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Article

Five new cases of 46,XX aromatase deficiency: clinical follow-up from birth to puberty, a novel mutation, and a founder effect.

The Journal of clinical endocrinology and metabolism - 1 Feb 2015

Marino Roxana, Perez Garrido Natalia, Costanzo Mariana, Guercio Gabriela, Juanes Matías, Rocco Carlos, Ramirez Pablo, Warman Diana M, Ciaccio Marta, Pena Gladys, Feyling José García, Miras Mirta, Rivarola Marco A, Belgorosky Alicia, Saraco Nora

Abstract excerpt

CONTEXT: Aromatase is the key enzyme for estrogen biosynthesis and is encoded by the CYP19A1 gene. Since 1991, several molecular CYP19A1 gene alterations associated with aromatase deficiency have been described in both sexes. OBJECTIVE: The objective of the study was to detect CYP19A1 mutations in five aromatase-deficient 46,XX patients, to describe the clinical follow-up from birth to puberty and to perform...

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PMID: 25415177
DOI: 10.1210/jc.2014-2967

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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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