Multidisciplinary consultation on difficult cases in Guangdong Urological Association （Phase 22）： ACTH-independent bilateral adrenal hyperplasia

doi:10.3877/cma.j.issn.1674-3253.2025.03.017

Abstract

Abstract:

This article reports a case of complex pediatric adrenal cortical hyperplasia.The patient was a 5-year-old boy admitted for "cough， fever， and convulsions." Physical examination revealed typical Cushingoid signs： moon face， rough skin， facial hirsutism， and a high blood pressure of 149/99 mmHg.Laboratory tests indicated severe electrolyte disorders and significantly elevated cortisol levels.Imaging showed diffuse enlargement of both adrenal glands with a nodule on the left side.Through Multidisciplinary consultation on difficult cases in Guangdong Urological Association， pediatric experts ruled out primary aldosteronism， radiology experts confirmed the characteristics of adrenal hyperplasia with adenoma，and urological surgery experts emphasized the necessity of surgery， intraoperative arterial blood pressure monitoring， and postoperative cortisol replacement therapy.Based on the discussion， whole-exome sequencing was performed， revealing a 3.6 Mb copy number duplication in the 19p13.2-p13.11 region， involving key genes such as PRKACA， consistent with the molecular features of PPNAD4.After fully informing the patient's family about the discussion and obtaining informed consent， a transabdominal laparoscopic left adrenalectomy was performed.Postoperative pathology confirmed a cortical adenoma.Postoperatively， blood pressure was controlled with a reduced dosage of antihypertensive drugs， and cortisol levels returned to normal within two weeks.This case suggests that copy number variations in chromosome 19p lead to ACTH-independent Cushing's syndrome through the constitutive activation of the PRKACA gene.Pediatric adrenal surgery requires individualized selection of the surgical approach （prioritizing the more severely affected side）， and caution is needed to prevent postoperative adrenal crisis.Multimodal evaluation （genetic， imaging， and pathological） is of core value in the diagnosis and treatment of complex bilateral adrenal hyperplasia.

Key words: Adrenal hyperplasia, PRKACA gene mutation, Cushing syndrome, Laparoscopy, Adrenalectomy, Multidisciplinary consultation

Zhansen Huang, Jinbin Xu, Qunxiong Huang, Tengcheng Li, Jinming Di. Multidisciplinary consultation on difficult cases in Guangdong Urological Association （Phase 22）： ACTH-independent bilateral adrenal hyperplasia[J]. Chinese Journal of Endourology(Electronic Edition), 2025, 19(03): 384-389.

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References 25

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