Special Precautions/Comments:

For diagnosis in neonates, do not collect samples before 3 days of age and take samples before steroid replacement.

17OHP is analysed by LCMS as part of an androgen profile, also including DHEAS, testosterone, and androstenedione. Although all analytes are analysed in a single profile, only those requested will be reported.

Additional Information:

17-hydroxy progesterone (17OHP) is a precursor of cortisol produced in the adrenal gland in males and females. In females a small amount is also produced by the ovaries.

Serum levels of 17OHP are raised when there is impairment in the 21- and 11-alpha-hydroxylation steps in the production of cortisol. Diagnosis of classical congenital adrenal hyperplasia (CCAH) due to these defects (most commonly 21-hydroxylase deficiency) may be made by measuring 17OHP levels in serum/plasma. 17OHP levels may also be used to monitor glucocorticoid therapy in patients with CCAH. Newborns with CCAH may present with ambiguous genitalia (in females) or salt-wasting adrenal crisis, typically 2-3 weeks after birth. These adrenal crises can be life-threatening.

Milder defects in 21-hydroxylase may lead to non-classical CAH (NCCAH), also known as late-onset CAH. Female patients with NCCAH may present with a PCOS-like phenotype, with hirsutism and/or menstrual irregularities. NCCAH may also be associated with early (precocious) puberty.