21-Hydroxylase deficiency: screening and incidence in Israel

Horm Res. 1997;48(3):115-9. doi: 10.1159/000185500.


Background: Neonatal screening for congenital adrenal hyperplasia was introduced in 1977. However, even today only a few national screening programs exist and their cost effectiveness is still debatable. This study was conducted in order to evaluate the advisability of a national or regional screening program in Israel.

Methods: From June 1987 until December 1992 we screened a countrywide random sample of 113,846 newborns for 21-hydroxylase (21-OH) deficiency measuring 17alpha-OH progesterone (17-OHP) from blood spotted on filter paper. Between January 1993 and August 1995 we continued the screening program concentrating on the population of northern Israel. A total of 56,958 newborns were screened. We compared these findings with the incidence of 21-OH deficiency in the total population born in Israel during the years 1986-1991.

Results: In the countrywide screening program, 4 newborns (2 Arabs and 2 Jews) were found to have levels of 17-OHP between 409 and 2,049 nmol/l (2 males and 2 females). This constitutes a low incidence of 1 in 28,462 live births. In the north-Israel screening program 4 newborns (all Arabs) were detected (2 males and 2 females) constituting a much higher incidence of 1 in 14,240 live births. The data obtained from the archives revealed that the incidence of 21-OH deficiency nationwide during the years 1986-1991 was 1:19,000 live births, 1:30,000 for Jews and 1:8,000 for Arabs. The incidence of 21-OH deficiency among Arab newborns in the northern part of the country was as high as 1:5,000 (14:71,130). The female to male (F:M) ratio was 2.6:1 and the ratio of the salt-losing to the simple virilizing variant was 5:1. Two male patients were diagnosed prenatally, 21 patients (17 F and 4 M) during the first month after birth and 6 others subsequently.

Conclusions: The high F:M ratio of 21-OH deficiency in the total population compared to a 1:1 ratio in our random screening programs suggests that 21-OH-deficient male patients in the general population might have been missed or died early due to a salt-losing crisis. The high incidence of this disease in the northern part of the country and especially among the Arabs, suggests that screening in this part of the country, especially among the Arab population, is warranted and might save the lives of some male patients.

MeSH terms

  • Adrenal Hyperplasia, Congenital*
  • Female
  • Humans
  • Incidence
  • Infant, Newborn
  • Israel / epidemiology
  • Male
  • Metabolism, Inborn Errors / epidemiology*
  • Metabolism, Inborn Errors / prevention & control
  • Neonatal Screening