Characteristics of Patients with Classic Congenital Adrenal Hyperplasia Missed on the Newborn Screen
Authors' conclusion
Nearly one-fifth of our patients with classic CAH were missed on the NBS. No specific features were identified that distinguished these children from those who were detected at birth. It is critical to maintain a high index of suspicion for CAH in order to recognize these patients as early as possible so as to avoid adverse effects and potential life-threatening adrenal crises.
Study context
- Population
- Children with classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency seen at Riley Hospital for Children, Indiana, January 2005–December 2020
- Participants
- 64 children
- Exposure
- Classic CAH missed on newborn screen (NBS) vs diagnosed on NBS
- Missed on NBSn = 12
- Outcome
- Patients with classic CAH missed on the NBS
Methodological detailssingle-centre, medical record review
- Single-centre
- Medical record review
Main finding
As reported in the abstract
- Missed on the NBS
- 12 (19%) of 64
- Mean age at diagnosis (missed)
- 21.7 months (range: 2-74 months)
- Girls (missed)
- 67%
- Salt-wasting CAH (missed)
- 66%
- Clinical evidence of hyperandrogenism (missed)
- Eight (67%)
- Genetic confirmation (missed)
- 50%
- Positive family history of CAH (missed)
- 42%
Observational data: associations, not effects.
Further findings
Serum 17OHP at diagnosis
P = 0.74
Testosterone at diagnosis · lower in missed patients
P = 0.02
- Timing of NBS collection · not different
- P = 0.36
Serum 17OHP at diagnosis
- No differences in sex, ethnicity, gestational age, birth weight or type of CAH
Original publication
Characteristics of Patients with Classic Congenital Adrenal Hyperplasia Missed on the Newborn Screen. Horm Res Paediatr. Published 22 November 2023. doi:10.
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