11ß-Hydroxylase deficiency detected by urine steroid metabolome profiling using gas chromatography-mass spectrometry

Tran, M, Tran, N, Nguyen, P, Vu, C, Tran, M, Ngo, D, Nguyen, H and Greaves, R 2018, '11ß-Hydroxylase deficiency detected by urine steroid metabolome profiling using gas chromatography-mass spectrometry', Clinical Mass Spectrometry, vol. 7, pp. 1-5.


Document type: Journal Article
Collection: Journal Articles

Title 11ß-Hydroxylase deficiency detected by urine steroid metabolome profiling using gas chromatography-mass spectrometry
Author(s) Tran, M
Tran, N
Nguyen, P
Vu, C
Tran, M
Ngo, D
Nguyen, H
Greaves, R
Year 2018
Journal name Clinical Mass Spectrometry
Volume number 7
Start page 1
End page 5
Total pages 5
Publisher Elsevier BV
Abstract Introduction: 11ß-hydroxylase deficiency is the second most common form of congenital adrenal hyperplasia (CAH), accounting for 58% of all cases. It is an autosomal recessive enzyme defect that impairs the biosynthesis of cortisol and aldosterone. Mutation of the CYP11B1 gene on chromosome 8q22 causes partial or total reduction of enzyme activity. Clinical manifestations of 11ß-hydroxylase deficiency include hypertension, and other signs related to overproduction of mineralocorticoids, and virilisation. Here, we report on a case of 11ß-hydroxylase deficiency detected by urine steroid metabolome profiling. Case Subject: The patient, a 3-month-old male, suffered from truncus arteriosus type I (congenital cardiovascular anomaly) and also presented with hyperpigmentation. An endocrinology consultation was sought and biochemical and molecular testing was conducted. Results: The patient's urine steroid metabolome, as analysed by GC-MS, showed high excretion of tetrahydrodeoxycortisol (THS) and a THS/(THE + THF + 5aTHF) ratio of 2.3, which was higher than normal. Diagnosis of 11ß-hydroxylase deficiency was confirmed by mutation analysis of the CYP11B1 gene. Conclusion: Analysis of the urine steroid metabolome by GC-MS can be used to assist in diagnosis of 11ß-hydroxylase deficiency. We recommend consideration of urine steroid analysis as a first-line test in the diagnosis of CAH.
Subject Clinical Sciences not elsewhere classified
Keyword(s) 11ß-hydroxylase deficiency
Congenital adrenal hyperplasia
GC-MS
Urine steroid metabolome
DOI - identifier 10.1016/j.clinms.2017.12.001
Copyright notice © 2017 The Association for Mass Spectrometry: Applications to the Clinical Lab (MSACL). Published by Elsevier B.V. All rights reserved.
ISSN 2376-9998
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