The Endocrine Phenotype Induced by Pediatric Adrenocortical Tumors Is Age- and Sex-Dependent

Research output: Contribution to journalResearch articleContributedpeer-review

Contributors

  • Marina Kunstreich - , Otto von Guericke University Magdeburg (Author)
  • Desiree Dunstheimer - , University Hospital Augsburg (Author)
  • Pascal Mier - , Otto von Guericke University Magdeburg (Author)
  • Paul-Martin Holterhus - , University Hospital Schleswig-Holstein Campus Kiel (Author)
  • Stefan A Wudy - , Justus Liebig University Giessen (Author)
  • Angela Huebner - , Department of Paediatrics (Author)
  • Antje Redlich - , Otto von Guericke University Magdeburg (Author)
  • Michaela Kuhlen - , University Hospital Augsburg (Author)

Abstract

CONTEXT: Adrenocortical carcinomas are very rare malignancies in childhood associated with poor outcome in advanced disease. Most adrenocortical tumors (ACT) are functional, causing signs and symptoms of adrenal hormone excess. In most studies, endocrine manifestations were reported 4 to 6 months prior to diagnosis.

OBJECTIVE: We sought to extend knowledge on endocrine manifestations with regard to age and sex to facilitate early diagnosis.

METHODS: We retrospectively analyzed features of adrenal hormone excess in children and adolescents with ACT registered with the GPOH-MET studies between 1997 and 2022. Stage of puberty was defined as prepubertal in females < 8 years of age and males < 9 years.

RESULTS: By December 2022, 155 patients (110 female, 45 male) with data on endocrine manifestations had been reported. Median age at ACT diagnosis was 4.2 years [0.1-17.8], median interval from first symptoms was 4.2 months [0-90.7]. In 63 girls of prepubertal age, the most frequently reported manifestations were pubarche (68.3%), clitoral hypertrophy (49.2%), and weight gain (31.7%); in 47 pubertal female patients, the most frequent manifestations were excessive pubic hair (46.8%), acne (36.2%), and hypertension (36.2%). Leading symptoms in 34 boys of prepubertal age were pubarche (55.9%), penile growth (47.1%), and acne (32.4%), while in 11 pubertal male patients, leading symptoms were weight gain (45.5%), hypertension (36.4%), excessive pubic hair (27.3%), and cushingoid appearance (27.3%). In pubertal patients, symptoms of androgen excess were mainly unrecognized as part of pubertal development, while symptoms of Cushing syndrome were more frequently apparent.

CONCLUSION: The endocrine phenotype induced by pediatric ACT is age- and sex-dependent.

Details

Original languageEnglish
Pages (from-to)2053-2060
Number of pages8
JournalThe Journal of clinical endocrinology and metabolism
Volume109
Issue number8
Publication statusPublished - 12 Jul 2024
Peer-reviewedYes

External IDs

Scopus 85198644414

Keywords

Keywords

  • Adolescent, Adrenal Cortex Neoplasms/pathology, Adrenocortical Carcinoma/pathology, Age Factors, Child, Child, Preschool, Female, Humans, Infant, Male, Phenotype, Puberty/physiology, Retrospective Studies, Sex Factors