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  • Title: Male pseudohermaphroditism due to 17-hydroxylase deficiency.
    Author: D'Alberton A, Reschini E, Motta T, Catania A.
    Journal: J Endocrinol Invest; 1989 Mar; 12(3):193-6. PubMed ID: 2786019.
    Abstract:
    A 27-year-old phenotypic female presented with primary amenorrhea, severe hypertension, and hypokalemia. At the age of puberty sexual development had not occurred; in particular, sexual hair had not grown. Past history revealed an episode of subarachnoid hemorrhage and several episodes of ventricular tachyarrhythmia. Karyotype was 46, XY. The steroids requiring 17-hydroxylation (cortisol, testosterone, pregnanetriol, 17-ketosteroids, 17-hydroxycorticosteroids) were low, while those not requiring 17-hydroxylation (progesterone, deoxycorticosterone, corticosterone) were high, demonstrating 17-hydroxylase deficiency. The corticosterone/deoxycorticosterone ratio was relatively low, suggesting an associated partial deficiency of 11-hydroxylase.
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