RESUMO
BACKGROUND: Newborn screening (NBS) program is a simple and inexpensive method for early detection and treatment of over forty conditions as of 2005. Most cases of congenital hypothyroidism (CH) are sporadic and occurs in 1 in 3500 live births. Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders that occurs in 1 in 1600 live births. The detection of CH is determined by either low T4 and/or elevated TSH and the detection of CAH is determined by elevated 17OH progesterone on Guthrie filter paper. Infants who meet the above criteria on NBS for either condition must undergo confirmatory testing. OBJECTIVE: Is the incidence of CH and CAH at FHMC, a community hospital in northern Queens, New York serving a multiethnic population different from theincidence of CH and CAH in New York State (NYS)? DESIGN/METHODS: We reviewed records of the infants recalled and confirmed to have CH and CAH for 2000, 2001 and 2004 and compared with reported incidence of the same conditions in NYS. RESULTS: The total number of live births in NYS was 760,112 and in FHMC 6348 for the three years studied, accounting for 0.7 to 0.8% of total NYS live births. The population served by FHMC included 43% White, 35% Asian, 16% Hispanic, 3% Afro-American and 3% other. A total of 5 patients were identified to have CH in the three years studied, accounting for an incidence of 0.12 (p > 0.05). Three patients were identified to have CAH in 2004 or an incidence of 1.4 (p < 0.05). [Table 1]. CONCLUSIONS: The incidence rate of CH was similar to that of NYS. However, the incidence rate of CAH at FHMC was greater than that reported by NYS. This difference in incidence rate for CAH may be related to the ethnic composition of the population that FHMC serves. Pediatricians and pediatric endocrinologists must be cognizant of the signs and symptoms of CAH in certain populations known to have higher incidence for this condition. Further follow up of incidence rate for CAH at FHMC is indicated since CAH was added to the NBS in 2003.