Searchable abstracts of presentations at key conferences in endocrinology

ea0049ep1025 | Pituitary - Clinical | ECE2017

A novel DICER1 gene mutation in a 10-month-old boy presenting with ACTH-secreting pituitary blastoma and lung cystic dysplasia

Kalinin Alexey , Strebkova Natalia , Tiulpakov Anatoly , Vasiliev Eugene , Petrov Vasily , Kolodkina Anna , Kareva Maria , Mazerkina Nadezhda , Peterkova Valentina

Hypercortisolism due to Cushing disease is an extremely rare condition in children under one year of age. We present a case of a 10-month-old boy with lung cystic dysplasia and pituitary blastoma (ACTH-secreting). The disease manifested with symptoms of hydrothorax due to cystic dysplasia of the right lung’s upper lobe. Surgical resection of the affected area has been carried out. Symptoms of endogenous hypercortisolism appeared soon after lung surgery. Cushing disease du...