Pediatr. praxi. 2025;26(6):402-404 | DOI: 10.36290/ped.2025.077

Emma versus Emanuel

MUDr. Martin Gregora
Dětské oddělení, Nemocnice Strakonice, a. s.

Congenital adrenal hyperplasia belnogs to diseases screened by newborn laboratory screening. Without early diagnosis it is a serious disease with a risk of sudden death in infancy. The negative screening result should not, however, exclude it from our differential diagnostic considerations. Case reports confirm the rule that a negative screening does not exclude the disease.

Keywords: congenital adrenal hyperplasia, non-classical form, clinical presentation.

Accepted: December 10, 2025; Published: December 15, 2025  Show citation

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Gregora M. Emma versus Emanuel. Pediatr. praxi. 2025;26(6):402-404. doi: 10.36290/ped.2025.077.
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    References

    1. Lébl J, Al Taji E, Kolouškova S, et al. Dětská endokrinologie a diabetologie. Galén, 2016.
    2. Pomahačová R, Kalvachová B. Dětská endokrinologie. Mladá fronta 2013.
    3. Herrmann F, Muller P, Lohmann T, et al. Endokrinologie pro praxi. Grada 2020.
    4. Votava F, Novotna D, Kracmar P, et al. Lessons learned from 5 years of newborn screening for congenital adrenal hyperplasia in the Czech Republic: 17-hydroxyprogesterone, genotypes, and screening performance. Eur J Pediatr. 2012;171:935-940. https://doi.org/10.1007/s00431-011-1656-6. Go to original source... Go to PubMed...

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