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Article

17alpha-hydroxylase deficiency : biochemical and molecular findings in two sisters and their family.

Molecular diagnosis : a journal devoted to the understanding of human disease through the clinical application of molecular biology - 1 Jan 2004

Perez Maria S, Benencia Haydee, Frechtel Gustavo D, Esteban Eduardo O, Gil Maria Christina, Targovnik Héctor M, Marquez Norma B

Abstract excerpt

OBJECTIVE: To search for molecular changes in two Argentinian sisters with a clinical and biochemical diagnosis of 17alpha-hydroxylase deficiency. SUBJECTS: Both patients had 46 XX karyotype, with sexual infantilism, primary amenorrhea, and hypertension. Other member of the first degree family did not have this deficiency. HORMONAL RESULTS: The patients showed high levels of gonadotrophins and progesterone along...

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PMID: 15771555
DOI: 10.1007/BF03260061

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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