ESPE Abstracts

Background: Achondroplasia and hypochondroplasia are more frequent types of skeletal dysplasia. De novo mutations in the fibroblast growth factor receptor 3 (FGFR3) gene are the principal cause. More than 95% of the cases of achondroplasia result from a mutation G1138A (Gly380Arg). In hypochondroplasia we usually (50–70%) found the change C1620A y C1620G, N540K (Asn540Lys).Objective and hypotheses: We describe an skeletal dysplasia...

Background: Type 1 diabetes mellitus has three common presentations: Typical (hyperglycaemia with cardinal symptoms), ketoacidosis and asymptomatic hyperglycaemia.Case presentation: A 7.5-year-old girl with a history of bronchial asthma presented to the emergency department with acute-onset diabetic symptoms. The previous year she was admitted to the Paediatric Ward for a pneumonia complicated by pleural effusion. She then developed hyperglycemia (400 mg...

Background: Nutritional rickets (NR) is the most common growing bone disease, and vitamin D deficiency (VDD) may predispose to other diseases (diabetes mellitus, cancer, and multiple sclerosis). Maternal VDD and exclusive breastfeeding without supplementation are the most frecuent causes of NR in the neonate. VDD is still a problem in Europe. There are few reports of maternal hypovitaminosis D and rickets in bottle-fed infants during early infancy. We report a case of Nutritio...

Background: Marfan syndrome is an autosomal dominant genetic disorder with skeletal, cardiac, and ocular involvement. Mutations in the fibrillin-1 gene on chromosome 15 are responsible for the development of the syndrome.Objective: To present one case of neonatal Marfan syndrome.Case: The patient was a 1-day-old female neonate who was born at 36 weeks gestation via normal delivery. Her body weight was 2900 g and height 48 cm. Ultra...

Background: Monitoring of thyroid function in neonates born from mothers affected by autoinmune thyroid disease is not perfectly established. The influence of etiology of maternal disease, maternal thyroid peroxidase antibodies (TPOAb) and l-thyroxine therapy during pregnancy on neonatal thyroid function were also investigated.Method: 194 term neonates were tested for thyroid function by measurement of free thyroxine (FT4</s...

Background: Sotos syndrome is characterized by overgrowth. The four mayor criteria for diagnosis are: overgrowth (accelerated bone age), macrocephaly, characteristic facial features and developmental delay. They can also present escoliosis, heart or genitourinary disease, seizures, hypotonia, cerebral malformations, feeding difficulties, hearing loss and a greater risk of tumours.Case report: A 10 months old girl was referred for overgrowth. BW and BL wa...

Introduction: Childhood obesity means a Public Health problem. It is related to chronic diseases in adults, a decrease in quality of life, and an increase in social and sanitary costs. In Spain, the National Health Service (ENSE 2017) stood the prevalence of overweight in toddler between 2 to 7 years old, in 18,26% and obesity in 10,30%, no differences between sex. In 2015 the prevalence of overweight and obesity in childhood are 21, 3 % and 6, 2 &...

Introduction: Leydig cell tumors are rare (3% of testicular neoplasms). 80% of cases occurs in adult population, although a quarter is described in prepubertal patients older than four years. The clinic differs according to the patient's age. Activating mutations, acquired and limited to the tumor tissue, are described in exon 11 of the LH receptor gene. And in mixed Sertoli-Leydig tumors activating mutations of the Gs-alpha subunit of the stimulat...

Puberty is a crucial biological process normally occurring at a specific time during the lifespan, during which sexual and somatic maturation are completed, and reproductive capacity is reached. Pubertal timing is not only determined by genetics, but also by endogenous and environmental cues, including nutritional and metabolic signals. During the last decade, we have learned much regarding the essential roles of kisspeptins and the neuropeptide pathways that converge on these...

Background: Several studies have suggested that vitamin D supplementation in early childhood is successful in decreasing the risk of type 1 diabetes (T1D) through a complex immunomodulatory role. However, Intervening in disease once clinical symptoms have appeared and autoreactive immune responses are active might be more challenging. Controlled trials with vitamin D supplementation in recent-onset T1D have shown mixed results.Objective and hypotheses: T...