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ISSN 0188-9796 (Print)

2009, Number 4

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Rev Endocrinol Nutr 2009; 17 (4)

Disorders of sexual differentiation due to CYP17 mutations

Durán-Pérez EG, González RML, Moreno-Loza OT, Martín SMD, Segovia-Palomo A, Sánchez-Pedraza V, Kofman-Alfaro S, Arellano-Montaño S, Queipo-García GE

Language: Spanish
References: 28
Page: 153-160
PDF size: 246.73 Kb.


ABSTRACT

P450c17 (CYP17) enzyme deficiency, also referred to as 17-alpha-hydroxylase/17,20 lyase deficiency (17OHD) is a rare cause of congenital adrenal hyperplasia resulting from mutations in the CYP17A1 gene with an autosomal recessive inheritance pattern. Clinical manifestations of 17OHD include hypertension with hypokalemia and metabolic alkalosis with a disorder of sexual development (DSD) expressed as male pseudohermaphroditism in XY patients, and hypergonadotrophic hypogonadism (with amenorrhea and lack of secondary sexual development) in XX patients. Diagnostic tests should include clinical and biochemical evaluation, however the definitive diagnosis is performed searching for the mutation in both alleles of the CYP17 gene. Treatment of these patients should be performed by a multidisciplinary team whose members are experienced in this subject.


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