Generate QR code
Open Access
Subscription Access
Results of neonatal screening for congenital adrenal hyperplasia in Krasnodar region
https://doi.org/10.25557/2073-7998.2025.07.129-131
Abstract
In Krasnodar region, neonatal screening (NS) for congenital adrenal hyperplasia (CAH) has been carried out since 01.06.06. In connection with the transition in 2023 to early blood sampling in newborns (the first 24-48 hours instead of 4-5 days of life), the assessment of the NS results for CAH was of interest. Over 24 years, 1,145,400 newborns were examined, 119 children with CAH were identified (1:9625). The 17OHP level above the threshold was determined in 1.4% of newborns. In 2023, the number of children who needed a retest increased to 2.1%. According to the NS data, in 2023-2024, the threshold level of 17OHP for newborns examined in 24-48 hours of life, increased by 4 nmol/l. The evaluation of the NS results with this threshold level in 2024 led to a decrease in the retest to 1.1%. In children with CAH, 3 common mutations of the CYP21A2 gene were detected: E3del (23.5%), I2spl (21.8%), I172N (16.8%). Changing the timing of newborn examination during NS requires monitoring the threshold levels of 17OHP to prevent unjustified retests.
About the Authors
E. O. Shumlivaya
Scientific Research Institute – Ochapovsky Regional Clinical Hospital No. 1, Krasnodar of the Ministry of Health of the Krasnodar region
Russian Federation
Russian Federation
167,1st. May st., Krasnodar, 350086
T. A. Golikhina
Scientific Research Institute – Ochapovsky Regional Clinical Hospital No. 1, Krasnodar of the Ministry of Health of the Krasnodar region
Russian Federation
Russian Federation
167,1st. May st., Krasnodar, 350086
S. A. Matulevich
Scientific Research Institute – Ochapovsky Regional Clinical Hospital No. 1, Krasnodar of the Ministry of Health of the Krasnodar region
Russian Federation
Russian Federation
167,1st. May st., Krasnodar, 350086
References
1. Melnichenko G.A., Troshina E.A., Molashenko N.V. et al. Klinicheskiye rekomendatsii Rossiyskoy assotsiatsii endokrinologov po diagnostike i lechebno-profilakticheskim meropriyatiyam pri vrozhdennoy disfunktsii kory nadpochechnikov u patsiyentov vo vzroslom vozraste [Russian Association of Endocrinologists clinical practice guidelines for diagnosis, treatment and preventive measures in congenital adrenal hyperplasia due to 21-hydroxylase deficiency patients in adulthood]. Consilium Medicum. 2016; 18 (4): 8–19. (In Russ.)
2. Kareva M.A., Chugunov I.S. Federal’nyye klinicheskiye rekomendatsii – protokoly po vedeniyu patsiyentov s vrozhdennoy disfunktsiyey kory nadpochechnikov v detskom vozraste [Federal clinical practice guidelines on the management of the patients presenting with congenital adrenal hyperplasia]. Problemy endokrinologii [Problems of Endocrinology]. 2014;60(2):42-50. (In Russ.)
3. Shumlivaya E.O., Golihina T.A., Matulevich S.A. et al. Ispol’zovaniye komp’yuternoy programmy dlya optimizatsii provedeniya neonatal’nogo skrininga [Using a computer program to optimize neonatal screening]. Genetika cheloveka i patologiya: Sb. nauch. Trudov [Human genetics and pathology: Collection of research papers]. Tomsk. 2004;7:286-290. (In Russ.)
Review
For citations:
Shumlivaya E.O., Golikhina T.A., Matulevich S.A. Results of neonatal screening for congenital adrenal hyperplasia in Krasnodar region. Medical Genetics. 2025;24(7):129-131. (In Russ.) https://doi.org/10.25557/2073-7998.2025.07.129-131
Views:
6
Email this article 