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Ten-year evaluation of a Neonatal Screening Program for congenital adrenal hyperplasia
Marilza Leal Nascimento1, Anísia Nhelety Baptista Cristiano2, Tatiane de Campos1
1Endocrine Pediatric Department, Hospital Infantil Joana de Gusmão, Florianópolis, SC, Brazil.
Insights
The Neonatal Screening Program (NSP) for congenital adrenal hyperplasia (CAH) diagnosed 50 cases, with an incidence of 1:14,967. Delayed sample collection impacted treatment onset for CAH newborns.
Area of Science:
- Pediatrics
- Endocrinology
- Public Health
Background:
- Congenital adrenal hyperplasia (CAH) is a group of genetic disorders affecting the adrenal glands.
- Neonatal screening programs are crucial for early detection and management of CAH.
- The Neonatal Screening Program of the State of Santa Catarina (NSP-SES/SC) aims to identify CAH in newborns.
Purpose of the Study:
- To evaluate the effectiveness of the NSP-SES/SC for congenital adrenal hyperplasia (CAH).
- To identify areas for improvement within the NSP-SES/SC.
- To report on the incidence and clinical presentation of CAH in Santa Catarina.
Main Methods:
- A descriptive, retrospective study analyzed data from 748,395 screened children between January 2001 and December 2010.
- Key metrics included program coverage, CAH prevalence, age at first 17-hydroxyprogesterone (17OHP) sample collection, 17OHP levels, age at treatment initiation, and clinical manifestations.
- Data from the NSP-SES/SC were examined.
Main Results:
- The NSP-SES/SC achieved 89% coverage of live newborns in the state.
- Fifty cases of CAH were diagnosed, resulting in an incidence of 1:14,967.
- The mean age for the first 17OHP sample collection was 7.3 days, with a mean 17OHP level of 152.9 ng/mL. The salt-wasting form was prevalent in 74% of cases.
Conclusions:
- The incidence of CAH in Santa Catarina is approximately 1 in 14,967 live births.
- Early diagnosis and treatment initiation were suboptimal due to delayed first sample collection.
- Improvements in the NSP-SES/SC are needed to ensure timely management of CAH.
Objective:
Evaluate the Neonatal Screening Program (NSP) for congenital adrenal hyperplasia (CAH) of the Department of Health of the State of Santa Catarina (Secretaria de Estado da Saúde de Santa Catarina, SES/SC), and provide information to improve the program.
Subjects And Methods:
Descriptive, retrospective study of 748,395 children screened between January 2001 and December 2010. We analyzed the coverage of the NSP-SES/SC prevalence of CAH, child's age when the first sample for 17-hydroxyprogesterone (17OHP) measurement was collected, levels of 17OHP, mean age at treatment onset and main clinical manifestations.
Results:
The NSP-SES/SC covered 89% of the live newborns in the State. It diagnosed 50 cases of CAH, yielding an incidence of 1:14,967. Mean age at collection of the first sample was 7.3 days and mean level of 17OHP was 152.9 ng/mL. The most frequent manifestations were virilized genitalia with nonpalpable gonads, clitoromegaly and genital hyperpigmentation. In three girls, the genre established at birth was incorrect. The salt-wasting form was present in 74% of the cases. There was no occurrence of shock or death. Mean age at treatment onset in the salt-wasting form was 17.4 days compared with 54.9 days in those without the salt-wasting form of the disease. All children were treated with hydrocortisone, and those with salt-wasting CAH were also treated with fludrocortisone.
Conclusions:
The incidence of CAH was 1 case to 14,967 live newborns. Collection of the first sample occurred outside the recommended time, resulting in delays in treatment onset.
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