Leydig Cell Tumour in a 46,XX Child with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

Abstract

Case Report: 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.

Ectopic Prostate Tissue in the Uterine Cervix of a Female with Non-Classic Congenital Adrenal Hyperplasia—A Case Report

“…Anderson et al [ 1 ] found prostatic tissue in vaginal specimens of multiple patients, one of which likely presented with partial androgen insensitivity due to 46,XY DSD, another with ovotesticular disorder of differentiation and of patients with classic congenital adrenal hyperplasia (46,XX). In 46,XX patients with classic CAH and a male phenotype due to delayed diagnosis, fully developed prostate glands have also been reported [ 4 , 5 , 13 , 14 , 15 ]. Wesselius et al [ 3 ] even described a case of prostate cancer in such a patient, although to our knowledge, this is the only reported case of this kind.…”

“…Thus far, prostate tissue has almost exclusively been reported in patients with classic CAH, who—in periods of poor disease control—are exposed to substantially higher androgen concentrations [ 3 , 4 , 5 , 13 , 14 , 15 , 17 , 20 , 21 , 22 , 23 , 24 ], but not in non-classic CAH. In a study by Paulino Mda et al [ 20 ] prostatic tissue could be detected in five out of 32 girls with classic CAH through MRI, which indicates a prevalence of 15.6% in classic CAH.…”

Leydig Cell Tumor in a Patient with 46,XX Disorder of Sex Development (DSD), Ovotesticular: A Case Report and a Review of the Literature

“…Nongerm cell tumors in gonads of patients with DSD are very rare. There are single reports of Leydig cell tumors in 46,XX patients with androgen excess caused by adrenal hyperplasia [ 10 ] and 46,XX DSD, testicular [ 11 ].…”

Prostatic tissue in 46XX congenital adrenal hyperplasia: Case report and literature review

“…We strongly suggested the need for performing prostate‐specific antigen (PSA) dosage and prostate biopsy since prostate cancers were described in these patients, as well as the necessity to screen parents and his sisters for mutation detection 4,5 . Female patients with CAH having prostatic tissue found in the literature are described in Table 2 6‐17 . To the best of our knowledge, this is the 20th reported case.…”

“…4,5 Female patients with CAH having prostatic tissue found in the literature are described in Table 2. [6][7][8][9][10][11][12][13][14][15][16][17] To the best of our knowledge, this is the 20th reported case.…”