Medical Management of Paediatric Cushing Syndrome Presenting with Severe Hypercortisolism
https://doi.org/10.15605/jafes.041.S1
- Author:
Yee Lin Lee
1
;
Chun Jie Lee
1
;
Tzer Hwu Ting
1
;
Ooi Chuan Ng
2
Author Information
1. Department of Paediatrics, Hospital Sultan Abdul Aziz Shah, Universiti Putra Malaysia
2. Department of Medicine, Hospital Sultan Abdul Aziz Shah, Universiti Putra Malaysia
- Publication Type:Journal Article
- MeSH:
Child;
Cushing Syndrome
- From:
Journal of the ASEAN Federation of Endocrine Societies
2026;41(S1):133-
- CountryPhilippines
- Language:English
-
Abstract:
Introduction:Endogenous Cushing syndrome is a rare manifestation of chronic cortisol excess. It may present with severe hypercortisolism complicated by life-threatening opportunistic infections. Surgical management of a cortisol-secreting tumor is
the mainstay of therapy. However, when the source is not found or when surgery is not feasible, medical therapies may be
employed for rapid control of hypercortisolism.
CASE:A 13-year-old male presented with breathlessness for one day. He also had a cough associated with weight loss, weakness,
and hallucinations for 1 month. On presentation, he was tachypneic and had moon facies, acne, fine moustache, limb
wasting, and pigmented nail beds. He was also hypertensive and developed an episode of seizure during admission.
Investigation results showed severe hypokalemia and lymphopenia. Radiological examination revealed pneumothorax
with multiple lung cavitations and brain tuberculomas. Bronchoalveolar lavage (BAL) was positive for Aspergillus
fumigatus. However, both BAL and CSF PCR and culture for TB were negative. Serum ACTH was 379 pg/mL (0–46), and
morning serum cortisol was 2,948 nmol/L with loss of diurnal rhythm. His 24-hour urine cortisol was 14,252 nmol/24
hour (31.7–282). This is consistent with ACTH-dependent Cushing syndrome. He was started on anti-TB and anti-fungal
treatment. Serum cortisol levels were persistently high while on high-dose intravenous dexamethasone treatment for TB
meningitis. An MRI pituitary and a CT scan thorax, abdomen, and pelvis could not reveal an ACTH-secreting tumor
source. Metyrapone was started and titrated upwards to control the hypercortisolism. Serum cortisol reduced to 200–300
nmol/L after 1 month, and 24-hour urinary cortisol was down to 22.4 nmol/24 hour after 4 months, requiring weaning
of metyrapone doses.
Conclusion:Metyrapone is effective in the rapid control of severe hypercortisolism with life-threatening complications, as illustrated
in this case. However, it warrants careful monitoring and titration.
- Full text:2026080513133455544BC_P001.pdf
