Search results
Results From The WOW.Com Content Network
Measurement of 17α-OHP by LC-MS/MS improves newborn screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency, because 17α-OHP steroid precursors and their sulphated conjugates which are present in the first two days after birth and longer in pre-term neonates, cross-react in immunoassays with 17α-OHP, giving falsely high ...
This test detects elevated levels of 17α-hydroxyprogesterone (17-OHP). Detecting high levels of 17-OHP enables early detection of CAH. Newborns detected early enough can be placed on medication and live relatively normal lives. [citation needed] The screening process, however, is characterized by a high false-positive rate.
For the newborn screening, levels of 17α-hydroxyprogesterone (17OHP) are typically measured against predetermined cutoff, which depends on the measurement method. [163] [57] While the 17OHP level is easy to measure and sensitive (rarely missing real cases), the test has a poorer specificity, giving high rates of false positives. [167]
An expected second 17,20-lyase reaction (17α-hydroxyprogesterone → androstenedione) is mediated so inefficiently in humans as to be of no known significance. The hydroxylase reactions are part of the synthetic pathway to cortisol as well as sex hormones, but the lyase reaction is only necessary for sex hormone synthesis.
Randomly timed measurements of 17-OHP have not been shown to be useful for screening since they are often normal and are known to be very high in the luteal phase of the female menstrual cycle. After basal levels have been measured, confirmation is done by administering ACTH, and comparing 17-OHP pre and post test. 17-OHP levels over 10 ng/mL ...
Newborn screening programs initially used screening criteria based largely on criteria established by JMG Wilson and F. Jungner in 1968. [6] Although not specifically about newborn population screening programs, their publication, Principles and practice of screening for disease proposed ten criteria that screening programs should meet before being used as a public health measure.
In fetus, excess of androgens due to excess of fetal 17OHP in CAH may contribute to DHT synthesis that leads to external genital virilization in newborn girls with CAH. [41] [57] [58] [59] P4 levels may also be elevated in CAH, [59] leading to androgen excess via the backdoor pathway from P4 to DHT.
The following disorders are additional conditions that may be detected by screening. Many are listed as "secondary targets" by the 2005 ACMG report. [1] Some states are now screening for more than 50 congenital conditions. Many of these are rare and unfamiliar to pediatricians and other primary health care professionals. [1] Blood cell disorders