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Article

[Congenital adrenal hyperplasia due to lack of 17α-hydroxylase: a report of a new mutation in the gene CYP17A1].

Anales de pediatria (Barcelona, Spain : 2003) - 1 Jan 2015

Perales Martínez J I, Pina Marqués B, de Arriba Muñoz A, Mayayo Dehesa E, Labarta Aizpún J I, Loidi Fernández L

Abstract excerpt

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...

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Identifiers

PMID: 24593890
DOI: 10.1016/j.anpedi.2013.11.019

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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