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Published on: September 15, 2017

Clinical characterization of Japanese children with Cushing's disease

Mari Yamamoto1,2, Yuri Mukoyama1, Kentaro Kishi1

  • 1Department of Pediatrics, Toranomon Hospital, Tokyo 105-8470, Japan.

Endocrine Journal
|July 1, 2026
PubMed

Insights

This study highlights the clinical features of Cushing's disease in Japanese children, noting frequent symptoms like facial changes and obesity. Effective diagnostic methods and high remission rates were observed, with significant improvements in height and BMI standard deviation scores post-treatment.

Area of Science:

  • Pediatric Endocrinology
  • Neuroendocrinology
  • Rare Diseases

Background:

  • Cushing's disease (CD) is exceptionally rare in pediatric populations.
  • Understanding the clinical presentation and diagnostic challenges in children is crucial for timely intervention.

Purpose of the Study:

  • To retrospectively analyze the clinical characteristics, diagnostic approaches, and treatment outcomes of pediatric Cushing's disease in Japanese patients.
  • To evaluate the effectiveness of various diagnostic tests and the impact of treatment on growth parameters.

Main Methods:

  • Retrospective analysis of medical records for 19 children diagnosed with Cushing's disease (age ≤18 years) between 1994 and 2025.
  • Assessment of diagnostic test sensitivities for endogenous hypercortisolism and etiological diagnosis.
  • Evaluation of tumor detection rates via MRI and treatment remission rates.

Main Results:

  • Common symptoms included facial changes, weight gain, central obesity, and hirsutism.
  • Diagnostic screening tests for hypercortisolism demonstrated 100% sensitivity.
  • Etiological diagnosis tests showed high sensitivities (83.3%-93.8%), with a 72.2% tumor detection rate by MRI.
  • A high total remission rate of 94.4% was achieved, with significant improvements in height and BMI standard deviation scores post-treatment.

Conclusions:

  • Cushing's disease in Japanese children presents with distinct clinical features and significant growth disturbances.
  • Standard diagnostic protocols are effective, and treatment leads to substantial clinical and growth improvements.
  • This study provides valuable insights into the management of pediatric Cushing's disease in a Japanese cohort.

Keywords:
Cushing’s diseaseFacial changeGrowth failureJapanese children

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