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

Kód výsledku v 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>

Nalezeny alternativní kódy

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

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

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

Popis výsledku v původním jazyce

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.

Název v anglickém jazyce

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

Popis výsledku anglicky

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.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30209 - Paediatrics

Projekt

—

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2024

Kód důvěrnosti údajů

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

Název periodika

Minerva Pediatrics

ISSN

2724-5276

e-ISSN

2724-5780

Svazek periodika

76

Číslo periodika v rámci svazku

1

Stát vydavatele periodika

IT - Italská republika

Počet stran výsledku

6

Strana od-do

24-29

Kód UT WoS článku

001184737300001

EID výsledku v databázi Scopus

2-s2.0-85185614323