ESPE Abstracts

(DPG)-plus syndrome is a rare craniofacial anomaly. It usually occurs in combination with other craniofacial defects. The etiology of this condition remains unknown. Survivors to late childhood have either preserved pituitary function or central precious puberty. Idiopathic infantile hypercalcemia (IHH) is another rare condition that predominantly affects infants. The co-occurrence of (DPG)-plus syndrome and IIH has not been reported previously. We will also present a case rep...

Introduction: 17q12 deletion syndrome is associated with an enlarging phenotype, the most frequent clinical findings being renal and genitourinary malformations, diabetes mellitus (β-cell developmental defect) and exocrine pancreas deficiency, variable cognitive impairment with dysmorphic features.Diabetes, known as MODY 5 (maturity-onset diabetes of the young), is an autosomal dominant monogenic type and the most commonly identi...

Introduction: Legg-Calvé-Perthes disease is an idiopathic osteonecrosis of the femoral head with uncoupling of bone resorption and formation, presenting as unilateral involvement in most children. Symmetric involvement suggests other conditions: skeletal dysplasia, osteonecrotic entities including hypothyroidism, Gaucher's disease, glycogen storage defects, sickle cell anemia.Case presentation: We present a case...

Background: Pseudohypoaldosteronism (PHA) is a rare entity inducing, in case of late or missed diagnosis, life-threatening clinical and biochemical complications.Objective and hypotheses: To report a case of 4-week-old boy with failure to thrive, dehydration, hyponatremia, hyperkalemia, metabolic acidosis. The first diagnosis was congenital adrenal hyperplasia, but in the evolution, the right diagnosis of PHA was retained.Method: T...

Background: Noonan syndrome (NS) is an autosomal-dominant inherited condition defined clinically by a short stature, specific phenotype, congenital heart disease, bleeding and hematologic abnormalities (particularly leukaemia). There is also a genetic heterogeneity, with all mutations involved in the RAS/mitogen-activated protein (MAP) kinase pathway and with PTPN11 gene mutations counting for almost 50% of patients.Objective and hypotheses: To describe ...

Background: Precocious puberty, pubertal development in girls before 8 years, has considerable biological, psychosocial, and long-term health implications. It is classically ascribed to the premature activation of the hypothalamic-pituitary–gonadal axis, and hence an LH response >5 U/l in the LHRH test. Whilst this group of patients is well understood, there is a paucity of literature characterising patients who show pubertal development not driven by LH, atypical pre...

Background: Iodine deficiency is the main cause of endemic goitre. A total of 29.8% of the world’s school-age children insufficient iodine intake. A population is deemed iodine-sufficient when median iodine levels are over 100 μg/l; measured iodine deficiency serves as a diagnostic criterion for determining the extent to which goitre is endemic, and also as an indicator of the gradual eradication of iodine-deficiency disorders.Patients, materia...

Background: A second screening for congenital hypothyroidism between the 2nd and the 4th weeks of life in preterm infants is recommended in order to avoid false negative on the first screening. The incidence of transient hypothyroidism in this population is high.Objective and hypotheses: i) Analyse the utility of the second screening in our population of preterm infants. ii) Follow-up of those preterm infants with hypothyroidism.Me...

Background: Mexico is globally ranked as one of the countries with the highest incidence of congenital hypothyroidism. There are few studies that have searched for germinal mutations of candidate genes, such as NKX2-1, in patients with congenital hypothyroidism.Objective and hypotheses: i) To search for NKX2-1 mutations in blood samples of patients with confirmatory diagnosis of congenital hypothyroidism (CH) due to thyroid dysgenesis (...

Background: There is increasing evidence that body composition in early life has both immediate and long-term influence on health. Air-displacement plethysmography creates the opportunity to study the effect of prenatal and early postnatal factors on neonatal body composition. Prenatal maternal factors, such as pre-pregnancy BMI and gestational weight gain, might also influence neonatal body composition.Objective and Hypotheses: We hypothesized that newb...