(247) ADULT DIAGNOSED CONGENITAL ADRENAL HYPERPLASIA WITH AZOOSPERMIA
Authors: Passarelli R , Velez D 
Published: December 2024

Introduction

Congenital adrenal hyperplasia (CAH) is typically diagnosed in the neonatal period, however nonclassical cases can present in adolescents or young adults. It is established that a common cause of infertility in CAH patients is testicular adrenal rest tumors (TART) for which close follow up is recommended. When a TART is found, cryopreservation should be initiated as soon as possible. High dose glucocorticoids can aid in delaying tumor growth and testicular fibrosis contributing to infertility, however in a longstanding TART efficacy is less and side effects may outweigh the benefits of treatment. There is little literature as to optimal outcomes for the already azoospermic adult with erectile dysfunction and large TARTs and previously undiagnosed CAH without evidence of healthy testicular parenchyma.

Objective

To describe a case of adult-diagnosed congenital adrenal hyperplasia in a patient presenting with bilateral testicular masses, minimal testicular parenchyma, and azoospermia.

Methods

The patient is a 21-year old male who was initially referred to urology after ultrasound for testicular pain revealed bilateral testicular masses. The patient had no documented prior past medical history, however per parents he had required hormonal therapy while living in Honduras until age 8 to “stunt growth.” They did not know the name of the medication.

Results

Patient was referred for sperm cryopreservation in setting of bilateral testicular masses nearly completely replacing parenchyma bilaterally, at which time fertility labs revealed follicle stimulating hormone (FSH) &lt;0.3, luteinizing hormone (LH) &lt;0.02, and total testosterone &lt;350. Semen analysis (SA) showed a volume of 1.2 mL, sperm density 0 M/mL, and positive fructose, consistent with azoospermia. Physical exam consisted of firm testicles bilaterally, with the right measuring 4.5 cm in the longitudinal axis and the left 3.3 cm. He reported no spontaneous erections or sexual activity, although was able to provide the SA through masturbation. Further laboratory testing revealed progesterone 17-OH LCMS to be &gt;7,000 and positive CYP21A2 mutations, confirming the congenital adrenal hyperplasia (CAH) diagnosis. The bilateral testicular masses were thought to be most likely TARTs. He was referred to endocrinology and started on hydrocortisone 15 mg AM and dexamethasone 0.5 mg PM. One month later, firmness in testicles was noted to have decreased on physical examination and the patient’s FSH increased to 3.04, LH to 0.37, total testosterone to 326, and 17-OHP 47. At the time of this submission, the patient is pending repeat imaging and SA 3 months from initiation of glucocorticoids.

Conclusions

We present a unique case of a young adult diagnosed CAH with concurrent bilateral TART with minimal healthy parenchyma in an azoospermic patient with erectile dysfunction. We present this case as an alternative diagnosis for the differential of male infertility, erectile dysfunction, and testicular masses, especially in a young adult. There is no standardized treatment for a patient in this situation, and it remains to be seen whether the patient will recover spermatogenesis with CAH treatment.

Disclosure

No.