Bilateral testicular mass in a 21-year-old male with a history of congenital adrenal hyperplasia: A case report

Abstract

A 21-year-old man was referred because of bilateral testicular swelling from 8 months ago. He had a known history of congenital adrenal hyperplasia (21-hydroxylase deficiency) diagnosed in infancy, managed with glucocorticoid therapy since childhood. However, the patient had been non-adherent to medication for several years. The patient underwent surgery with an inguinal incision, and a biopsy from the mass was sent for frozen section. The frozen and permanent sections were consistent with “Testicular adrenal rest tumor (tumor of adrenogenital syndrome)

1 Introduction

Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders due to pathogenic variants in genes encoding enzymes and cofactors involved in adrenal steroidogenesis. . 21-hydroxylase deficiency (21-OHD) is the most common cause of adrenal hyperplasia (CAH). . This condition often results in ambiguous genitalia, early virilization, and infertility issues. In rare cases, CAH may predispose individuals to the development of testicular masses, often referred to as adrenal rest tumors, which arise due to ectopic adrenal tissue in the testes. .

2 Case presentation

A 21-year-old man was referred to the urology clinic with bilateral testicular swelling from 8 months ago. There was no history of trauma, fever, or recent illness. The patient reported no urinary or sexual dysfunction. He had a known history of congenital adrenal hyperplasia (21-hydroxylase deficiency) diagnosed in infancy, managed with glucocorticoid therapy since childhood. However, the patient had been non-adherent to medication for several years, citing concerns about long-term steroid use and side effects.

On examination, the patient appeared generally healthy but exhibited signs of virilization, including facial hair and increased muscle mass. Both testes were palpable and significantly enlarged, measuring approximately 4 cm bilaterally. The masses were firm, non-tender, and had no overlying skin changes. There were no palpable inguinal lymph nodes.

3 Laboratory finding

Serum testosterone: Elevated (consistent with hyperandrogenism).

Serum cortisol: Low (reflecting the underlying CAH and non-adherence to steroid therapy).

Serum adrenocorticotropic hormone (ACTH): Elevated (suggesting adrenal hyperactivity).

Serum tumor markers: Alpha-fetoprotein (AFP), beta-human chorionic gonadotropin (beta-hCG), and lactate dehydrogenase (LDH) were all within normal limits.

4 Imaging studies

Scrotal Ultrasound: Bilateral, well-circumscribed hypoechoic masses within the testes, without evidence of calcifications or necrosis (40 × 24 mm and a volume of 20 cc in the right testicle, and a mass with similar characteristics measuring 48 × 32 mm and a volume of 34 cc in the left testicle).

MRI (without contrast): The image shows a mass with lobular margins measuring 42 × 28 mm in the right testicle and another mass measuring 56 × 35 mm in the left testicle. Isointense on T1-weighted images and hypointense on T2-weighted images, relative to the normal parenchyma suggests an adrenal rest tumor ( figure-1 ).

5 Management

The patient was suspicious for testicular adrenal rest tumors (TART) secondary to poorly controlled congenital adrenal hyperplasia, but we cannot rule out seminoma; therefor, the patient was scheduled for surgery in order to rule out seminoma. The patient underwent surgery with an inguinal incision, and a biopsy from the mass was sent for frozen section. Macroscopic examination revealed two well defined non-capsulated ovoid nodules measuring 2×1.5 × 0.5cm and 2x1x0.4cm with creamy red smooth external surface and brown cut surface with some fine white fibrous bands ( Fig. 2 ).