Quest Diagnostics has implemented state-of-the-art LC/MS/MS methods for steroid measurement. This technology enables multi-analyte profiling from a single analysis and requires minimal sample volume (as little as 100 μL for the simultaneous measurement of 13 adrenal steroids.). The excellent accuracy and precision of LC/MS/MS translates into improved clinical correlation to support diagnosis. This approach has been recommended for the evaluation of various hyperandrogenic disorders, including congenital adrenal hyperplasia (CAH) and polycystic ovary syndrome (PCOS).^1-4 Steroid panels designed to assist in diagnosing these and other conditions are described in the Table. The table is provided for informational purposes only and is not intended as medical advice. A physician’s test selection and interpretation, diagnosis, and patient management decisions should be based on his/her education, clinical expertise, and assessment of the patient.

Congenital Adrenal Hyperplasia

CAH, a group of autosomal recessive disorders of steroid biosynthesis, is most commonly caused by deficiencies in 21-hydroxylase (90% to 95% of cases) and 11-hydroxylase (5% to 8% of cases).⁵ Rare enzyme deficiencies are also seen in 3β-hydroxysteroid dehydrogenase and 17-hydroxylase. Overlapping clinical features make the differential diagnosis of CAH difficult. However, measuring steroid profiles rather than single steroids has improved the diagnostic accuracy.^3,4

Late-onset CAH is commonly caused by 21-hydroxylase deficiency and rarely caused by 11-hydroxylase deficiency. Both present in childhood or postpuberty with evidence of androgen excess (eg, hirsutism, oligomenorrhea). Screening for late-onset 21-hydroxylase deficiency requires an early morning (before 8 am) serum collection for 17-hydroxyprogesterone. Levels >200 ng/dL suggest 21-hydroxylase deficiency and require follow-up testing after cosyntropin stimulation with either a complete adrenocortical steroid profile in children or a 17-hydroxyprogesterone test in adults.⁴ An increased baseline 11-deoxycortisol and/or deoxycorticosterone level suggests 11-hydroxylase deficiency. An exaggerated increase in either of these steroids after cosyntropin stimulation can confirm the diagnosis.

Polycystic Ovary Syndrome

PCOS, the most common endocrinopathy in women of reproductive age, is characterized by oligo/amenorrhea, clinical features of hyperandrogenism (ie, acne, alopecia, hirsutism) and/or biochemical hyperandrogenemia, and/or polycystic ovaries. Biochemical hyperandrogenemia is most frequently detected with measurement of free testosterone, which is elevated in ~70% of cases.² Expert groups recommend that secondary causes of the presenting symptoms be excluded before PCOS is diagnosed.³ These include nonclassic CAH, hyperprolactinemia, and androgen-secreting tumors.

Premature Adrenarche

Premature adrenarche refers to an abnormal increase in adrenal androgen production that results in the appearance of pubic and/or axillary hair before age 8 in girls and age 9 in boys.⁶ This condition is much more common in girls than boys (10:1). In girls, premature adrenarche is not benign and is associated with increased incidence of PCOS, metabolic syndrome, and type II diabetes mellitus later in life.⁶ The impact of premature adrenarche in boys is inconclusive.⁶

In premature adrenarche, androgens such as androstenedione, dehydroepiandrosterone (DHEA), and testosterone are moderately increased for chronological age.⁶ Markedly increased testosterone levels (>150 ng/dL) are associated with androgen-secreting tumors.²