J Korean Med Sci.  1988 Jun;3(2):73-77. 10.3346/jkms.1988.3.2.73.

Prenatal diagnosis of a heterozygote of salt wasting congenital adrenal hyperplasia due to 21-hydroxylase deficiency by genetic linkage analysis

• Oh BH
• Park JK
• Choi YM
• Yang IM
• Kim YS
• Choi YK

• KMID: 1421288
• DOI: http://doi.org/10.3346/jkms.1988.3.2.73

Abstract

For the purpose of prenatal diagnosis of CAH, genetic linkage analysis by HLA genotyping with lymphocytes and cultured amniotic cells were performed in a family at risk in which two consecutive children had been affected with SW CAH. In addition, the response of serum 17-OHP to intravenous ACTH was determined in obligate carrier parents, and 17-OHP concentration of amniotic fluid was also measured at 16 weeks of gestation. As might be expected, the baseline levels of 17-OHP in obligate parents were significantly higher than that of normal control. Although the post stimulation response of 17-OHP to ACTH in the mother (I-2) was significantly higher than that of normal control, the post stimulation levels of 17-OHP were in normal range in the father (I-1). The 17-OHP level (5.7 ng/ml) in the amniotic fluid showed intermediate value compared to Pang's report (normal less than 30 ng/ml, CAH greater than 12.0 ng/ml) suggesting heterozygote of the fetus. Genetic linkage analysis by HLA genotyping with cultured amniotic cells revealed heterozygote in their fetus (II-3) who has received one chromosome No,6 containing HLA haplotype A24, B40, Cw3 (normal allele for 21-OH) from the father and the other chromosome No,6 containing HLA haplotype A2, Bw62, Cw4 (mutant allele for 21-OH D) from the mother. In conclusion, attempts to detect heterozygote for 21-OH deficiency by ACTH stimulation test were partially successful and prenatal diagnosis of CAH by the hormone studies in ammiotic fluid requires reliable values in normal, heterozygotes and patients group, respectively.(ABSTRACT TRUNCATED AT 250 WORDS)

Keyword

Congenital Adrenal Hyperplasia (CAH); HLA haplotype; ACTH stimulation test; genetic linkage analysis

MeSH Terms

*Adrenal Hyperplasia, Congenital/*diagnosis/enzymology/genetics
Adult
Amniocentesis
Cells, Cultured
Female
Fetal Diseases/*diagnosis/enzymology
HLA Antigens/analysis
Heterozygote Detection
Humans
Pedigree
Pregnancy
*Prenatal Diagnosis
Steroid Hydroxylases
HLA Antigens
Steroid Hydroxylases