Abstract and Introduction
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.
Primary pigmented nodular adrenal disease (PPNAD) is a rare disease accounting for <1% of ACTH-independent Cushing syndrome (CS). PPNAD is often diagnosed in late childhood or early adulthood. Typical histological findings include multiple cortical pigmented nodules <1 cm with normal or even reduced total adrenal volume that explains the lack of major alteration of the adrenal gland morphology on imaging. PPNAD can be either isolated or associated with Carney complex. Germline defects of regulatory subunit 1A of the protein kinase A (PRKAR1A) gene are detected in >60% of patients with PPNAD and/or Carney complex.
Unilateral adrenalectomy is very rarely performed for PPNAD.[3–7] We describe the case of monozygotic twins with CS due to PPNAD with longstanding symptoms remission of hypercortisolism after unilateral adrenalectomy. We also provide an updated literature review of PPNAD treatment options.
J Endo Soc. 2019;3(1):129-134. © 2019 Endocrine Society