ESPE Abstracts

Background: The phenotypic spectrum of short stature homeobox-containing gene deficiency disorders (SHOX-D) ranges from non-specific short stature to Leri-Weill dyschondrosteosis. Current guidelines support rhGH in SHOX-D children, but long-term data are still lacking. Moreover, no correlation has been established yet between the severity of phenotype, including the response to rhGH, and the underlying SHOX pathogenic variant.Aims: To ev...

Background: The replacement therapy with levo-thyroxine (LT4) in congenital hypothyroidism (CH) aims to ensure normal growth and neuropsychological development. Few data are available about the appropriate dose during childhood and early adolescence.Objective and hypotheses: i) To evaluate LT4/kg per day requirement from diagnosis until 12 years of age; ii) to assess any differences in relation to the different etiology of CH as concern...

Background: Vitamin D deficiency has a high prevalence in children. It is produced by the skin from exposure to sunlight but its synthesis is influenced by many external and internal factors.Objective and hypotheses: The study aims to evaluate vitamin D in children with different pathology and highlights the influencing factors of it.Method: We evaluate 25-hydroxyvitamin D levels in 84 patients, sex ratio 1.15:1, aged between 3 mon...

Emerging in childhood and becoming increasingly prevalent to affect 40-50% of adults with cystic fibrosis (CF), CF-related diabetes (CFRD) is a common co-morbidity with the potential to negatively impact nutritional status, pulmonary function, and survival. Stymying interventions to preserve beta-cell function, the mechanisms underlying the progressive insulin secretion defects responsible for CFRD are poorly delineated. This meet-the-professor session will use case-based pres...

Background: Main features of the autosomal dominant form of GH deficiency (IGHD II) include markedly reduced secretion of GH combined with low concentrations of IGF-I leading to short stature.Objective and hypotheses: We report on a girl referred for assessment of short stature (−4.6 SDS) at a chronological age of 7 yr 10 mo. The GH deficiency was confirmed by standard GH provocation tests, which revealed severely reduced GH and IGF-I concentration...

Silver-Russell syndrome (SRS) is an epigenetic disorder characterized by severe intrauterine and postnatal growth retardation and typical dysmorphic features. The most common genetic abnormalities are 11p15 ICR1 loss of methylation, (11p15 LOM) and maternal uniparental disomy of chromosome 7 (mUPD7). There is little information on cognitive development in SRS patients and no neuroradiological studies are available so far. Global developmental delay and requirement for speech t...

Background: Central precocious puberty (CPP) is defined as the secondary sexual characteristics onset before 8 years of age in females and before 9 in males, due to premature activation of the hypothalamic-pituitary-gonadal axis. The underlying cause remains idiopathic in the great majority; based on the 2009 Consensus, 2% to 7% of girls who have onset of CPP between the ages of 6 and 8 years have unsuspected pathology and only 1% have a tumor such...

We describe a female neonate born from consanguineous parents who presented at birth with respiratory distress and severe hypoglycemia. At six months of age, the child was admitted to the Intensive care Unit because of two critical episodes characterized by fever and loss of consciousness. Child condition were critical and suggestive of sepsis, but blood tests showed severe hypoglycemia (19 mg/dl), hyponatremia (Na 132 mmol/l), compensated metabolic acidosis and increased infl...

Background: The initial L-T4 dose currently recommended in the treatment of congenital hypothyroidism (CH) is 10–15 mcg/kg per day.Objective and hypotheses: We designed a multicenter randomized trial to evaluate the effects of different starting doses of L-T4 within the range 10–15 mcg/kg per day on neurocognitive development in children with CH.Method: Seventy-two children with CH diagnosed by neonatal screening were enr...

Background: Hashimoto’s thyroiditis (HT) is the commonest autoimmune disorder in Turner syndrome (TS). Although there are in the pediatric literature many studies on the relationships between TS and HT, only few of them have specifically investigated whether the association with TS might be able to significantly affect the evolution over time of thyroid function in children and adolescents with HT, by conditioning a different thyroid status prognosis.<p class="abstext...