ESPE Abstracts

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 ...

Introduction: In pediatric age range pituitary hyperplasia (PH) defines a reversible enlargement due to increase in the number in one or more hormone-producing cell types. It can occur as a normal response to physiological stimulation (puberty, pregnancy) or as a pathological condition. PH secondary to primary hypothyroidism (PHT) is a common finding. Long-standing severe PHT induces PH via thyrotropin-releasing hormone (TRH).Cas...

Introduction: Prolactinomas represent 50% of all pediatric pituitary adenomas. Microadenomas (tumors with less than 40 mm in maximum diameter) and giant prolactinomas (more than 40 mm in maximum diameter and prolactin levels > 1000 μg/L) are more commonly found in boys. Giant prolactinomas are rare, but invasive, accounting for 1–5% of prolactin-secreting tumors. We hereby report a female patient with neuro-ophthalmic symptoms (headaches and left 3...

Introduction: Primary congenital hypothyroidism (PCH), defined as thyroid hormone deficiency, can be viewed as an anatomical, clinical, biochemical and radiological spectrum.Its etiology includes thyroid dysgenesis (85%) with defects in thyroid gland development and thyroid dyshormonogenesis (15%) with inborn error of thyroxine synthesis or release.There is growing evidence that precise characterization of ...

Introduction: Wilms tumor is the most frequent pediatric renal malignancy and its usual presentation is an abdominal mass or hematuria. Unusual presentations have also been reported, such as paraneoplastic syndromes (acquired von Willebrand disease, sudden death due to pulmonary embolism and Cushing syndrome). These conditions can precede, occur concomitantly or present in a later phase of tumor development. Precocious puberty, as paraneoplastic endocrine synd...

Introduction: Fanconi anemia (FA) is a hereditary genomic instability syndrome characterized by congenital abnormalities, bone marrow failure, and cancer predisposition. At the molecular level, FA is caused by pathogenic variants in the FA/BRCA DNA pathway, responsible for DNA repair. FA phenotype include heterogeneous physical abnormalities, with two main associations: VACTERL-H (vertebral abnormalities, anal atresia, <strong...