PMID- 14648216
OWN - NLM
STAT- MEDLINE
DCOM- 20040401
LR  - 20191210
IS  - 0340-6199 (Print)
IS  - 0340-6199 (Linking)
VI  - 162
IP  - 12
DP  - 2003 Dec
TI  - Twenty years experience in rapid identification of congenital adrenal hyperplasia 
      in Hungary.
PG  - 844-9
AB  - The aim of this study was to assess the effectivity of the identification of 
      patients with congenital adrenal hyperplasia (CAH) in Hungary in the absence of 
      systematic neonatal screening and to estimate the incidence. Dried blood-spot 
      samples of patients clinically suspected at any age to have CAH were collected 
      between 1978 and 1998 throughout the whole country. 17-Hydroxyprogesterone 
      (17-OHP) was measured by radioimmunoassay. Age-specific cut-offs were used. The 
      effectivity of the system was retrospectively assessed. Additional cases were 
      sought to assess the overall incidence of CAH in Hungary. Among the 1,837 
      patients investigated, 185 cases of CAH were identified. The overall effectivity 
      was 94.7%. The sensitivity and the specificity were 98.9% and 94.2%, 
      respectively. Salt-wasting (SW) boys were, on average, diagnosed 2 weeks later 
      than SW girls, while both boys and girls with the simple virilising (SV) form 
      were diagnosed at similar ages (2 versus 2.5 years). An additional 19 cases were 
      diagnosed during the study period using other methods (plasma and urinary steroid 
      profiles without blood-spot 17-OHP measurements). The incidence of classical CAH 
      in Hungary was 1:14,300 (CI 95% between 1:12,450 and 1:16,795). Presuming that 
      the incidence of CAH is the same among boys and girls, one can calculate that the 
      diagnosis was missed in 24 boys (2 SW, 22 SV). CONCLUSION: it is possible to 
      identify the vast majority of classical cases of congenital adrenal hyperplasia 
      without a neonatal mass screening programme. However, a significant number of 
      boys with the simple virilising form missed whereas both salt-wasting boys and 
      girls are diagnosed safely.
FAU - Torok, Dora
AU  - Torok D
AD  - 2nd Department of Paediatrics, Faculty of Medicine, Semmelweis University, 
      Tuzolto u. 7-9, 1094, Budapest, Hungary.
FAU - Eckhardt, Gudrun
AU  - Eckhardt G
FAU - Solyom, Janos
AU  - Solyom J
LA  - eng
PT  - Evaluation Study
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20030930
PL  - Germany
TA  - Eur J Pediatr
JT  - European journal of pediatrics
JID - 7603873
RN  - 0 (Biomarkers)
RN  - 68-96-2 (17-alpha-Hydroxyprogesterone)
SB  - IM
MH  - 17-alpha-Hydroxyprogesterone/*blood
MH  - Adolescent
MH  - Adrenal Hyperplasia, Congenital/*diagnosis/economics/epidemiology
MH  - Biomarkers
MH  - Child
MH  - Child, Preschool
MH  - Cost-Benefit Analysis
MH  - Female
MH  - Humans
MH  - Hungary/epidemiology
MH  - Incidence
MH  - Infant
MH  - Infant, Newborn
MH  - Male
MH  - Radioimmunoassay
MH  - Retrospective Studies
MH  - Sensitivity and Specificity
EDAT- 2003/12/04 05:00
MHDA- 2004/04/02 05:00
CRDT- 2003/12/04 05:00
PHST- 2003/04/22 00:00 [received]
PHST- 2003/08/13 00:00 [accepted]
PHST- 2003/12/04 05:00 [pubmed]
PHST- 2004/04/02 05:00 [medline]
PHST- 2003/12/04 05:00 [entrez]
AID - 10.1007/s00431-003-1311-y [doi]
PST - ppublish
SO  - Eur J Pediatr. 2003 Dec;162(12):844-9. doi: 10.1007/s00431-003-1311-y. Epub 2003 
      Sep 30.