P-02 GIANT ADRENAL AND TESTICULAR MASS IN A PATIENT WITH CONGENITAL ADRENAL HYPERPLASIA
Authors: Piskinpasa Hamide , Guzey Deniz , Sahbaz Nuri Alper , Kimyon Ozge Sahin , Yegul Duygu , Ci̇ftci Sema 
Published: January 2025

Introduction

Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder characterized by impaired adrenal steroid hormone synthesis. 21-hydroxylase deficiency (21OHD) is the most common form of CAH. There are two main forms of 21OHD; salt-wasting and simple virilising. The simple virilizing form is diagnosed early in females since it has severe effects on female sexual development; however, in males, it is frequently late-diagnosed because hyperandrogenism could be overlooked. Therefore, in male patients with late diagnosis, elevated ACTH levels result in hyperplasia of ACTH-sensitive tissues in the testes, adrenal, and other sites. It is thought that adrenal rest tissues in testicular parenchyma are stimulated by their ACTH receptors and produce steroid hormones. Therefore, testicular adrenal rest tumors (TARTs) and adrenal masses occur in male patients with CAH. We present a male patient with CAH who developed complications as a consequence of a late diagnosis.

Clinical Case

A 35-year-old male patient from the andrology clinic was referred to our endocrinology department for incidentally detected bilateral adrenal masses. The patient had a history of precocious puberty with short stature as per his peers. Azoospermia and bilateral testicular masses were identified in the patient who was admitted to the andrology clinic with complaints of infertility. In the physical examination at the endocrinology department, the body height was 147 cm. He had generalized hyperpigmentation that was more marked on gingival mucosa and frictional sites. His blood pressure and other systems on the examination were normal. The patients’ baseline laboratory tests are given in Table 1. In hormonal assessment, cortisol levels at baseline and after the cosyntropin stimulation test were low, and 17-hydroxyprogesterone level at baseline was high. As a result of clinic and laboratory assessment, the patient was diagnosed with simple virilising CAH due to 21OHD. Then, prednisolone replacement was initiated.

CT imaging revealed bilateral adrenal masses with 76*43 mm on the right and 225x135 mm on the left (Figure 1). Laparoscopic right adrenalectomy was applied, and pathology was consistent with myelolipoma. In the testicular USG evaluation, several solid lesions with irregular borders and heterogeneous echo were observed in both testicles, the largest of which was 34x16 mm on the left and 25x16 mm on the right. Bilateral adrenal and testicular masses in our patient were thought to be related to CAH.

In conclusion, although newly diagnosed adult male classical CAH cases are rare, our patient was a late-diagnosed male CAH in which chronic complications developed. Early glucocorticoid treatment in CAH could protect both fertility and the adrenal gland. Therefore, the diagnosis of CAH at an early age is important. CAH should be considered in patients presenting with bilateral adrenal and testicular masses, as in our patient.  Table 1:Laboratory results of the patientACTH; Adrenocorticotropic hormone, DHEA-S; Dehydroepiandrosterone sulphate; FSH; Follicle-stimulating hormone; LH; Luteinizing hormone; TSH; Thyroid-stimulating hormone