hrp0086p2-p497 | Fat Metabolism and Obesity P2 | ESPE2016

Cardiometabolic Effect of Sugar-Sweetened Beverages Reduction in Obese Children

Galhardo Julia , Diamantino Catarina , Alonso Anabela , Lopes Lurdes

Background: The excessive consumption of sucrose, primarily used in sweetened beverages, has been considered an important inducer of cardiometabolic diseases. Besides the association between metabolic syndrome and fructose found in animal models, literature is lacking prospective studies in humans, especially in paediatric ages.Objective and hypotheses: We assessed the effect of sugar-sweetened beverages reduction on markers of metabolic syndrome in obes...

hrp0094p2-3 | Adrenals and HPA Axis | ESPE2021

Endocrine-disrupting chemicals: an often-forgotten etiology of endocrinological disturbances

Lemos Ana Pereira , Duarte Mariana , Galhardo Julia , Lopes Lurdes ,

Background: Endocrine disruptors (ED) are chemicals that can mimic hormones and interfere with their receptors, causing endocrinological abnormalities.Clinical report: We present the case of a previously healthy, melanodermic, two-year-old female, who had a three-month evolution of clitoromegaly and generalized hypertrichosis. Endocrine blood work showed suppressed serum androgens suggesting steroid exogenous contact. Karyotype, bone age...

hrp0094p2-41 | Adrenals and HPA Axis | ESPE2021

Corticotropin-independent Cushing’s Syndrome in toddlerhood: a challenging diagnosis and treatment

Simoes Joana , Crisostomo Mafalda , Costa Durval , Galhardo Julia , Lopes Lurdes ,

Background: Endogenous CushingÂ’s Syndrome (CS) is a rare disease in children, and corticotropin-independent forms are even scarcer. In childhood it carries a significant burden, resulting from both prolonged hypercortisolism long-term effects and treatment-associated morbidity.Case Report: A 23-month-old girl presented with irritability, central obesity with rapid weight gain and arrested linear growth, cushingoid facies with facial...

hrp0094p2-339 | Multisystem endocrine disorders | ESPE2021

Three generations of MEN-1: the importance of family screening

Duarte Mariana , Pereira Lemos Ana , Galhardo Julia , Lopes Lurdes ,

Background: Multiple Endocrine Neoplasia type 1 (MEN-1) is a rare and underdiagnosed syndrome caused by inactivating mutations of the tumor suppressor gene MEN-1 that predisposes to multiple tumors classically situated in the anterior Pituitary, Parathyroid, and Pancreas. The mutation is transmitted in an autosomal dominant way, and for this reason, the screening of all first-degree relatives is mandatory afte...

hrp0094p2-75 | Bone, growth plate and mineral metabolism | ESPE2021

Afebrile seizure in a toddler girl with alopecia: a case report

Crisostomo Mafalda , Simoes Joana , Canteiro Rodrigues Claudia , Galhardo Julia , Lopes Lurdes ,

Background: Calcium homeostasis is primarily regulated by vitamin D. In the absence of the active hormone or a functional receptor, bones are inadequately mineralized, leading to the development of rickets. Vitamin D-dependent rickets type 2 (VDDR2) is a rare autosomal recessive disorder caused by mutations in the vitamin D receptor (VDR) gene.Case Report: A 12-months-old girl was transported to the local hospital ED with a three-minute ...