17-OH Progesterone

Laboratory assay overview

17-Hydroxyprogesterone is elevated in patients with Congenital Adrenal Hyperplasia (CAH). CAH is a group of autosomal recessive diseases characterized by a deficiency of cortisol and an excess of ACTH concentration. 17-Hydroxyprogesterone is also useful in monitoring cortisol replacement therapy and in evaluating infertility and adrenal and ovarian neoplasms.

Laboratory assay overview

17-Hydroxyprogesterone is elevated in patients with Congenital Adrenal Hyperplasia (CAH). CAH is a group of autosomal recessive diseases characterized by a deficiency of Cortisol and an excess of ACTH concentration. 17-Hydroxyprogesterone is also useful in monitoring Cortisol replacement therapy and in evaluating infertility and adrenal and ovarian neoplasms.

Laboratory assay overview

17-hydroxyprogesterone is elevated in patients with congenital adrenal hyperplasia (CAH). CAH is a group of autosomal recessive diseases characterized by a deficiency of cortisol and an excess of ACTH concentration. 17-hydroxyprogesterone is also useful in monitoring cortisol replacement therapy and in evaluating infertility and adrenal and ovarian neoplasms.

Laboratory assay overview

Markedly elevated in patients with congenital adrenal hyperplasia;1-5 evaluate hirsutism and/or infertility;6 assess or rule out certain adrenal or ovarian tumors with endocrine activity7

Laboratory assay overview

This test may involve significant risk and should be performed only by qualified personnel who are familiar with the test and who have taken adequate precautions to protect the safety of the patient. Every effort has been made to ensure accuracy in these recommendations, but clinicians must use their judgment and refer to specific pharmaceutical resources to determine appropriate drug dosages for their patients.

Laboratory assay overview

Deficiency of 21-Hydroxylase is the most frequent cause of congenital adrenal hyperplasia (accounting for ~95% of cases) and 11Beta-Hydroxylase is the second most frequent (~5% of cases). Deficiencies of these two enzymes result in the accumulation of distinct steroid precursors.

Laboratory assay overview

This panel may be used for differential diagnosis of congenital adrenal hyperplasia (CAH) and aldosterone synthase deficiency. In addition to the analytes included in this panel (17-hydroxyprogesterone, 11-deoxycortisol, 18-hydroxycorticosterone, aldosterone), other tests may be required to establish a diagnosis. CAH is a group of autosomal recessive diseases characterized by deficiencies of enzymes in steroid hormone production. These deficiencies cause imbalances of steroid intermediates and hormones. Clinical manifestations of CAH vary and depend upon the type of defect [1,2]. When symptoms and signs suggest aldosterone deficiency, this panel may be used to assist in diagnosing different types of CAH as well as aldosterone synthase deficiency, an inherited disorder caused by disruption of the final steps of aldosterone biosynthesis [3]. 17-hydroxyprogesterone levels are elevated in patients with 21-hydroxylase deficiency (the cause of 95% of CAH). 11-beta-hydroxylase and P450 oxidoreductase deficiency can also result in elevated 17-hydroxyprogesterone levels, whereas other types of CAH can result in decreased 17-hydroxyprogesterone levels [1,2]. 11-deoxycortisol levels are elevated in patients with 11-beta-hydroxylase deficiency and decreased in patients with P450 cholesterol side-chain cleavage enzyme deficiency [2]. 18-hydroxycorticosterone is markedly elevated in patients with corticosterone methyloxidase (CMO) deficiency type II and mildly decreased in patients with CMO deficiency type I [3]. Aldosterone levels are decreased in patients with most types of CAH and CMO deficiency type II and undetectable in patients with CMO deficiency type I [3]. Other tests and panels are available to help differentiate among different types of CAH and disorders with similar clinical manifestations. The results of this test should be interpreted in the context of pertinent clinical and family history and physical examination findings. References 1. Speiser PW, et al. J Clin Endocrinol Metab. 2018;103(11):4043-4088. 2. El-Maouche D, et al. Lancet. 2017;390(10108):2194-2210 3. White PC. Mol Cell Endocrinol. 2004;217(1-2):81-87.

Laboratory assay overview

All steroids requiring the action of 17-Hydroxylase enzyme are low, including 17-OH Progesterone and Cortisol. Levels of estradiol and aldosterone are also low. Additional testing may be required to establish a diagnosis.

Laboratory assay overview

Total cortisol concentrations are decreased in Addison's disease and increased in Cushing's disease and in other conditions of glucocorticoid excess.

Laboratory assay overview

This panel is intended to aid physicians in diagnosing polycystic ovary syndrome (PCOS) by assessing biochemical hyperandrogenism and ruling out other disorders that mimic the clinical features of PCOS. This assay provides the sensitivity and specificity required for the assessment of the low testosterone levels found in women, children, adolescents, and hypogonadal men.1

Laboratory assay overview

This panel is of value in pediatric patients to differentiate between CAH (21-hydroxylase deficiency) and acute stress due to other causes.

Laboratory assay overview

This panel identifies all major adrenal steroid hormones and facilitates the diagnosis of the four enzymatic defects associated with congenital adrenal hyperplasia (CAH). All steroids are determined in a single assay by LCMSMS using as little as 0.1 mL serum.

Laboratory assay overview

This panel is useful for the diagnosis/management of patients with the most common forms (21-hydroxylase or 11-hydroxylase deficiency) of congenital adrenal hyperplasia.

Laboratory assay overview

This panel is important in the differential diagnosis of PCOS vs. non-classical CAH in women with oligomenorrhea/amenorrhea and signs of androgen excess.

Laboratory assay overview

This panel provides testing, along with DHEA Sulfate, for those hormones associated with a premature increase in adrenal androgens. This is usually seen in girls <8 years and boys <9 years of age with sexual hair.