Conversion from pure 17,20-desmolase- to combined 17,20-desmolase/17 alpha-hydroxylase deficiency with age.
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 increasing unhydroxylated steroids were observed thereafter up to the age of 25.2 years. Simultaneously with the steroid changes, previously normal blood pressure (110/80 mmHg) increased (180/130 mmHg). Since 17 alpha-hydroxylation and 17,20-desmolase activity are regulated by one cytochrome P450-17 alpha, it is concluded that, in this same patient, 17 alpha-hydroxylase activity was normal during childhood and adolescence, but decreased in the young adult. 17,20-desmolase activity, by contrast, was completely absent already in the fetus, causing absence of masculinization. The factors modulating this difference in cytochrome P450-17 alpha activity with age are as yet unknown.
Zachmann
M
M
Department of Paediatrics, University of Zurich, Switzerland.
Kempken
B
B
Manella
B
B
Navarro
E
E
D000312:Adrenal Hyperplasia, Congenital; D000328:Adult; D000375:Aging / Q000378:metabolism* / Q000502:physiology; D000446:Aldehyde-Lyases / Q000172:deficiency* / Q000235:genetics / Q000378:metabolism*; D001794:Blood Pressure / Q000502:physiology; D003577:Cytochrome P-450 Enzyme System / Q000172:deficiency* / Q000235:genetics / Q000378:metabolism*; D003907:Dexamethasone / Q000494:pharmacology; D005260:Female; D006579:Heterozygote; D006801:Humans; D006854:Hydrocortisone / Q000378:metabolism; D010641:Phenotype; D011276:Pregnanediol / Q000652:urine; D013254:Steroid 17-alpha-Hydroxylase / Q000235:genetics / Q000378:metabolism; D013761:Tetrahydrocortisone / Q000652:urine
D013761:Tetrahydrocortisone; D003907:Dexamethasone; D003577:Cytochrome P-450 Enzyme System; D013254:Steroid 17-alpha-Hydroxylase; D000446:Aldehyde-Lyases; D011276:Pregnanediol; D006854:Hydrocortisone