ESPE Abstracts

Background: The aim of therapy in patients with congenital adrenal hyperplasia (CAH) is to use glucocorticoid doses as low as possible to achieve adrenal suppression. Both chronically increased androgen secretion and increased glucocorticoid exposure may adversely affect adult height and in some patients this therapeutic balance is difficult to achieve. In these particular cases aromatase inhibitors (AI) could be indicated with de aim to reduce glucocorticoid doses avoiding th...

Background: Hypocalcemia is a common metabolic disorder in the neonatal period and may involve life-threatening situations. The aim is to analyze the main causes of hypocalcemia and its management.Objective and hypotheses: The aim is to analyze the main causes of hypocalcemia and its management.Method: Retrospective descriptive study by reviewing reports of 75 patients diagnosed of neonatal hypocalcemia (total Ca <7.6 mg/dl and...

Introduction: Pilocytic astrocytoma is the most common type of CNS astrocytoma in children. Clinical manifestations depend on its location and size and initial symptoms are usually related to neurological deficits or signs and symptoms of intracranial hypertension. Involvement of the hypothalamic area, pituitary infundibulum and leptomeningeal spread are exceptional. The case of a patient with central precocious puberty in whom the initial neuroimaging study oriented the diagn...

Background: Vitamin D is an essential hormone in the homeostasis of calcium. Its main source is sun exposure. Changes in lifestyle and migratory movements have favored the reappearance of vitamin deficiency in our country.Method: We present three cases of newborn with hypocalcemic seizures, secondary to maternal vitamin D deficiency. Mother’s origin was North Africa.Results: Case 1: 7 days old male brought for several episodes...

Background: The 12q14.3q15 microdeletion syndrome is a rare entity of which only 16 new cases have been described to date. The syndrome consists of the association of severe pre- and postnatal growth retardation, proportional short stature, psychomotor retardation and osteopoikilosis. The phenotypic appearance of these patients poses a differential diagnosis with Silver-Russell syndrome, among other entities.Clinical description: A 10-month-old boy was r...

Background: Preterm newborns due to their immaturity, a higher incidence of mortality and increased susceptibility to iodine, are at risk of decreased thyroid function. Low levels of thyroid hormones during a critical period for the development of the central nervous system may negatively affect their psychomotor development. Screening for congenital hypothyroidism with capillary TSH is invalid for preterm babies and would require an specific thyroid function control.<p cl...

Background: Gene SHOX haploinsufficiency due to deletions or mutations in heterozygosis causes a wide spectrum of phenotypes ranging from very severe disharmonic short stature (S. Léri-Weil, S. Turner) to very mild forms with the appearance of idiopathic short stature (IST) of difficult clinical recognition. Auxological study directed at evaluating body disproportions such as the sitting height/height (SH/H) ratio in patients with IST has been postulated as usefu...

Background: Hypochondroplasia is an osteochondrodysplasia inherited in an autosomal dominant pattern that results in a disproportionately short stature, characteristic facial features and skeletal alterations such as lordosis and genu valgum. Haploinsufficiency of the fibroblast growth factor receptor 3 gene (FGFR3) is responsible for 50–70% of the cases, but a negative result doesn’t rule it out.Case presentation: We report a...

Introduction: Continuous-glucose monitoring (CGM) is becoming a useful tool to evaluate glucose profiles in real-life conditions and to detect glucose abnormalities undetected by OGTT in CF patients.Objectives: • Evaluation of OGTT and CGM results longitudinally • Evaluation of BMI z-score and %FEV1 changes in relation to OGTT and CGM results. • Analysis of 6 proposed criteria to classify glucose abnormali...

Introduction: Triple CFTR modulator therapy has been shown to improve lung function and quality of life in patients with at least one F508del mutation in the CFTR gen. However, effects on glucose metabolism are not yet well defined. This paper aims to describe the effects of this treatment on glucose metabolism in CF patients.Methodology: Ambispective study.Inclusion criteria: pati...