ESPE Abstracts

Objective: To evaluate the pancreatic reserve and metabolic control in our patient diagnosed of type 1 diabetes over the last 20 years.Method: Retrospective cohort study of all patients <15 years, diagnosed in our community between 01/01/1995 and 31/12/2014. Variables: gender, age at diabetes debut, age at study, c-peptide after stimulation with glucagon at debut and 1 month after, HbA1c at debut, 1 month, 1 year, 2 years, 5 and 10 years of debut. Co...

Background: SHORT syndrome is an autosomal dominant genetic multisystem disorder determined by PIK3R1 gene mutations, which normally plays a role in cell signalling. SHORT is an acronym for short stature, hyperextensibility of joints and/or hernia, ocular depression, Rieger anomaly and teething delay. It is a rare condition; its prevalence is unknown with only few affected individuals and families reported worldwide.Case report: We report a case of 4 yea...

Background: A high risk of congenital hypothyroidism (CH) has been documented in multiple pregnancies. Over the years special screening procedures for preterm and twin babies (re-screening at 2–4 weeks of life) have been adopted by many screening laboratories worldwide. However, no extensive studies have been performed to verify how many co-twins with negative test at first screening (3–5 days of life) become positive at re-screening, and the utility of a long-term f...

Background: Adrenoleukodystrophy (ALD) is an X-linked disease characterized by impaired β-oxidation of very long-chain fatty acids (VLCFA) and in the most severe cases by inflammatory demyelination in the brain, adrenocortical insufficiency (AI), and death. Seven phenotypes were described, with a higher prevalence of the cerebral forms.Case report: We report two cases of ALD with different evolution, in February 2014. First case, an 11 years old boy...

Background: Mucolipidoses II/III (ML) are rare autosomal recessive lysosomal storage disorders (incidence: 1/325 000 live births). They have overlapping clinical phenotypes with mucopolysaccharidosis disorders and include growth retardation, facial dysmorphism, skeletal abnormalities, respiratory and heart diseases, hepatosplenomegaly and abdominal hernias. There is no specific treatment and the management has been limited to supportive care.Case present...

Background: More than two thirds of teenagers with childhood-onset GH deficiency (CO-GHD) documented normal GH response when retested at final height.Objective and hypotheses: To identify potential predictors for persistent GHD after reaching final height under rhGH with a particular accent on children with isolated GHD (IGHD).Method: Prospective study: reevaluation CO-GHD in the transition period; cohort of 27 CO-GHD patient who r...

Objective: to assess olfactory bulbs sizes and define the most common molecular defects in adolescents with congenital isolated hypogonadotropic hypogonadism.Materials and Methods: Single-centre comparative study. 36 patients were included. The main group consisted of 21 patients with mean age of 15.9 years (17 boys, 4 girls) with congenital isolated hypogonadotropic hypogonadism (IHH): 13 patients with Kallmann syndrome...

Background: Administration of recombinant GH (rhGH) to GH-deficient children has yielded conflicting results concerning its impact on thyroid function. Data about patients developing subclinical hypothyroidism are scanty, but it is thought to be associated with impairment of metabolic profile and lower growth response.Objective: To investigate the frequency of SH in children with pituitary dwarfism treated with rhGH, as well as its influence on rhGH ther...

Vitamin D dependent rickets type 1A (VDDR-IA) is inherited in an autosomal recessive pattern and caused by mutations in CYP27B1 gene encoding enzyme 1α-hydroxylase. Deficiency of 1α-hydroxylase leads to decrease of 1,25(OH)2 vitamin D production. VDDR-IA usually manifests clinically during the 1st year of life. Clinical features of VDDR- IA include progressive growth retardation, hypotonia, rachitic skeletal deformities, hypocalcemic seizures in early infancy. Serum ...

Background: Small for gestational age (SGA) birth size has been associated with various metabolic, hormonal and reproductive problems in later life.Objective and hypotheses: We aimed to compare differences in sex hormones, uterine and ovarian sizes in SGA and appropriate for gestational age (AGA) adolescent girls.Method: 23 SGA and 47 AGA pubertal 11–14 years old girls (median age 13.2±1.94 years, median pubertal stage 4&...