PMID- 9332659
OWN - NLM
STAT- MEDLINE
DCOM- 19971125
LR  - 20190905
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 72
IP  - 3
DP  - 1997 Oct 31
TI  - Prenatal diagnosis of congenital adrenal hyperplasia (21-hydroxylase deficiency) 
      in Croatia.
PG  - 302-6
AB  - We report on the prenatal diagnosis of congenital adrenal hyperplasia due to 
      21-hydroxylase in 20 at-risk pregnancies (16 salt-wasting and 4 simple virilizing 
      families). We have diagnosed 3 affected fetuses (2 males and 1 female), 3 healthy 
      homozygotes (2 males and 1 female), and 14 healthy heterozygotes (7 females and 7 
      males). These data were collected over 4 years. In 16 fetuses, the diagnosis was 
      made with measurements of 17-hydroxyprogesterone (17-OHP) and 
      delta-4-androstenedione (delta) in amniotic fluid (AF), human leukocyte antigen 
      (HLA) typing of amniotic cells, as well as karyotypes between the 16th and 18th 
      weeks of gestation. In 4 fetuses, DNA analysis of amniotic cells was also 
      performed. In 3 pregnancies in which affected fetuses were suspected (on the 
      basis of HLA typing and measurements of 17-OHP and delta concentrations in AF), 
      the fetuses were electively aborted between the 17th to 19th weeks of gestation 
      by parental decision. In all aborted fetuses, diagnosis was confirmed with HLA 
      typing, autopsy findings of hyperplastic adrenal glands, and ambiguous genitalia 
      in female fetuses. Postnatal diagnosis was confirmed in healthy fetuses with HLA 
      typing and serum measurements of 17-OHP concentrations, and in 4 of them with DNA 
      analysis. In 3 of the 4 families, DNA analyses revealed the following mutations: 
      in Family 1, the index case mutation was Intron 2, Exon 3/Exon 6, and the fetus 
      was Normal/Exon 6; in Family 2, the index case mutation was Ex1 Int2 Ex3/ Int2, 
      and the fetus was Ex1 Int2 Ex3/Normal; and in Family 3, the index case mutation 
      was Ex8(356)/Ex8(356), and the fetus was Ex8(356)/ Normal. We also report one 
      case of prenatal diagnosis and treatment. Dexamethasone 0.5 mg BID (20 
      micrograms/kg/d) was given starting at 6th week of gestation. Prenatal diagnosis 
      suggested, but did not prove, that the female fetus was a heterozygote as the 
      fetus lacked the paternal mutation Ex8(318). No mutation was found in the mother. 
      The fetus, the mother, and the affected sib shared a haplotype, further 
      suggesting heterozygosity. The unaffected status was confirmed postnatally.
FAU - Dumic, M
AU  - Dumic M
AD  - Department of Pediatrics, University Hospital, Zagreb, Croatia.
FAU - Brkljacic, L
AU  - Brkljacic L
FAU - Plavsic, V
AU  - Plavsic V
FAU - Zunec, R
AU  - Zunec R
FAU - Ille, J
AU  - Ille J
FAU - Wilson, R C
AU  - Wilson RC
FAU - Kuvacic, I
AU  - Kuvacic I
FAU - Kastelan, A
AU  - Kastelan A
FAU - New, M I
AU  - New MI
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
RN  - 68-96-2 (17-alpha-Hydroxyprogesterone)
SB  - IM
MH  - 17-alpha-Hydroxyprogesterone/analysis
MH  - Adrenal Hyperplasia, Congenital/*diagnosis/embryology/genetics
MH  - Chorionic Villi Sampling
MH  - Croatia
MH  - Female
MH  - Fetal Diseases/*diagnosis
MH  - Histocompatibility Testing
MH  - Humans
MH  - Male
MH  - Pedigree
MH  - Prenatal Diagnosis
MH  - Radioimmunoassay
EDAT- 1997/10/23 22:26
MHDA- 2000/06/20 09:00
CRDT- 1997/10/23 22:26
PHST- 1997/10/23 22:26 [pubmed]
PHST- 2000/06/20 09:00 [medline]
PHST- 1997/10/23 22:26 [entrez]
AID - 10.1002/(SICI)1096-8628(19971031)72:3<302::AID-AJMG10>3.0.CO;2-X [pii]
AID - 10.1002/(sici)1096-8628(19971031)72:3<302::aid-ajmg10>3.0.co;2-x [doi]
PST - ppublish
SO  - Am J Med Genet. 1997 Oct 31;72(3):302-6. doi: 
      10.1002/(sici)1096-8628(19971031)72:3<302::aid-ajmg10>3.0.co;2-x.