ESPE Abstracts

Background: Congenital hypothyroidism (CH) has a high incidence, with a local increase in our screening relieves in the last years.Objective and hypotheses: An accurate follow up and an appropriate treatment guarantee an adequate neurological and auxological development.Method: We describe the personal report of 74 children (27 males and 43 females) with CH, diagnosed by neonatal screening and followed for 8.5±5.3 years.<p...

Background: Primary Addison’s disease (AD) is a rare endocrine condition, with reduced or absent secretion of adrenal hormones. Steroid replacement therapy normalizes endocrine assess and the quality of life. More than a half of patients display additional autoimmune conditions, which represent a considerable clinical concern.Objective and hypotheses: Antiparietal cells antibodies (APC-Ab) are commonly found in patients with autoimmune Addison’...

Background: Arnold-Chiari malformations (CM), types I-IV, refer to a spectrum of congenital hindbrain maldevelopments characterized by downward herniation of the cerebellar tonsils. CM-I is defined as tonsillar herniation of 3–5 mm below the foramen magnum and is the most common and the least severe of the spectrum.Objective and hypotheses: Children with CM-I usually are asymptomatic and often diagnosed in adulthood, therefore early presentation of ...

Background: The cardinal feature of the resistance to thyroid hormone (RTH) is reduced responsiveness of target tissues to thyroid hormone action caused by thyroid hormone receptor β gene (THRB) mutations impairing hormone binding in the majority (90%) of cases. It results in elevated serum levels of free thyroxine (FT4) and triiodothyronine (FT3) associated with unsuppressed thyroid SH.Objective and hypotheses: The ai...

Background: Hashimoto thyroiditis (HT) is the most frequent acquired thyroid disease in childhood and adolescence. However it can evolve silently also for a long period, without signs and/or symptoms evocative of the diagnosis.Objective and hypotheses: A late diagnosis can reduce growth velocity, increase weight and particularly BMI, with an increased risk of obesity in pubertal age.Method: We analyzed 39 patients (age: 11.3±3...

Background: A secular trend for the timing of menarche has been described in women, but for men, studies of pubertal timing are scarce. Both negative and positive associations between childhood obesity and pubertal timing in men have been reported. In Sweden, Child Health Care (CHC) centers follow all children regarding growth and general health. We have collected detailed CHC growth data (height and weight) from centrally archived records for all children born 1946 or later i...

Background: Isolated GH deficiency type II (IGHD II), the autosomal-dominant form of GH deficiency, is mainly caused by specific splicing mutations in the human GH (hGH) gene (GH-1). These mutations, occurring in and around exon 3, cause complete exon 3 skipping and produce a dominant-negative 17.5-kDa GH isoform that reduces the accumulation and secretion of wt-GH.Objective and hypotheses: As the severity of IGHD II inversely correlate...

Background: Congenital multiple pituitary hormone deficiency (MPHD) arises from defects in pituitary development and is sometimes associated with craniofacial abnormalities. Mutations in the transcription factor PROP1 are the most common known genetic cause of the disorder. In this case the course of disease is progressive, and can lead to life threatening adrenal insufficiency.Objective and hypotheses: Our objective is to understand the role of PROP1 in...

Background: As well as acting on longitudinal growth, growth hormone (GH) also has a number of metabolic effects, and is involved in the regulation, functioning and development of the immune system.Aims: To evaluate the immune profile in GH-deficient children after 6 months’ GH treatment.Method: A total of 44 children were examined before and after a six-month course of treatment with rhGH (0.03 mg/Kg per day). Levels of IGF1 ...

Background: Chronic diseases are the main causes of bone mass reduction in childhood and adolescence. Different aspects related to the process of bone acquisition and maintenance may be affected. Studies had point out the presence of bone mass reduction in children and adolescents with HIV infection with association to antiretroviral use, chronological age (CA), weight and serum CD4 T-cell counts. However, others do not.Objective: To evaluate bone minera...