1 research outputs found
GĂȘmeas idĂȘnticas discordantes para a doença de Cushing: relato de caso Identical twins discordant for Cushing's disease: case report
A doença de Cushing Ă© rara em crianças e sua ocorrĂȘncia em gĂȘmeos Ă© ainda mais rara. O presente estudo relata a ocorrĂȘncia de gĂȘmeas idĂȘnticas discordantes quanto Ă doença de Cushing. Uma das gĂȘmeas, desenvolveu sĂndrome de Cushing aos 10 anos de idade. Sua investigação demonstrou cortisol urinĂĄrio elevado, ACTH sĂ©rico elevado e testes de supressĂŁo com dexametasona compatĂveis com doença de Cushing. A RMN mostrou macroadenoma hipofisĂĄrio que foi operado por via transesfenoidal. O estudo imuno-histoquĂmico confirmou a presença de cĂ©lulas produtoras de ACTH. A paciente entrou em remissĂŁo clĂnica e laboratorial desde a cirurgia. ApĂłs o desaparecimento dos estigmas do Cushing, a paciente reiniciou ganho estatural, mas permanece menor que sua irmĂŁ gĂȘmea. Esta Ășltima permanece saudĂĄvel 4 anos apĂłs o inĂcio da doença de sua irmĂŁ. Este Ă© o terceiro caso do gĂȘnero relatado na literatura. Estes achados sugerem que fatores nĂŁo genĂ©ticos estĂŁo envolvidos na gĂȘnese da doença de Cushing.<br>Cushing's disease is rare in children and its ocurrence in identical twins is extremely rare. This paper reports on identical twins discordant for Cushing's disease. One of them first presented with a cushingoid phenotype by the age of 10. Her evaluation showed an increased urinary free-cortisol and serum ACTH. Her pattern in the dexametazone supression tests was compatible with Cushing's disease. MRI disclosed a pituitary macroadenoma which was removed by the transesphenoidal approach. Immunohistochemical studies of the tumor showed the presence of ACTH-producing cells. The patient went into clinical and laboratorial remission after surgery. She re-started to grow after the disappearance of the Cushing's phenotype but she is still shorter than her healthy sister. The latter remains disease-free 4 years after her sister's diagnosis. This represents the third such case reported in the literature. Our findings suggest that acquired factors may be responsible for the genesis of Cushing's disease