Conversion from pure 17,20-desmolase- to combined 17,20-desmolase/17 alpha-hydroxylase deficiency with age.

doi:10.1530/acta.0.1270097

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Article

Conversion from pure 17,20-desmolase- to combined 17,20-desmolase/17 alpha-hydroxylase deficiency with age.

Acta endocrinologica - 1 Aug 1992

Zachmann M, Kempken B, Manella B, Navarro E

Abstract excerpt

A previously described phenotypically female 46,XY-individual with 17,20-desmolase deficiency was followed from adolescence to adulthood. While at age 16.9 years her 17 alpha-hydroxylating capacity was normal and steroids not hydroxylated in position 17 low, decreasing 17 alpha-hydroxylated and i...

Topics

Adrenal Hyperplasia, Congenital
Adult
Aging
Aldehyde-Lyases
Blood Pressure
Cytochrome P-450 Enzyme System
Dexamethasone
Female
Heterozygote
Humans
Hydrocortisone
Phenotype
Pregnanediol
Steroid 17-alpha-Hydroxylase
Tetrahydrocortisone

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