Journal article

Publication year: 2014

Pages: 1043-1047

Journal: Journal of Pediatric Endocrinology and Metabolism

Volume number: 27

Issue number: 11-12

ISSN: 0334-018X

eISSN: 2191-0251

DOI Link: https://doi.org/10.1515/jpem-2014-0230

Publisher: De Gruyter

Abstract: 

BackgroundA Cushing's disease is very rare in children, and the diagnosis is frequently delayed by several years.

Objective: We report a case of prepubertal Cushing's disease with a medical history of only 9 months. This case illustrates the difficulties involved in diagnosing children at the early stage of the disease.

Case presentation: An 8-year-old prepubertal boy presented with rapid weight gain accompanied by a decreasing growth velocity and hirsutism. Thyroid function tests and growth factor levels were normal, thus excluding hypothyroidism and growth hormone deficiency. Cushing's syndrome was confirmed by elevated 24-h urinary free cortisol levels, increased diurnal cortisol levels, and a lack of cortisol suppression in the low-dose dexamethasone suppression test. Further tests to investigate the source of the hypercortisolism showed the following results: Basal morning adrenocorticotropic hormone (ACTH) was normal. The high-dose dexamethasone suppression test led to a 51% decrease in cortisol level. In the corticotropin-releasing hormone (CRH) test, ACTH and cortisol increased only by 28%. Repeated magnetic resonance imaging (MRI) finally revealed a microadenoma in the anterior pituitary, thus establishng the diagnosis of Cushing's disease. Upon diagnosis, the patient underwent transsphenoidal surgery. Histological analysis confirmed an ACTH-secreting pituitary adenoma.

Conclusion: This case illustrates the difficulties associated with the clinical, biochemical, and radiological diagnoses of Cushing's disease in children. Early diagnosis remains a challenge because test results often do not match standard diagnostic criteria.

Harvard Citation style: Hoppmann, J., Wagner, I., Junghans, G., Wudy, S., Buchfelder, M., Hirsch, F., et al. (2014) How early can one diagnose Cushing's disease? An early diagnosis in a case of prepubertal Cushing's disease, Journal of Pediatric Endocrinology and Metabolism, 27(11-12), pp. 1043-1047. https://doi.org/10.1515/jpem-2014-0230

APA Citation style: Hoppmann, J., Wagner, I., Junghans, G., Wudy, S., Buchfelder, M., Hirsch, F., Ritter, L., Kiess, W., & Pfaeffle, R. (2014). How early can one diagnose Cushing's disease? An early diagnosis in a case of prepubertal Cushing's disease. Journal of Pediatric Endocrinology and Metabolism. 27(11-12), 1043-1047. https://doi.org/10.1515/jpem-2014-0230