title: [Congenital adrenal hyperplasia due to lack of 17α-hydroxylase: a report of a new mutation in the gene CYP17A1].
abstract: P450c17 enzyme catalyses two different reactions: the 17α-hydroxylation of progesterone and pregnenolone, and segmenting the carbon 17-20 binding from the 17,20lyase producing adrenal androgens. This enzyme is coded by the CYP17A1 gene. The case is presented of a 14 year old patient with delayed pubertal development and a high blood pressure for height and age. 46,XX karyotype. Hormonal studies highlighted hypergonadotropic hypogonadism, adrenal insufficiency and mineralocorticoid excess. Subsequent genetic studies showed a homozygous mutation in the CYP17A1 gene (c.753+G>A), not previously described, which is responsible for the pathophysiology of 17α-hydroxylase deficiency. This entity is a rare form of congenital adrenal hyperplasia. The disease often goes unnoticed until adolescence or early adult life, and should be suspected in 46,XY individuals with ambiguous genitalia or 46,XX with delayed puberty associated with hypertension and/or hypokalaemia.
authors.affiliation: Servicio de Pediatría, Hospital de Barbastro, Barbastro, Huesca, España. Electronic address: josiperales@hotmail.com.
authors.forename: J I
authors.initials: JI
authors.lastname: Perales Martínez
authors.affiliation: Servicio de Pediatría, Hospital Universitario Miguel Servet, Zaragoza, España.
authors.forename: B
authors.initials: B
authors.lastname: Pina Marqués
authors.affiliation: Unidad de Endocrinología Pediátrica, Servicio de Pediatría, Hospital Universitario Miguel Servet, Zaragoza, España.
authors.forename: A
authors.initials: A
authors.lastname: de Arriba Muñoz
authors.affiliation: Unidad de Endocrinología Pediátrica, Servicio de Pediatría, Hospital Universitario Miguel Servet, Zaragoza, España.
authors.forename: E
authors.initials: E
authors.lastname: Mayayo Dehesa
authors.affiliation: Unidad de Endocrinología Pediátrica, Servicio de Pediatría, Hospital Universitario Miguel Servet, Zaragoza, España.
authors.forename: J I
authors.initials: JI
authors.lastname: Labarta Aizpún
authors.affiliation: Fundación Pública Galega de Medicina Xenómica, Complejo Hospitalario Universitario de Santiago de Compostela, Santiago de Compostela, La Coruña, España.
authors.forename: L
authors.initials: L
authors.lastname: Loidi Fernández
mesh_terms: D000293:Adolescent; D000312:Adrenal Hyperplasia, Congenital / Q000201:enzymology / Q000235:genetics*; D005260:Female; D006801:Humans; D009154:Mutation; D013254:Steroid 17-alpha-Hydroxylase / Q000235:genetics*
chemical_list: C501892:CYP17A1 protein, human; D013254:Steroid 17-alpha-Hydroxylase
keywords: CYP17A1 gene; Congenital adrenal hyperplasia; Delayed puberty; Hiperplasia suprarrenal congénita; Mineralocorticoid; Mineralocorticoides, Gen CYP17A1; Retraso puberal