ESPE Abstracts

Background: Cantù syndrome is a rare disorder characterized by congenital hypertrichosis, neonatal macrosomia, a distinct osteochondrodysplasia, and cardiomegaly. Other findings described are vascular abnormalities, pulmonary hypertension, generalized edema, mild learning disability and behavioral problems. Cantù syndrome is related to an heterozygous pathogenic variant in ABCC9 or KCNJ8, which can be inherited in an autosominal dominant manner or d...

Background: Congenital hyperinsulinism (CHI) is a chronic and complex rare endocrinopathy with dysregulated insulin secretion causing severe and recurrent hypoglycemia resulting in adverse neurologic and developmental sequelae in children. Current treatment options are limited and often inadequate to treat CHI. Dasiglucagon (DASI), a glucagon analog administered by subcutaneous continuous infusion, has demonstrated reduction in glucose infusion rate (GIR) in P...

Human growth is a complex trait. A considerable number of gene defects have been shown to cause short stature, but there are only few examples of genetic causes of non-syndromic tall stature. Besides rare variants with large effects and common risk alleles with small effect size, oligogenic effects may contribute to this phenotype. Exome sequencing was carried out in a tall male (height 3.5 SDS) and his parents. Filtered damaging variants with high CADD scores were validated b...

Background: We recently reported three children with severe isolated growth hormone (GH) deficiency and pituitary hypoplasia due to biallelic mutations in the RNPC3 gene, which codes for a minor spliceosome protein required for U11/U12 small nuclear ribonucleoprotein formation and splicing of U12-type introns. Although it is clear that these patients are GH deficient, the underlying mechanism for this deficit is not totally understood.Objective:...

Objective: To analyze the efficacy of GH treatment in pediatric patients in a hospital from 1982 to 2013.Material and methods: Retrospective study whose population are patients who have been or are being treated with GH in a Tertiary Hospital. The following data were collected: indication of treatment, years of treatment, genetic target height, height at start and the end of treatment, with their corresponding S.D.. A simple linear regress...

Background: Pycnodysostosis is a very rare autosomal recessive skeletal dysplasia caused by cathepsin K deficiency. It is characterized by extreme short stature resulting in an adult height in males typically <150 cm and in females <134 cm. Bone-fragility and frequent fractures are present. There are few case-reports on the effects of GH treatment.Objective: To evaluate the effect and safety of GH in 6 patients wit...

Background: DLK1 (PREF1) is a key inhibitor of adipogenesis and adipocyte differentiation. Adipose tissue expansion depends on adequate adipocyte differentiation. However, whether lower DLK1 expression facilitates adipose tissue expansion following fetal growth restriction is so far unknown.Objective and hypotheses: To study the expression of DLK1 in the adipose tissue of prenatally growth-restricted rats and its relat...

Background: There is growing evidence of a correlation between fat and bone metabolism at both the clinical and molecular levels, although the systemic regulators have not been clearly identified. The receptor activator of nuclear factor kB ligand (RANKL) and its soluble decoy receptor, osteoprotegerin (OPG), are involved in bone resorption and vascular calcification. OPG levels has been related with insulin resistance in adult obese subjects.Objective a...

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: Linear growth in patients with congenital hypothyroidism (CH) born in 1970s and 1980s is reported normal.Objective and hypotheses: To evaluate whether the earlier diagnosis and the higher L-T4 starting dose lead to an improvement in growth and pubertal outcome over the last two decades.Method: Two-hundred and fifteen patients with permanent CH born in 1980s and 1990s (age at diagnosis 25.1&#177...