PMID- 16227036
OWN - NLM
STAT- MEDLINE
DCOM- 20051201
LR  - 20131121
IS  - 0022-3476 (Print)
IS  - 0022-3476 (Linking)
VI  - 147
IP  - 4
DP  - 2005 Oct
TI  - Newborn screening for congenital adrenal hyperplasia has reduced sensitivity in 
      girls.
PG  - 493-8
AB  - OBJECTIVES: To characterize Wisconsin-born infants with 21-hydroxylase 
      deficiency-congenital adrenal hyperplasia (21-OH-D-CAH) who were not identified 
      by the newborn screening for 21-OH-D-CAH, and to examine male and female 
      screening 17-hydroxyprogesterone (17-OHP) levels. STUDY DESIGN: Information on 
      infants with false-negative results was gathered. Results of the Wisconsin 
      newborn screening for 21-OH-D-CAH from January 1, 2000, to June 30, 2003, were 
      analyzed to detect possible differences between male (n=119,842) and female 
      (n=114,951) infants. RESULTS: Six of 7 female infants with false-negative results 
      had genital masculinization, and 4 of 8 infants with false-negative results had 
      laboratory evidence of salt-wasting. None died, had a salt-wasting crisis, or was 
      assigned the wrong sex. A significant difference in the mean 17-OHP levels 
      between male (17.5 ng/mL) and female (15.4 ng/mL) infants (P <.0001) was 
      detected. The sensitivity of newborn screening for female infants was 60%, 
      compared with 80% for male infants. CONCLUSIONS: Male and female infants have 
      significantly different mean 17-OHP levels on newborn screening, and female 
      infants comprise most of the infants with false-negative results. Although health 
      professionals should not assume that newborn screening for 21-OH-D-CAH is a means 
      of identifying all affected infants, the primary goals of newborn screening for 
      CAH (prevention of salt-wasting crises and sex misassignment) are fulfilled.
FAU - Varness, Todd S
AU  - Varness TS
AD  - Department of Pediatrics, University of Wisconsin Children's Hospital, Madison, 
      Wisconsin 53792-4108, USA.
FAU - Allen, David B
AU  - Allen DB
FAU - Hoffman, Gary L
AU  - Hoffman GL
LA  - eng
PT  - Journal Article
PL  - United States
TA  - J Pediatr
JT  - The Journal of pediatrics
JID - 0375410
RN  - 68-96-2 (17-alpha-Hydroxyprogesterone)
RN  - 9NEZ333N27 (Sodium)
RN  - RWP5GA015D (Potassium)
SB  - IM
CIN - J Pediatr. 2006 Sep;149(3):427-8. PMID: 16939770
MH  - 17-alpha-Hydroxyprogesterone/*blood
MH  - Adrenal Hyperplasia, Congenital/*blood/complications/*diagnosis
MH  - False Positive Reactions
MH  - Female
MH  - Humans
MH  - Infant
MH  - Infant, Newborn
MH  - Male
MH  - *Neonatal Screening
MH  - Potassium/blood
MH  - Predictive Value of Tests
MH  - Sex Factors
MH  - Sodium/blood
MH  - Virilism/etiology
MH  - Wisconsin
EDAT- 2005/10/18 09:00
MHDA- 2005/12/13 09:00
CRDT- 2005/10/18 09:00
PHST- 2004/10/21 00:00 [received]
PHST- 2005/02/10 00:00 [revised]
PHST- 2005/04/14 00:00 [accepted]
PHST- 2005/10/18 09:00 [pubmed]
PHST- 2005/12/13 09:00 [medline]
PHST- 2005/10/18 09:00 [entrez]
AID - S0022-3476(05)00344-6 [pii]
AID - 10.1016/j.jpeds.2005.04.035 [doi]
PST - ppublish
SO  - J Pediatr. 2005 Oct;147(4):493-8. doi: 10.1016/j.jpeds.2005.04.035.