Prepubertal Cushing's disease is more common in males, but there is no increase in severity at diagnosis

Helen L Storr1, Andrea M Isidori, John P Monson

  • 1Department of Endocrinology, St. Bartholomew's and The Royal London School of Medicine and Dentistry, West Smithfield, London, United Kingdom EC1A 7BE.

Insights

Cushing's disease (CD) shows different sex distributions before and after age 18. In children, males are more affected, while adult CD is more common in females. Disease severity at diagnosis is similar between sexes in younger patients.

Area of Science:

  • Pediatric Endocrinology
  • Endocrinology
  • Clinical Medicine

Background:

  • Cushing's disease (CD) is a rare endocrine disorder caused by excess cortisol.
  • Adult CD predominantly affects females, often presenting with more severe disease in males.
  • Limited data exists on sex distribution and disease severity in pediatric CD.

Purpose of the Study:

  • To analyze sex distribution and biochemical severity of CD at diagnosis in pediatric and young adult patients.
  • To compare disease characteristics between males and females in different age groups and pubertal statuses.

Main Methods:

  • Retrospective analysis of 50 CD patients (aged 6.4-30.0 years) diagnosed at a single center.
  • Categorization into age groups: ≤18 years and 18-30 years.
  • Assessment of sex distribution based on age and pubertal status, and comparison of biochemical markers (cortisol, ACTH) between sexes.

Main Results:

  • CD diagnosed ≤18 years predominantly affected males (68%), while CD diagnosed 18-30 years predominantly affected females (84%).
  • Prepubertal CD showed a strong male predominance (91%), whereas postpubertal CD showed a female predominance (81%).
  • No significant difference in hypercortisolemia or ACTH levels at diagnosis was observed between males and females in patients ≤18 years.

Conclusions:

  • The female preponderance of CD seen in adults is not observed in childhood.
  • In pediatric CD (≤18 years), males are more frequently diagnosed, but disease severity at diagnosis is similar between sexes.
  • Pubertal status significantly influences sex distribution in CD, with prepubertal males and postpubertal females being more commonly affected.

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