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  • Title: [Male pseudohermaphroditism caused by 17-alpha-hydroxylase deficiency. Personal case reports and a review of the literature].
    Author: De Marinis L, Mancini A, Saporosi A, Calabrò F, Massari M, Moneta E, Menini E, Barbarino A.
    Journal: Minerva Ginecol; 1989 Jul; 41(7):337-42. PubMed ID: 2691923.
    Abstract:
    Adrenal hyperplasia due to 17-alpha-hydroxylase deficiency is coupled with precocious hypogonadism, which causes pseudohermaphroditism in XY subjects and primary amenorrhea in XX subjects. The physiology of gluco- and mineral-corticoid adrenal activity, as well as the biosynthesis of gonadal steroids, is totally altered. We report two cases of XY subjects, identified as females, who came to our observation for primary amenorrhea and exhibited a hypertension with hypokaliemia. We also report a critical review of the literature, with a main attention to differential diagnosis and mineralcorticoid physiopathology, in order to contribute to the knowledge of normal adrenal function and of this enzymatic defect.
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