AIM: Despite the high sensitivity of neonatal screening in detecting the classical form of congenital adrenal hyperplasia due to 21-hydroxylase deficiency, one of the unclear issues is identifying asymptomatic children with late onset forms. The aim of this nationwide study was to analyse the association between genotype and screened level of 17-hydroxyprogesterone in patients with the late onset form of 21-hydroxylase deficiency and to quantify false negativity. METHODS: In the Czech Republic, 1,866,129 neonates were screened (2006-2022). Among this cohort, 159 patients were confirmed to suffer from 21-hydroxylase deficiency, employing the 17-hydroxyprogesterone birthweight/gestational age-adjusted cut-off limits, and followed by the genetic confirmation. The screening prevalence was 1:11,737. Another 57 patients who were false negative in neonatal screening were added to this cohort based on later diagnosis by clinical suspicion. To our knowledge, such a huge nationwide cohort of false negative patients has not been documented before. RESULTS: Overall, 57 patients escaped from neonatal screening in the monitored period. All false negative patients had milder forms. Only one patient had simple virilising form and 56 patients had the late onset form. The probability of false negativity in the late onset form was 76.7%. The difference in 17-hydroxyprogesterone screening values was statistically significant (p<0.001) between severe forms (median 478.8 nmol/L) and milder (36.2 nmol/L) forms. Interestingly, the higher proportion of females with milder forms was statistically significant compared with the general population. CONCLUSIONS: A negative neonatal screening result does not exclude milder forms of 21-hydroxylase deficiency during the differential diagnostic procedure of children with precocious pseudopuberty.
- MeSH
- 17-alpha-Hydroxyprogesterone * blood MeSH
- False Negative Reactions MeSH
- Adrenal Hyperplasia, Congenital * diagnosis blood MeSH
- Humans MeSH
- Infant, Newborn MeSH
- Neonatal Screening * methods MeSH
- Steroid 21-Hydroxylase genetics MeSH
- Age of Onset MeSH
- Check Tag
- Humans MeSH
- Male MeSH
- Infant, Newborn MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Geographicals
- Czech Republic MeSH
1. vydání 510 stran : ilustrace (převážně barevné) ; 25 cm
Příručka, která se zaměřuje na difereciální diagnostiku nemocí u dětí. Určeno odborné veřejnosti.; V klinické praxi je nutné umět se uvážlivě a zároveň přiměřeně rychle rozhodovat. Tato dovednost nabývá svého významu zejména při diagnostice pediatrického pacienta, kde čas hraje zásadní roli nejen v akutních situacích, ale vzhledem k vyvíjejícímu se organismu i při neakutních problémech, kdy opoždění diagnózy může neodvratně poškodit pacienta v pozdějším věku. Rozhodovací algoritmy se však nedají komplexně naučit pregraduálně, a i po zahájení lékařské praxe vyžadují určitý čas. Díky této publikaci lze nahlédnout do unikátního přehledu nejčastějších diagnostických problémů z různých pediatrických oblastí, se kterými se pediatr ve své ambulantní nebo nemocniční praxi setkává. Monografie vznikla ve spolupráci mezi vybranými pracovišti 3. lékařské fakulty Univerzity Karlovy, která pečují o děti a mladistvé. Obsah je koncipován stručně a schematicky tak, aby byl nápomocen zejména začínajícím pediatrům a pomohl jim správně a rychle určit diagnózu pacienta. Zájemci z řad odborné veřejnosti tak dostávají do rukou nástroj poznání založený na stovkách odborných publikací doplněný o profesní zkušenosti autorů.
- MeSH
- Diagnosis, Differential MeSH
- Pediatrics MeSH
- Publication type
- Handbook MeSH
- Conspectus
- Pediatrie
- NML Fields
- pediatrie
- NML Publication type
- kolektivní monografie
- MeSH
- Ascites diagnosis etiology MeSH
- Celiac Disease * diagnosis complications MeSH
- Edema * diagnosis etiology classification MeSH
- Infant MeSH
- Humans MeSH
- Nephrolithiasis diagnosis etiology MeSH
- Protein Glutamine gamma Glutamyltransferase 2 analysis MeSH
- Check Tag
- Infant MeSH
- Humans MeSH
- Female MeSH
- Publication type
- Case Reports MeSH
Screening představuje významný preventivní nástroj pediatrie. Svou povahou spadá do prevence sekundární. Zahrnuje celoplošné, pravidelné, ministerstvem zdravotnictví definované (formou vyhlášky či metodického pokynu) screeningy, jmenovitě novorozenecký laboratorní screening, vyhledávání vývojové dysplazie kyčlí, vrozených a získaných sluchových vad, oftalmoskopické vyšetření k odhalení kongenitální katarakty a systém pravidelných preventivních prohlídek praktickým lékařem pro děti a dorost. Existují i další screeningová vyšetření, která však zatím nejsou důsledně celoplošná, například u novorozenců a kojenců ultrazvukové vyšetření vývojových vad urotraktu či vyhledávání kritických srdečních vad měřením saturace krve kyslíkem. Předkládaný článek pojednává o obecné úloze screeningu v pediatrii, jeho principech, metodách a rizicích.
Screening is an important preventive tool of paediatrics and secondary prevention. It includes nation-wide, regular, Ministry of Health-defined (in the form of decree or methodological guidance) screenings, namely neonatal laboratory screening, ultrasound screening for developmental hip dysplasia, congenital deafnees, ophthalmoscopic examination to detect congenital cataracts, and system of regular preventive appointments by a general practitioner for children and adolescents. There are other screening examinations, which are not yet consistently full-scale, for example in newborns and infant kidney´s ultrasound examination or measuring blood oxygen saturation to detect of critical heart defects. This article discusses the general role of screening in paediatrics, its principles, methods and risks.
BACKGROUND: Normalizing 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 in children 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 differences 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.
- MeSH
- Child MeSH
- Genotype MeSH
- Hydrocortisone therapeutic use MeSH
- Infant MeSH
- Adrenal Hyperplasia, Congenital * diagnosis genetics MeSH
- Humans MeSH
- Infant, Newborn MeSH
- Neonatal Screening MeSH
- Child, Preschool MeSH
- Retrospective Studies MeSH
- Check Tag
- Child MeSH
- Infant MeSH
- Humans MeSH
- Infant, Newborn MeSH
- Child, Preschool MeSH
- Publication type
- Journal Article MeSH
- MeSH
- Medical History Taking methods MeSH
- Anthropometry methods MeSH
- Child * MeSH
- Physical Examination methods MeSH
- Humans MeSH
- Nutritional Status * MeSH
- Malnutrition diagnosis MeSH
- Check Tag
- Child * MeSH
- Humans MeSH
- Publication type
- Review MeSH
