hrp0082p2-d2-609 | Thyroid (1) | ESPE2014

Auxological Pattern, BMI and Endocrine Follow Up in Children with Congenital Hypothiroidism: the Data of the Pediatric Clinic of Palermo

Maggio Maria Cristina , Mineo Mariagrazia Irene , Maltese Marilena , Corsello Giovanni

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...

hrp0082p3-d2-835 | Growth (1) | ESPE2014

An Unusual Case of a Child with GH Deficiency and Arnold-Chiari Malformation Type I

Xatzipsalti Maria , Polychroni Ioulia , Vazeou Andriani , Stamogiannou Lela

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 ...

hrp0082p3-d1-978 | Thyroid | ESPE2014

Treatment the Resistance to Thyroid Hormones in Girl

Budzynska Elzbieta , Ben-Skowronek Iwona , Korobowicz Elzbieta , Klatka Maria

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...

hrp0082p3-d2-990 | Thyroid (1) | ESPE2014

Bmi and Auxological Follow Up in Children with Hashimoto Thyroiditis: Utility of a Phisical Activity Program

Corsello Giovanni , Maltese Marilena , Mineo Mariagrazia Irene , Maggio Maria Cristina

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...

hrp0082lbp-d3-1015 | (1) | ESPE2014

A Secular Trend for Pubertal Timing in Swedish Men Born 1946–1991: The BEST Cohort

Bygdell Maria , Vandenput Liesbeth , Ohlsson Claes , Kindblom Jenny M

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...

hrp0084fc4.4 | Growth | ESPE2015

Modulation of GH-1 Splicing as Potential Strategy to Rescue GH Deficiency Type II

Miletta Maria Consolata , Fluck Christa E , Mullis Primus-E

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...

hrp0084fc-lb-6 | Late Breaking Abstracts | ESPE2015

PROP1 Mutations Cause Hypopituitarism by Disrupting the Transition of Pituitary Stem Cells to Differentiation

Millan Maria Ines Perez , Mortensen Amanda , Brinkmeier Michelle , Camper Sally

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...

hrp0084p1-85 | Growth Hormone | ESPE2015

Effects of Growth Hormone Treatment on Immunity

Canete Ramon , Caballero Maria Dolores , Aguado Rocio , Santamaria Manuel

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 ...

hrp0084p2-208 | Bone | ESPE2015

Bone Mineral Density in Children and Adolescents with Vertical HIV Infection

Vargas Deisi Maria , Prust Daniela Oliveira , Galvao Jose Carlos

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...

hrp0084p2-501 | Perinatal | ESPE2015

Variation of Environmental Chemicals Measured in Serum During Pregnancy

Assens Maria , Frederiksen Hanne , Juul Anders , Main Katharina

Background: Significant changes in metabolism and water equilibrium are registered during pregnancy. However, very limited previous investigations have been carried out on variations of exposure levels and metabolism of non-persistent environmental chemicals during pregnancy.Objective and hypotheses: The objective of this longitudinal study is to describe variation in exposure of pregnant women to environmental chemicals. We hypothesise that variation in...