Female phenotype in a male child due to 17-alpha-hydroxylase deficiency.
Open Access
- 1 September 1976
- journal article
- case report
- Published by BMJ in Archives of Disease in Childhood
- Vol. 51 (9) , 721-723
- https://doi.org/10.1136/adc.51.9.721
Abstract
The discovery of testicles in a 3-year-old girl with XY karyotype led to a diagnosis of testicular feminization. Subsequently, however, hypokalaemia, hypertension, and severe prostration during a mild infection suggested adrenal involvement, and investigations showed a 17-alpha-hydroxylase deficiency. Diagnosis of testicular feminization should not be made without excluding a defect of testosterone synthesis.Keywords
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