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Organo Oficial de la Sociedad Mexicana de Urología

2010, Number 5

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Rev Mex Urol 2010; 70 (5)

17 alpha-hydroxylase deficiency as a cause of gonadal dysgenesis

Rosas-Nava JE, Lira-Dale A, Corona-Montes VE, Almanza-González MS, Manzanilla-García HA

Language: Spanish
References: 18
Page: 296-300
PDF size: 1562.15 Kb.


ABSTRACT

Introduction: Gonadal dysgenesis is a rare disorder caused by congenital adrenal hyperplasia due to a defect in cortisol and sexual steroid biosynthesis that results in an excess of mineralocorticoids, hypertension with hypokalemia, and sexual abnormalities such as pseudohermaphroditism in men and sexual infantilism in women. Its incidence is 1:50,000. It has an autosomal recessive pattern and is caused by mutations in the cytochrome gene P450c17 (CYP17) that mediates 17 alpha-hydroxylase and 17,20-lyase activity.
Objective: To report the experience at the Hospital General de México with gonadal dysgenesis secondary to 17alpha- hydroxylase deficiency, along with its diagnostic methodology, clinical symptoms, and management.
Conclusions: 17 alpha-hydroxylase deficiency is a rare condition and should be suspected in patients with hypokalemic hypertension and delay in the development of secondary sexual characteristics in order to implement appropriate therapy. It is usually managed by hormonal replacement with estrogens for the induction of secondary sexual characteristics. Prophylactic gonadectomy is indicated in genetic males due to the risk of malignization.


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