title: Leydig cell tumour in a 46,XX child with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
abstract: A 10-year-old male was referred to our institution due to short stature and bilateral cryptorchidism and reported pubic hair development and acne since the age of 4 years. Laboratory and molecular genetic tests indicated congenital adrenal hyperplasia due to 21-hydroxylase deficiency. After treatment with prednisone, adrenal hormones normalised but testosterone remained elevated. Magnetic resonance imaging of the abdomen due to cryptorchidism revealed uterus and adnexal attachments, a prostate and poorly defined nodules on the iliac chains. Upon exploratory laparotomy, a hysterectomy, bilateral oophorectomy and resection of a peri-adnexal nodular lesion on the patient's right side were performed. Histopathology of the nodule mass was compatible with a Leydig cell tumour with a low proliferation rate according to Ki67.
authors: Department of Endocrinology, Clementino Fraga Filho University Hospital, Federal University of Rio de Janeiro, Rio de Janeiro, Brazil.
authors: Ana Paula Pires
authors: AP
authors: Lázaro
authors: Adriano Machado
authors: AM
authors: de Lacerda
authors: Juraci
authors: J
authors: Ghiaroni
authors: Luiz Carlos Duarte
authors: LC
authors: de Miranda
authors: Ana Paula Aguiar
authors: AP
authors: Vidal
authors: Paulo Ferrez
authors: PF
authors: Collett-Solberg
authors: Débora de Paula
authors: Dde P
authors: Michelatto
authors: Maricilda Palandi
authors: MP
authors: Mello
authors: Marilia Martins
authors: MM
authors: Guimarães
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis* / Q000601:surgery; D002648:Child; D003456:Cryptorchidism / Q000175:diagnosis; D005260:Female; D006801:Humans; D007984:Leydig Cell Tumor / Q000175:diagnosis* / Q000601:surgery; D008297:Male; D013255:Steroid 21-Hydroxylase / Q000235:genetics; D013739:Testosterone / Q000097:blood
chemical_list: D013739:Testosterone; D013255:Steroid 21-Hydroxylase