Journal of Shanghai Jiao Tong University (Medical Science) >

2025 , Vol. 45 >Issue 11: 1552 - 1558

DOI: https://doi.org/10.3969/j.issn.1674-8115.2025.11.015

Case report

A case of primary pigmented nodular adrenocortical disease associated with germline PRKACA duplication variation

  • ZHOU Jianhua ,
  • ZHANG Hongli ,
  • LI Xiaohua
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  • Department of Endocrinology and Metabolism, the Seventh People′s Hospital Affiliated to Shanghai University of Traditional Chinese Medicine, Shanghai 200137, China
LI Xiaohua, E-mail: z18702172007@163.com.

Received date: 2025-08-19

  Accepted date: 2025-10-11

  Online published: 2025-12-03

Supported by

Shanghai Pudong New Area Health Commission Leading Talent Training Plan(PWR12021-06);Shanghai Central Administration Bureau′s“14th Five-Year Plan” Traditional Chinese Medicine Specialty and Traditional Chinese Medicine Emergency Capacity Improvement Project Incubation Project (Traditional Chinese Medicine Endocrinology Department)(ZYTSZK2-18);Central Fiscal Support for Demonstration Pilot Projects on the Inheritance and Innovative Development of Traditional Chinese Medicine(YC-2023-0201)

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Abstract

Primary pigmented nodular adrenocortical disease (PPNAD) is a rare subtype of adrenocorticotropic hormone (ACTH)-independent Cushing′s syndrome and the most common endocrine gland lesion in Carney complex (CNC). This article reported a case of PPNAD and CNC in an adult patient. The patient presented with speckled pigmentation around both eyes, lacked typical Cushingoid features, and exhibited symptoms of diabetes, hypertension, and osteoporosis. The circadian rhythm of blood cortisol levels disappeared, and neither the low-dose nor high-dose dexamethasone suppression tests were inhibited. The 24-hour urinary free cortisol was elevated. Enhanced adrenal computed tomography (CT) showed bilateral adrenal hyperplasia with uniform enhancement after contrast. Through genetic testing, an approximately 0.69Mbp duplication (copy number=3) was found in the 19p13.2-p13.12 region of the proband, which contained the protein kinase cAMP-dependent catalytic subunit α gene (PRKACA). The genetic test of the proband′s daughter also revealed the same genomic duplication. The patient was eventually diagnosed with PPNAD and CNC and underwent laparoscopic right adrenalectomy. Intraoperative pathology showed adrenal cortical hyperplasia and gray-brown nodules. Post-operative pathology confirmed adrenal cortical hyperplasia with abundant lipofuscin in the cytoplasm. The patient received short-term replacement therapy with prednisone acetate tablets, which was discontinued after 3 months. Currently, the patient′s condition is stable and further follow-up is in ongoing.

Key words： primary pigmented nodular adrenocortical disease (PPNAD); ACTH-independent Cushing′s syndrome; genomic duplication; protein kinase cAMP - dependent catalytic subunit α (PRKACA); Carney complex (CNC)

Cite this article

ZHOU Jianhua , ZHANG Hongli , LI Xiaohua . A case of primary pigmented nodular adrenocortical disease associated with germline PRKACA duplication variation[J]. Journal of Shanghai Jiao Tong University (Medical Science), 2025 , 45(11) : 1552 -1558 . DOI: 10.3969/j.issn.1674-8115.2025.11.015

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