Pediatric Endocrinology Diabetes and Metabolism
en POLSKI
eISSN: 2083-8441
ISSN: 2081-237X
Pediatric Endocrinology Diabetes and Metabolism
Current issue Archive Manuscripts accepted About the journal Supplements Editorial board Reviewers Abstracting and indexing Subscription Contact Instructions for authors Publication charge Ethical standards and procedures
Editorial System
Submit your Manuscript
SCImago Journal & Country Rank
Search
Editorial Policies
Sarajevo Declaration on Integrity and Visibility of Scholarly Publications

Open access

without publication fees

Journal integrated with

integrated with publons
Share:
Send email
Share:
Original paper

Lessons learned from newborn screening for congenital adrenal hyperplasia in Poland: a single-center experience and literature overview

Zuzanna Gawlik
1, 2
,
Maria Ginalska-Malinowska
3
,
Anna Siejka
4
,
Jakub Gawlik
5
,
Jerzy Starzyk
1, 2
,
Dominika Małgorzata Januś
1, 2

  1. Department of Pediatric and Adolescent Endocrinology, University Children Hospital in Krakow, Poland
  2. Department of Pediatric and Adolescent Endocrinology, Chair of Pediatrics, Institute of Pediatrics, Jagiellonian University Medical College, Krakow, Poland
  3. Department of Screening and Metabolic Diagnostics, Institute of Mother and Child, Warsaw, Poland
  4. Clinical Biochemistry Department, The Children’s Memorial Health Institute, Warsaw, Poland
  5. Department of Dermatology, Specialist Hospital, Jaslo, Poland
Pediatr Endocrinol Diabetes Metab 2026; 32
DOI: https://doi.org/10.5114/pedm.2026.159589
Online publish date: 2026/03/26
Article file
- 0425_Lessons learned.pdf  [1.00 MB]
Get citation
 
PlumX metrics:
 
1. Van der Grinten HLC, Speiser PW, Faisal Ahmed S, et al. Congenital adrenal hyperplasia – current insights in pathophysiology, diagnostics, and management. Endocr Rev 2022; 43: 91–159. doi: 10.1210/endrev/bnab016.
2. Storbeck KH, Schiffer L, Baranowski ES, et al. Steroid metabolome analysis in disorders of adrenal steroid biosynthesis and metabolism. Endocr Rev 2019; 40: 1605–1625. doi: 10.1210/er.2018-00262.
3. Nimkarn S, Gangishetti PK, Yau M, et al. 21-hydroxylase-deficient congenital adrenal hyperplasia. In: Adam MP, Feldman J, Mirzaa GM, et al., eds. GeneReviews®. Seattle (WA): University of Washington; 1993–2024.
4. El-Maouche D, Arlt W, Merke DP. Congenital adrenal hyperplasia. Lancet 2017; 390: 2194–2210. doi: 10.1016/S0140-6736(17)31431-9.
5. Lajic S, Karlsson L, Zetterström RH, et al. The success of a screening program is largely dependent on close collaboration between the laboratory and the clinical follow-up of the patients. Int J Neonatal Screen 2020; 6: 68. doi: 10.3390/ijns6030068.
6. Held PK, Bird IM, Heather NL. Newborn screening for congenital adrenal hyperplasia: review of factors affecting screening accuracy. Int J Neonatal Screen 2020; 6: 67. doi: 10.3390/ijns6030067.
7. White PC. Neonatal screening for congenital adrenal hyperplasia. Nat Rev Endocrinol 2009; 5: 490–498. doi: 10.1038/nrendo.2009.148.
8. Heather NL, Nordenstrom A. Newborn screening for CAH – challenges and opportunities. Int J Neonatal Screen 2021; 7: 11. doi: 10.3390/ijns7010011.
9. Pang S, Hotchkiss J, Drash AL, et al. Microfilter paper method for 17 alpha-hydroxyprogesterone radioimmunoassay: its application for rapid screening for congenital adrenal hyperplasia. J Clin Endocrinol Metab 1977; 45: 1003–1008. doi: 10.1210/jcem-45-5-1003.
10. Ginalska-Malinowska M. Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency – the next disease included in the neonatal screening program in Poland. Dev Period Med 2018; 22: 197–200. doi: 10.34763/devperiodmed.20182202.197200.
11. Banaszak-Ziemska M, Małecka E, Łacna K, et al. Moderate congenital adrenal hyperplasia in two girls diagnosed by newborn screening. Pediatr Endocrinol Diabetes Metab 2021; 27: 291–297. doi: 10.5114/pedm.2021.109123.
12. Ołtarzewski M. Badania przesiewowe noworodków w Polsce, 2018 rok. Postępy Neonatologii 2018; 24: 111–122. doi: 10.31350/postepyneonatologii/2018/2/PN2018025.
13. Van der Kamp HJ, Wit JM. Neonatal screening for congenital adrenal hyperplasia. Eur J Endocrinol 2004; 151 Suppl 3: U71–U75. doi: 10.1530/eje.0.151u071.
14. Suwanlikit Y, Panthan B, Chitayanan P, et al. Nationwide carrier screening for congenital adrenal hyperplasia: integrated approach of CYP21A2 pathogenic variant genotyping and comprehensive large gene deletion analysis. BMC Med Genomics 2025; 18: 18. doi: 10.1186/s12920-025-02089-5.
15. Nowak Z, Preizner-Rzucidło E, Gawlik J, et al. Primary adrenal insufficiency, complete sex reversal, and unique clinical phenotype in a patient with severe CYP11A1 (P450scc) deficiency – case report and literature overview. Children (Basel) 2024; 11: 1231. doi: 10.3390/children11101231.
16. Pang S, Shook MK. Current status of neonatal screening for congenital adrenal hyperplasia. Curr Opin Pediatr 1997; 9: 419–423. doi: 10.1097/00008480-199708000-00018.
17. Speiser PW, Arlt W, Auchus RJ, et al. Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab 2018; 103: 4043–4088. doi: 10.1210/jc.2018-01865.
18. Navardauskaitė R, Banevičiūtė K, Songailienė J, et al. Impact of newborn screening on clinical presentation of congenital adrenal hyperplasia. Medicina (Kaunas) 2021; 57: 1035. doi: 10.3390/medicina57101035.
19. Fox DA, Ronsley R, Khowaja AR, et al. Clinical impact and cost efficacy of newborn screening for congenital adrenal hyperplasia. J Pediatr 2020; 220: 101–108.e2. doi: 10.1016/j.jpeds.2019.12.057.
20. Tsuji-Hosokawa A, Kashimada K. Thirty-year lessons from the newborn screening for congenital adrenal hyperplasia (CAH) in Japan. Int J Neonatal Screen 2021; 7: 36. doi: 10.3390/ijns7030036.
21. Coulm B, Coste J, Tardy V, et al. Efficiency of neonatal screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency in children born in mainland France between 1996 and 2003. Arch Pediatr Adolesc Med 2012; 166: 113–120. doi: 10.1001/archpediatrics.2011.774.
22. Gidlöf S, Wedell A, Guthenberg C, et al. Nationwide neonatal screening for congenital adrenal hyperplasia in Sweden: a 26-year longitudinal prospective population-based study. JAMA Pediatr 2014; 168: 567–574. doi: 10.1001/jamapediatrics.2013.5321.
23. Dörr HG, Wollmann HA, Hauffa BP, et al. Mortality in children with classic congenital adrenal hyperplasia and 21-hydroxylase deficiency (CAH) in Germany. BMC Endocr Disord 2018; 18: 37. doi: 10.1186/s12902-018-0263-1.
24. De Miranda MC, Haddad LBP, Trindade E, et al. The cost-effectiveness of congenital adrenal hyperplasia newborn screening in Brazil: a comparison between screened and unscreened cohorts. Front Pediatr 2021; 9: 659492. doi: 10.3389/fped.2021.659492.
25. Hird BE, Tetlow L, Tobi S, et al. No evidence of an increase in early infant mortality from congenital adrenal hyperplasia in the absence of screening. Arch Dis Child 2014; 99: 158–164. doi: 10.1136/archdischild-2013-304473.
26. Gau M, Konishi K, Takasawa K, et al. The progression of salt wasting and the body weight change during the first two weeks of life in classical 21-hydroxylase deficiency patients. Clin Endocrinol (Oxf) 2020; 94: 229–236. doi: 10.1111/cen.14312.
27. Messina V, Karlsson L, Hirvikoski T, et al. Cognitive function of children and adolescents with congenital adrenal hyperplasia: importance of early diagnosis. J Clin Endocrinol Metab 2020; 105: e683–e691. doi: 10.1210/clinem/dgaa016.
28. Cutfield WS, Webster D. Newborn screening for congenital adrenal hyperplasia in New Zealand. J Pediatr 1995; 126: 118–121. doi: 10.1016/s0022-3476(95)70513-9.
29. Heather NL, Seneviratne SN, Webster D, et al. Newborn screening for congenital adrenal hyperplasia in New Zealand, 1994–2013. J Clin Endocrinol Metab 2015; 100: 1002–1008. doi: 10.1210/jc.2014-3168.
30. Thilén A, Nordenström A, Hagenfeldt L, et al. Benefits of neonatal screening for congenital adrenal hyperplasia (21-hydroxylase deficiency) in Sweden. Pediatrics 1998; 101: E11. doi: 10.1542/peds.101.4.e11.
31. Brosnan CA, Brosnan P, Therrell BL, et al. A comparative cost analysis of newborn screening for classic congenital adrenal hyperplasia in Texas. Public Health Rep 1998; 113: 170–178.
32. Kopacek C, Prado MJ, da Silva CMD, et al. Clinical and molecular profile of newborns with confirmed or suspicious congenital adrenal hyperplasia detected after a public screening program implementation. J Pediatr (Rio J) 2019; 95: 282–290. doi: 10.1016/j.jped.2018.03.003.
33. Liu SY, Lee CT, Tung YC, et al. Clinical characteristics of Taiwanese children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency detected by neonatal screening. J Formos Med Assoc 2018; 117: 126–131. doi: 10.1016/j.jfma.2017.03.008.
34. Sanz Fernández M, Mora Sitja M, Carrascón González-Pinto L, et al. Assessment of the degree of clinical suspicion of 21-hydroxylase deficiency prior to the newborn screening result. Horm Metab Res 2023; 55: 528–535. doi: 10.1055/a-2111-6571.
35. Odenwald B, Dörr HG, Bonfig W, et al. Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency: 13 years of neonatal screening and follow-up in Bavaria. Klin Padiatr 2015; 227: 278–283. doi: 10.1055/s-0035-1554639.
36. Seneviratne SN, Sandakelum U, Jayawardena CH, et al. Presenting status of children with classical congenital adrenal hyperplasia over two decades (1999–2018) in the absence of newborn screening in Sri Lanka. J Pediatr Endocrinol Metab 2021; 34: 1131–1137. doi: 10.1515/jpem-2020-0681.
37. Güran T, Tezel B, Çakır M, et al. Neonatal screening for congenital adrenal hyperplasia in Turkey: outcomes of extended pilot study in 241,083 infants. J Clin Res Pediatr Endocrinol 2020; 12: 287–294. doi: 10.4274/jcrpe.galenos.2020.2019.0182.
38. Gawlik Z, Preizner-Rzucidło E, Kaleta K, et al. Diagnostic and therapeutic pitfalls in the management of pediatric patients with 3b-hydroxysteroid dehydrogenase type 2 (3b-HSD2) deficiency – a single center experience. Front Endocrinol (Lausanne) 2025; 16: 1642051. doi: 10.3389/fendo.2025.1642051.
39. Gawlik Z, Kaleta K, Wróblewska M, et al. Aldosterone synthase deficiency due to homozygous CYP11B2 pathogenic variant with coexisting celiac disease: a case study and literature review. Pediatr Endocrinol Diabetes Metab 2025; 31: 133–140. doi: 10.5114/pedm.2025.155104.


Termedia
About us Contact
Copyright notice Privacy policy Advertising policy Contact us
Quick links
Journals Books eBooks Events
© 2026 Termedia Sp. z o.o.
Developed by Termedia.