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Utility of a Commercially Available Blood Steroid Profile in Endocrine Practice
Vijaya Sarathi1, Sridevi Atluri2, T V S Pradeep1
1Department of Endocrinology, Narayana Medical College and Hospital, Nellore, Andhra Pradesh, India.
Indian Journal of Endocrinology and Metabolism
|April 25, 2019
Summary
A new blood steroid profile test in India is useful for diagnosing 11 β-hydroxylase deficiency in disorders of sex development (DSD). However, its utility is limited for evaluating 46, XY individuals with under-virilization.
Area of Science:
- Endocrinology
- Clinical Chemistry
Background:
- A blood steroid profile test is now commercially available in India.
- This study reports initial experiences using this test for disorders of sex development (DSD) and suspected congenital adrenal hyperplasia (CAH).
Purpose of the Study:
- To evaluate the utility of a blood steroid profile test in diagnosing DSD and CAH.
- To identify potential applications in endocrine practice.
Main Methods:
- Six subjects were evaluated, including patients with virilization and amenorrhea suspected of CAH, and 46, XY individuals reared as girls.
- Blood steroid profiles were analyzed using Liquid chromatography tandem mass spectrometry (LC-MS/MS).
Main Results:
- The steroid profile accurately diagnosed 11 β-hydroxylase deficiency in two patients.
- It excluded CAH in one patient, leading to a polycystic ovary syndrome diagnosis.
- The test ruled out steroidogenesis defects in 46, XY patients but did not provide specific diagnoses.
Conclusions:
- The blood steroid profile is highly useful for diagnosing 11 β-hydroxylase deficiency.
- Its diagnostic value is limited in evaluating under-virilized 46, XY individuals.
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