RESUMO
INTRODUCTION: An early investigation and management op cryptorchidism are essential for the diagnosis of associated pathologies, because intra-abdominal testis are associated with infertility and neoplasic risk. The authors describe a case of late presentation of cryptorchidism associated with genetic disorder. CASE REPORT: Adolescent male with 17 years old, referred to Adolescent Clinic for short stature and bilateral cryptorchidism. Hypertension, short stature and bilateral cryptorchidism were detected in clinical evaluation. Bone age is coincident with chronological age and testosterone was slightly below normal values. The study of secondary hypertension was negative. He underwent bilateral orchidopexy, and histological analysis revealed severe bilateral testicular atrophy. The karyotype showed 45,X[15]/46,X,+mar.ish der(Y)(SRY+)[117] mosaicism. COMMENTS: With this case report the authors intend to enhance the need of early management of cryptorchidism and short stature, in order to improve the prognosis.
