Clinical characterization of Japanese children with Cushing’s disease
Abstract
Cushing's disease (CD) is very rare in children. Nineteen children (≤18 years) with CD (median age at diagnosis: 13 [6-17] years; 12 females) were retrospectively analyzed using medical records (1994-2025) from Toranomon Hospital, Tokyo, Japan. Facial changes (88.9%), weight gain with decreased growth rate (88.9%), central obesity (88.9%) and hirsutism (94.4%) were frequently observed at diagnosis. Median time to diagnosis was 2.7 (0.25-5.8) years. Screening for endogenous hypercortisolism was assessed by 24-hour urinary free cortisol levels, serum cortisol levels at 23:00, and serum cortisol levels at 8:00 after a low-dose dexamethasone suppression test (DST), each with 100% sensitivity. Etiological diagnosis was evaluated by serum cortisol levels at 8:00 after a high-dose DST, plasma adrenocorticotropic hormone (ACTH) levels after a corticotropin-releasing hormone test, and plasma ACTH levels at 8:00, with sensitivities of 85.7%, 93.8%, and 83.3%, respectively. The actual tumor detection rate on magnetic resonance imaging (MRI) was 72.2%. Micro-pituitary neuroendocrine tumors were identified in 77.8% of patients. The total remission rate was 94.4% (median follow-up: 3.8 [0-10.4] years). The mean standard deviation scores (SDS) (SD) of height and body mass index (BMI) at onset and diagnosis were -0.45 (0.63) and -2.0 (1.1), and 0.61 (0.95) and 1.6 (0.75), respectively. Height and BMI SDS (SD) improved to -1.0 (0.80) and 0.091 (1.2) at the last visit (age: 11.4-17.5 years; follow-up: 1-8.6 years), respectively. This study revealed clinical characteristics of Japanese children with CD, including distinctive BMI SDS and a high tumor detection rate by MRI.
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BibTeX
@article{yamamoto2026clinical,
title = {{Clinical characterization of Japanese children with Cushing’s disease}},
author = {Mari Yamamoto and Yuri Mukoyama and Kentaro Kishi and Shun Moriguchi and Fumihiko Takizawa and Tetsushi Ogawa and Junko Ito and Susumu Yokoya and Hirokazu Fukuhara and Noriaki Fukuhara and Masahiko Tosaka and Hiroshi Nishioka and Shozo Yamada and Masakazu Mimaki and Tsuyoshi Isojima},
journal = {Endocrine Journal},
year = {2026},
month = jul,
doi = {10.1507/endocrj.ej26-0212},
url = {https://www.jstage.jst.go.jp/article/endocrj/advpub/0/advpub_EJ26-0212/_article},
note = {CC BY-NC-ND},
}
RIS
TY - JOUR
TI - Clinical characterization of Japanese children with Cushing’s disease
AU - Mari Yamamoto
AU - Yuri Mukoyama
AU - Kentaro Kishi
AU - Shun Moriguchi
AU - Fumihiko Takizawa
AU - Tetsushi Ogawa
AU - Junko Ito
AU - Susumu Yokoya
AU - Hirokazu Fukuhara
AU - Noriaki Fukuhara
AU - Masahiko Tosaka
AU - Hiroshi Nishioka
AU - Shozo Yamada
AU - Masakazu Mimaki
AU - Tsuyoshi Isojima
PY - 2026
DA - 2026/07/02
JO - Endocrine Journal
DO - 10.1507/endocrj.ej26-0212
UR - https://www.jstage.jst.go.jp/article/endocrj/advpub/0/advpub_EJ26-0212/_article
AB - Cushing's disease (CD) is very rare in children. Nineteen children (≤18 years) with CD (median age at diagnosis: 13 [6-17] years; 12 females) were retrospectively analyzed using medical records (1994-2025) from Toranomon Hospital, Tokyo, Japan. Facial changes (88.9%), weight gain with decreased growth rate (88.9%), central obesity (88.9%) and hirsutism (94.4%) were frequently observed at diagnosis. Median time to diagnosis was 2.7 (0.25-5.8) years. Screening for endogenous hypercortisolism was assessed by 24-hour urinary free cortisol levels, serum cortisol levels at 23:00, and serum cortisol levels at 8:00 after a low-dose dexamethasone suppression test (DST), each with 100% sensitivity. Etiological diagnosis was evaluated by serum cortisol levels at 8:00 after a high-dose DST, plasma adrenocorticotropic hormone (ACTH) levels after a corticotropin-releasing hormone test, and plasma ACTH levels at 8:00, with sensitivities of 85.7%, 93.8%, and 83.3%, respectively. The actual tumor detection rate on magnetic resonance imaging (MRI) was 72.2%. Micro-pituitary neuroendocrine tumors were identified in 77.8% of patients. The total remission rate was 94.4% (median follow-up: 3.8 [0-10.4] years). The mean standard deviation scores (SDS) (SD) of height and body mass index (BMI) at onset and diagnosis were -0.45 (0.63) and -2.0 (1.1), and 0.61 (0.95) and 1.6 (0.75), respectively. Height and BMI SDS (SD) improved to -1.0 (0.80) and 0.091 (1.2) at the last visit (age: 11.4-17.5 years; follow-up: 1-8.6 years), respectively. This study revealed clinical characteristics of Japanese children with CD, including distinctive BMI SDS and a high tumor detection rate by MRI.
SN - 1348-4540
SN - 0918-8959
ER -