Home monitoring of 17 hydroxyprogesterone levels: “Throw away the urine jug, Mom, the filter paper just arrived”  

Oleh:

Schwartz, Robert P.

Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: The Journal of Pediatrics vol. 135 no. 02 (Feb. 1999), page 140-142.
Topik: 17OHP ; 17 hydroxyprogesterone; CAH ; Congenital adrenal hyperplasia

Ketersediaan

Perpustakaan FK Nomor Panggil: J45.K.1999.02 Non-tandon: 1 (dapat dipinjam: 0) Tandon: tidak ada

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Isi artikel

The congenital adrenal hyperplasia syndrome is a family of disorders caused by deficiency of specific enzymes required for cortisol biosynthesis. A deficiency of cytochrome P-450 21-hydroxylase (CYP21) is the most common enzyme defect, causing 90% to 95% of cases. Approximately 75% of individuals with 21-hydroxylase deficiency also have a deficiency of aldosterone biosynthesis and have renal salt wasting. Other forms of 21-hydroxylase deficiency include a simple virilizing type and a late-onset nonclassic type. The inheritance of 21-hydroxylase deficiency is autosomal recessive. The gene for CYP21 has been mapped to chromosome 6, at 6p21.3.1 Mutations in the 21-hydroxylase gene are frequently the result of gene deletions in CYP21 or gene conversion resulting from crossovers between the active 21-hydroxylase gene (CYP21) and the inactive pseudogene (CYP21P). The mutations result in a variable deficiency of enzyme activity; those mutations that abolish enzyme activity completely are associated with salt wasting. Genotype usually correlates with phenotype. Prenatal diagnosis from chorionic villus samples is available by molecular genetic analysis of the 21-hydroxylase locus if the genotype for an affected sibling or family member is known. Prenatal treatment is possible by administering dexamethasone to the mother early in pregnancy (before 7 weeks). Dexamethasone crosses the placenta, suppresses fetal corticotropin and androgen production, and decreases virilization in affected female infants in about two thirds of reported cases.3 Because chorionic villus testing cannot be performed until after 10 to 11 weeks’ gestation, treatment must be started before a diagnosis is available. This means that 7 of 8 fetuses (all male and unaffected female fetuses) will be needlessly treated because only affected female infants can benefit and will continue to receive treatment. Long-term follow-up of infants treated prenatally is limited, and side effects to the mother may be significant.

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