Utility of a commercially available blood steroid profile in endocrine practice

Abstract

Background: A blood steroid profile has recently become available on commercial basis in India. In this study, we report our initial experience with the use of steroid profile in the evaluation of disorders of sex development (DSD) and suspected cases of congenital adrenal hyperplasia (CAH) and discuss the potential scenarios in endocrine practice that may benefit from this steroid profile. Materials and Methods: The study included six subjects. Patient 1 was a 46, XX girl who presented with peripubertal virilization, patient 2 was a girl who presented with normal pubertal development, secondary amenorrhea, and virilization, and patient 3 was a girl who presented with primary amenorrhea and virilization. These three patients were suspected to have CAH but had non-diagnostic serum 17 OH-progesterone levels. Patient 4 and 5 were 46, XY reared as girls who presented with primary amenorrhea alone and primary amenorrhea and virilization, respectively, and sixth subject was a heathy volunteer. All subjects were evaluated with blood steroid profile by Liquid chromatography tandem mass spectrometry (LC-MS/MS). Results: Patient 1 and 2 were diagnosed to have 11 β-hydroxylase deficiency by using the steroid profile. Patient 3 was suspected to have CAH, but the steroid profile excluded the diagnosis and helped to confirm the diagnosis as polycystic ovary syndrome. In patient 4 and patient 5, although steroid profile ruled out the possibility of steroidogenesis defects, it did not help to reach at the specific diagnosis. Conclusion: The blood steroid profile used in this study is most useful for the diagnosis of 11 β-hydroxylase deficiency. The utility of this test is limited in the evaluation of 46, XY patients with under-virilization.