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Pubmed for Handhelds

PUBMED FOR HANDHELDS

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  • Title: Female phenotype in a male child due to 17-alpha-hydroxylase deficiency.
    Author: Heremans GF, Moolenaar AJ, van Gelderen HH.
    Journal: Arch Dis Child; 1976 Sep; 51(9):721-3. PubMed ID: 999330.
    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.
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