Newborn screening-detected 21-hydroxylase deficiency: growth pattern is not associated with the genotype

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064173%3A_____%2F24%3A43920096" target="_blank" >RIV/00064173:_____/24:43920096 - isvavai.cz</a>

Alternative codes found

RIV/00216208:11120/24:43920096 RIV/00216208:11130/24:10412703 RIV/00064203:_____/24:10412703

Result on the web

<a href="https://doi.org/10.23736/S0026-4946.20.05795-3" target="_blank" >https://doi.org/10.23736/S0026-4946.20.05795-3</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.23736/S2724-5276.20.05795-3" target="_blank" >10.23736/S2724-5276.20.05795-3</a>

Result language

angličtina

Original language name

Newborn screening-detected 21-hydroxylase deficiency: growth pattern is not associated with the genotype

Original language description

BACKGROUND: Normalising growth in children with congenital adrenal hyperplasia due to 21- hydroxylase deficiency (21OHD-CAH) requires a long-term maintenance of a fragile balance between hydrocortisone (HC) replacement and androgen suppression. The growth pattern inchildren with 21OHD-CAH diagnosed by clinical symptoms has been evaluated in numerous retrospective studies. The aim of this study was to evaluate growth of patients with 21OHD-CAH detected by newborn screening (NBS), prior to clinical symptoms. METHODS: Nation-wide NBS for 21OHD-CAH was implemented in the Czech Republic in 2006. Since then, 1,317,987 neonates were screened (2006-2017) and 21OHD-CAH was confirmed in 108 patients. Growth was evaluated as height-standard deviation score (SDS) at regular time-points, related to bone age and compared to recent population standards. In 88 patients, available data allowed long-term evaluation of growth, HC and fludrocortisone doses (in half-year intervals), with a median observation period of ten years. RESULTS: Body height in affected children was shorter between years 1-9 of life with a nadir at age 1-3 years. Their height did not differ from general population at the age 10-12 years. There were not found differencies according to 21OHD-CAH severity. CONCLUSIONS: NBS is an effective secondary prevention tool for the early detection of 21OHD-CAH which improves growth patterns. A significant growth deceleration was observed during infancy and early childhood periods but with following height normalization. Growth pattern was not associated with the genotype of 21OHD, if patients have been detected by NBS.

Czech name

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Czech description

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Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

—

OECD FORD branch

30209 - Paediatrics

Project

—

Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2024

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Minerva Pediatrics

ISSN

2724-5276

e-ISSN

2724-5780

Volume of the periodical

76

Issue of the periodical within the volume

1

Country of publishing house

IT - ITALY

Number of pages

6

Pages from-to

24-29

UT code for WoS article

001184737300001

EID of the result in the Scopus database

2-s2.0-85185614323