NBS Congenital Adrenal Hyperplasia (17 OHP)

The NBS Congenital Adrenal Hyperplasia (17-OHP) test is a newborn screening test that measures 17-hydroxyprogesterone (17-OHP) levels in a dried blood spot collected from a baby’s heel. It is used to screen for Congenital Adrenal Hyperplasia (CAH), a group of inherited disorders that affect the adrenal glands’ ability to produce essential hormones such as cortisol and aldosterone. The most common form of CAH is caused by 21-hydroxylase deficiency, which leads to the accumulation of 17-OHP and a deficiency of vital hormones. If left undetected, affected newborns can develop a life-threatening salt-wasting adrenal crisis, characterized by dehydration, electrolyte imbalance, shock, and cardiovascular collapse. Early detection through newborn screening enables prompt treatment, preventing serious complications and improving long-term outcomes.

Who Should Get This Test Done?

This test may be recommended if:

●     Newborn is undergoing routine neonatal screening for inherited metabolic and hormonal disorders.

●     A female newborn has ambiguous genitalia, signs of virilisation, or atypical genital development.

●     Baby develops poor feeding, vomiting, excessive weight loss, lethargy, dehydration, or other symptoms suggestive of adrenal insufficiency in the first few weeks of life.

●     The newborn has unexplained low sodium, high potassium, hypoglycaemia, or other electrolyte abnormalities.

●     There is a family history of congenital adrenal hyperplasia (CAH), a previously affected sibling, or parents are known carriers of CYP21A2 gene mutations.

Why Consider This Test?

CAH is one of the most important conditions included in newborn screening because early diagnosis can be lifesaving. Babies with the severe salt-wasting form may appear healthy at birth but can rapidly develop a medical emergency within the first few weeks of life. Screening identifies affected infants before symptoms become severe, allowing timely initiation of hormone replacement therapy. Early treatment helps prevent adrenal crisis, supports normal growth and development, reduces complications from excess androgen production, and enables appropriate clinical management and family counselling.

More Information

The NBS Congenital Adrenal Hyperplasia (17-OHP) test is a newborn screening test that measures the level of 17-hydroxyprogesterone (17-OHP), a hormone involved in the production of cortisol by the adrenal glands. It helps identify newborns who may have Congenital Adrenal Hyperplasia (CAH), an inherited disorder that affects adrenal hormone production. Early detection is important because affected infants may not show obvious symptoms immediately after birth. This test forms an important part of newborn screening programs and helps support timely medical evaluation and care when needed.

Other Names

●     CAH Newborn Screen

●     17-Hydroxyprogesterone Newborn Screening Test

●     17-OHP Dried Blood Spot Test

●     Congenital Adrenal Hyperplasia Neonatal Screen

●     21-Hydroxylase Deficiency Screening Test

●     Heel Prick CAH Test

●     Neonatal 17-OHP Screen

●     Adrenal Hyperplasia Metabolic Screen

●     CYP21A2 Deficiency Newborn Screen