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...

hrp0094p2-75 | 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 ...