: Hoffmann syndrome is a specific and rare form of hypothyroid myopathy in adults characterized by presence of muscle stiffness, proximal weakness and pseudohypertrophy. When this occurs in a cretin child it is known as Kocher–Debré–Sémélaigne syndrome. Patients with more severe or longstanding untreated hypothyroidism are more likely to develop clinically significant muscle disease. Serum muscle enzyme levels as CK, myoglobin and lactate deh...