ABSTRACT
OBJECTIVE: To evaluate the efficacy and efficiency of newborn screening for classic congenital adrenal hyperplasia (CAH) in New Zealand. DESIGN: All infants younger than 6 weeks of age identified by newborn screening between December 1984 and December 1993 were included. RESULTS: 23 cases of classic CAH (20 salt-losers) were identified. The incidence of classic CAH was 1 in 23,344. Screening identified 3 of 9 virilized female infants whose disease had not been detected clinically. Screening alone identified all 11 male infants. Notification of cases occurred at 11 +/- 3 days of age. There was a delay in treatment of the group identified by screening alone (n = 14) until 13 days of age (range, 4 to 35 days); at that time 11 infants had hyponatremia and 10 had hyperkalemia. Symptoms of vomiting, poor feeding, and shock were common after 10 days of age (2/10, < 10 days, and 8/8, 11 to 16 days of age). CONCLUSIONS: Newborn CAH screening is the only method of identifying male infants with classic CAH without a family history of CAH before symptoms develop, as well as a significant portion of overlooked virilized female infants. So that clinical or significant biochemical deterioration can be avoided, pediatrician notification of screening results and treatment should be started before 10 days of age.
Subject(s)
Adrenal Hyperplasia, Congenital/diagnosis , Neonatal Screening , Adrenal Hyperplasia, Congenital/epidemiology , Female , Health Promotion , Humans , Hyperkalemia/diagnosis , Hyponatremia/diagnosis , Incidence , Infant , Infant, Newborn , Male , Neonatal Screening/economics , New Zealand/epidemiology , Severity of Illness Index , Virilism/diagnosisABSTRACT
To assess the role of growth hormone in fetal and infant growth, we analyzed the pretreatment data on 52 patients with a diagnosis of congenital growth hormone deficiency before 2 years of age, obtained from the Kabi Pharmacia International Growth Study. These infants had reduced birth-length standard deviation scores, an excess of birth weight relative to length, and progressive growth failure. We conclude that congenital growth hormone deficiency may cause impaired growth in utero and early infancy, and that growth hormone plays an important role in perinatal and infantile growth.