11ß-hydroxylase deficiency masked by alternative medicines

Greaves, R, Poomthavorn, P and Zacharin, M 2006, '11ß-hydroxylase deficiency masked by alternative medicines', Journal of Paediatric Child Health, vol. 42, no. 10, pp. 652-654.


Document type: Journal Article
Collection: Journal Articles

Title 11ß-hydroxylase deficiency masked by alternative medicines
Author(s) Greaves, R
Poomthavorn, P
Zacharin, M
Year 2006
Journal name Journal of Paediatric Child Health
Volume number 42
Issue number 10
Start page 652
End page 654
Total pages 3
Publisher Wiley-Blackwell Publishing Ltd.
Abstract A 3.5-year-old Vietnamese boy presented with precocious pseudopuberty, hypertension and a skin rash that was treated with Vietnamese medications for 6 weeks, with resolution. Serum androgen levels were prepubertal, adrenal ultrasound was normal but a large unknown abnormal peak was detected in the urine steroid profile. Cessation of medications disclosed elevation of plasma androgen and 11-deoxycortisol levels. The unidentified urine steroid profile peak disappeared and a tetrahydro-11-deoxycortisol peak was detected. This patient represents a difficult and challenging diagnosis of 11ß-hydroxylase deficiency. Careful evaluation of history and physical finding in the presence of apparent biochemistry discrepancy resulted in a correct diagnosis. © 2006 The Authors.
DOI - identifier 10.1111/j.1440-1754.2006.00925.x
ISSN 1034-4810
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