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Cited by 12Sexual Differentiation and DisordersAdrenal Hormones and DisordersMetabolism and Genetic Disorders

The DOI matches its Crossref record.

Classical Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency in Croatia between 1995 and 2006

Dumic, Katja, Krnic, Nevena, Skrabic, Veselin, Stipancic, Gordana, Cvijovic, Katarina, Kusec, Vesna, Stingl, Katarina·2009·Hormone Research in Paediatrics
DOI 10.1159/000245933
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Abstract

Aims: To evaluate the incidence, gender, symptoms and age at diagnosis among patients with classical congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency in Croatia. Methods: Data were collected retrospectively for all classical CAH patients born or electively aborted following prenatal diagnosis between 01.01.1995 and 31.12.2006 and were compared with the data of the previously conducted study evaluating CAH patients discovered between 1964 and 1984. Results: During a 12-year period, 34 classical CAH patients were born. There were 20 salt-wasting (SW) (12 females/8 males) and 14 simple virilizing (SV) patients (7 females/7 males). If 3 female fetuses, electively aborted, were added, that would be a total of 37 CAH patients. With 532,942 live births and 34 CAH patients born over this period, incidence of classical CAH was estimated to 1:15,574 or 1:14,403 if 3 electively aborted fetuses were included. The lower incidence of SW boys compared to SW girls (8:12) and similar number of SW and SV boys (8:7) indicate that substantial proportion of SW boys die unrecognized. Owing to better health care, diagnosis was established significantly earlier in SW and SV girls compared to the period of 1964–1984 (p < 0.003). During 1995–2006, none of the patients died following the diagnosis of CAH, and there was no erroneous sex assignment. Conclusion: Despite of improvement in health care, diagnosis of CAH in Croatia is still delayed and some of the patients go unrecognized or die. Therefore, we think that the results of our study support the need for the introduction of newborn screening.

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Research works printed but not linked: 9

  1. 10.1196%2Fannals.1315.009 · DOI · Paper page
  2. 10.1542%2Fpeds.2006-1783 · DOI
  3. 10.1210%2Fjc.86.7.2958 · DOI · Paper page
  4. 10.1007%2Fs00431-003-1311-y · DOI
  5. 10.1016%2FS0022-3476%2898%2970060-5 · DOI · Paper page
  6. 10.1159%2F000082896 · DOI · Paper page
  7. 10.1111%2Fj.1651-2227.1990.tb11434.x · DOI
  8. 10.1159%2F000185500 · DOI
  9. 10.1111%2Fj.1651-2227.1997.tb08824.x · DOI

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Metadata

Authors
Dumic, K., Krnic, N., Skrabic, V., Stipancic, G., Cvijovic, K., Kusec, V., & Stingl, K.
Affiliations
University Hospital Centre Zagreb (HR)
Venue
Hormone Research in Paediatrics
Publisher
S. Karger AG
Published
2009
Volume
72
Issue
5
Pages
310-314
ISSN
  • 1663-2818 (ISSN-L)
  • 1663-2826
DOI
10.1159/000245933
OpenAlex
W2917324527
Cited by
12
References
0
Citations by year
2025: 1 · 2023: 2 · 2022: 1 · 2021: 1 · 2019: 2 · 2018: 2 · 2016: 1 · 2013: 1
FWCI
0.13
Type
journal article
Language
en
Open access
closed
Licence
Locations
Hormone Research in Paediatrics (publishedVersion)
Topics
  • Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Sexual Differentiation and Disorders
  • Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
Keywords
classical congenital adrenal hyperplasia, 21-hydroxylase deficiency, incidence, salt-wasting CAH, simple virilizing CAH, prenatal diagnosis, abortion, age at diagnosis, gender assignment, newborn screening, Croatia

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