hrp0092p2-83 | Diabetes and Insulin | ESPE2019

17q12 Deletion and a Family History of Diabetes

Kasongo Laura , Nicolescu Ramona

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...

hrp0092p3-257 | Thyroid | ESPE2019

Bilateral Hip Pain as First Symptomatic Expression of Severe Primary Hypothyroidism

Kasongo Laura , Nicolescu Ramona

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...

hrp0086p2-p583 | Perinatal Endocrinology P2 | ESPE2016

Neonatal Failure to Thrive and Dyselectrolytemia – Not Always a Congenital Adrenal Hyperplasia

Kasongo Laura , Nicolescu Ramona

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...

hrp0086p1-p822 | Syndromes: Mechanisms and Management P1 | ESPE2016

Neonatal Haematological Complication in Noonan Syndrome – Future Concerns about Growth Hormone Therapy

Kasongo Laura , Nicolescu Ramona

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 ...

hrp0092p1-70 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) | ESPE2019

Congenital Hypothyroidism – Precise Diagnosis with Dual Imaging

Kasongo Laura , Rausin Leon , Nicolescu Ramona

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 ...

hrp0092p3-194 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Coincidental Central Precocious Puberty and Wilms Tumor

Kasongo Laura , Forget Patricia , Nicolescu Ramona

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...