Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0042755 (masculinization)
 2,562 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Advances in technology have made possible the prenatal diagnosis and treatment of female fetuses with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Hormonal measurement of 17-hydroxyprogesterone, androstenedione, testosterone and 21-deoxycortisol and HLA typing and DNA analysis for 21-OH/C4/HLA class I and II genes in chorionic villus cells and amniocytes are utilized for prenatal diagnosis. Maternal dexamethasone administration begun in the first trimester has prevented or ameliorated virilization in approximately three-fourths of infants. Maternal estriol levels appear to be the most accurate measure of fetal adrenal suppression. Maternal side effects are not infrequent and include excess weight gain, edema, glucose intolerance, hypertension and gastrointestinal problems. Severe permanent striae have been reported. Although no complications of prenatal treatment in the treated fetus or child have been reported long-term follow-up with careful neuropsychologic evaluation is not yet available and is necessary to fully evaluate possible long-term side-effects of prenatal dexamethasone treatment.
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PMID:Prenatal diagnosis and treatment of congenital adrenal hyperplasia. 782 Feb 12

Prenatal diagnosis of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is possible using chorionic villus and amniotic fluid cells for DNA analysis of the CYP21B gene and the C4 and HLA class I and II genes. Mutations can be identified on 95% of the chromosomes using Southern blot analysis and selective amplification of the CYP21B gene by polymerase chain reaction followed by allele-specific hybridization with oligonucleotide probes for a panel of nine known CYP21B mutations. Prenatal treatment with dexamethasone at doses between 0.5 and 2 mg/day is successful in three-quarters of the treated cases in eliminating or reducing the masculinization of the affected female external genitalia. The mother must be closely monitored for any adverse effects to her health such as hypertension or glucose intolerance. Prenatal dexamethasone treatment does not seem to have an adverse effect on growth, psychological development, or school performance except for increased shyness, internalizing and decreased social behavior. Animal studies, however, have shown abnormalities in the fetal brain and behavior of the animals. Prenatal dexamethasone treatment is still offered with caution to the parents of a potentially affected CAH female.
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PMID:Prenatal diagnosis and treatment of congenital adrenal hyperplasia and consequences in adults. 1196 26