Unilateral Adrenalectomy Could Be a Valid Option for Primary Nodular Adrenal Disease: Evidence From Twins

Abstract

Primary pigmented nodular adrenal disease (PPNAD) accounts for <1% of ACTH-independent Cushing syndrome. We describe the case of twin female patients with PPNAD who both had sustainable disease control after unilateral adrenalectomy, which corroborates current evidence in favor of unilateral adrenalectomy for a subset of patients with PPNAD. Patient A presented with a 10-kg weight gain over the past year and facial plethora. Diagnostic evaluation revealed abolition of normal cortisol rhythm with suppressed ACTH levels, normal adrenal CT and MRI imaging and a slightly left-predominant adrenal uptake on 131I iodomethyl norcholesterol scintigraphy coupled with single-photon emission CT/CT. PPNAD was confirmed after genetic testing revealed a known pathogenic PRKA1A mutation (c.709 (-7-2) del6). At that time, her twin sister (patient B) was asymptomatic. Patient A underwent successful unilateral adrenalectomy and histology confirmed PPNAD. Two years after initial onset of symptoms in patient A, patient B was seen for the same subtle symptoms of progressive weight gain. Diagnostic test results were identical, revealing the same clinical features and mutational status as patient A. Patient B also underwent unilateral adrenalectomy with a favorable outcome. Follow-up 3 years after surgery for patient A and 18 months for patient B showed sustained disease control without recurrence and uncompromised quality of life, with no adrenal insufficiency having occurred. Unilateral adrenalectomy can be a successful therapeutic approach for patients with PPNAD with a mild phenotype without the risk and the inconvenience of subsequent adrenal insufficiency, which alters quality of life.

Cushing's syndrome: Treatment and new therapeutic approaches

“…As a general rule, BLA is the recommended surgical approach for PPNAD treatment in the case of the involvement of both adrenal glands. However, unilateral adrenalectomy can be a successful therapeutic approach for selected patients with PPNAD with a mild phenotype [58].…”

Carney Complex Complicated with Primary Pigmented Nodular Adrenocortical Disease without Cushing's Syndrome Recurrence for Five Years after Unilateral Adrenalectomy

“…According to previous reports and to the best of our knowledge, 26 cases of unilateral or partial adrenalectomy for PPNAD have been reported ( Table 4 ) ( 4 , 6 - 10 ). Although the postoperative follow-up period has varied and cases are thus not uniformly comparable, recurrence was observed in seven cases, and contralateral adrenalectomy was required in five cases.…”

“…However, there are only a few case reports in the literature of unilateral adrenalectomy for PPNAD ( 4 , 6 - 10 ). In particular, very few cases have been described with a detailed clinical postoperative course.…”

Bilateral Adrenal Hyperplasia: Pathogenesis and Treatment

“…Follow-up was limited to less than one year in two cases [125,126]. Finally, only 12 patients (48% of the patients in initial remission) did not present recurrence of CS after a follow-up between 16 to 113 months [127,128].…”