| Autor: |
Jones, Kenneth Lee, Freidenberg, Gary R., Buchta, Richard, Derenoncourt, Ajanta |
| Zdroj: |
American Journal of Diseases of Children; May 1992, Vol. 146 Issue: 5 p592-595, 4p |
| Abstrakt: |
• OBJECTIVE. —To report the cases of and to describe two unrelated Guamanian patients with an unusual form of congenital adrenal hyperplasia resulting from 17α-monooxygenase deficiency (P-450C17). DESIGN. —Patient series. SETTING. —Referral center. PATIENTS. —Two phenotypic females of Guamanian descent, unrelated, and referred for evaluation of hypertension and delayed sexual development. INTERVENTIONS. —Diagnosis by measurement of specific adrenocortical precursors and initiation of therapy with dexamethasone. Documentation of response by decrease in circulating concentrations of metabolites and decrease in blood pressure. CONCLUSIONS. —The finding of a rare autosomal recessive disorder in two unrelated persons from a small genetic pool in Guam suggests that this may result from the same molecular defect and may be present in this population at an unexpectedly high incidence. Lack of suspicion frequently leads to unnecessary delay in diagnosis of this condition.(AJDC. 1992;146:592-595) |
| Databáze: |
Supplemental Index |
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