Endocrine Abstracts

JOINT2466

Background: Adrenal ganglioneuroma is a rare, benign tumor originating from neural crest cells. It is usually asymptomatic and incidentally detected during imaging studies. The coexistence of adrenal ganglioneuroma with primary adrenal insufficiency (PAI) is exceptionally rare, with only one prior case reported in the literature. This case emphasizes the diagnostic challenges and management strategies in patients presenting with concurrent endocrine disorders.

Case Presentation: A 17-year-old male with a history of PAI and Hashimoto’s thyroiditis was referred to our Department during the transition from pediatric to adult endocrine care. At age 14, he presented with fatigue, malaise, nausea, and skin hyperpigmentation, leading to a diagnosis of PAI after confirmatory testing. Autoimmune adrenalitis was presumed based on the positive personal/family history of autoimmunity and he received hydrocortisone and levothyroxine replacement, without adrenal imaging. At the time of referral, the patient had normal physical, sexual (Tanner V) and cognitive development. However, also clinical signs of corticosteroid overreplacement, such as overweight (BMI = 31.7 kg/m²) and wide, purple abdominal striae were present, along with symptoms of postural hypotension and salt craving. Consequently, hydrocortisone dose was decreased, and fludrocortisone was initiated. Basal hormonal workup was consistent with PAI (low morning cortisol, elevated plasma ACTH and renin). Elevated 17-hydroxyprogesterone (17-OHPRG, 8.49 ng/ml) and negative 21-hydroxylase antibodies testing, prompted further investigation. Adrenal CT scan revealed atrophic adrenal glands, and a 5.5 cm heterogeneous lesion proximal to the left adrenal gland with high attenuation (HU>10). In MRI, the mass appeared slightly hypointense in T1 and hyperintense in T2-weighted images. Normal very long-chain fatty acid (VLCFA) levels excluded X-linked adrenoleukodystrophy. During ACTH stimulation testing, suboptimal cortisol response (8.41 mg/dl) and increased peak 17-OHPRG (11.2 ng/ml) levels were suggestive of congenital adrenal hyperplasia (CAH). However, family screening was negative and genetic screening is pending. The patient underwent laparoscopic left adrenalectomy. Histopathological and immunohistochemical analysis confirmed adrenal ganglioneuroma.

Conclusions: This case underscores the need for a multidisciplinary approach to adrenal masses in patients with autoimmune endocrinopathies. The coexistence of ganglioneuroma and PAI, although rare, necessitates histological confirmation for accurate diagnosis and individualized management, ultimately improving patient outcomes.