How early can one diagnose Cushing's disease? An early diagnosis in a case of prepubertal Cushing's disease

Hoppmann J, Wagner IV, Junghans G, Wudy SA, Buchfelder M, Hirsch FW, Ritter L, Kiess W, Pfaeffle R (2014)


Publication Type: Journal article

Publication year: 2014

Journal

Publisher: Freund Publishing House / Walter de Gruyter

Book Volume: 27

Pages Range: 1043-7

Journal Issue: 11-12

DOI: 10.1515/jpem-2014-0230

Abstract

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

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APA:

Hoppmann, J., Wagner, I.V., Junghans, G., Wudy, S.A., Buchfelder, M., Hirsch, F.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 & Metabolism, 27(11-12), 1043-7. https://doi.org/10.1515/jpem-2014-0230

MLA:

Hoppmann, Julia, et al. "How early can one diagnose Cushing's disease? An early diagnosis in a case of prepubertal Cushing's disease." Journal of Pediatric Endocrinology & Metabolism 27.11-12 (2014): 1043-7.

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