Five New Cases of 46,XX Aromatase Deficiency: Clinical Follow-Up From Birth to Puberty, a Novel Mutation, and a Founder Effect | Zendy

Roxana Marino | Zendy; Natalia Pérez Garrido | Zendy; Mariana Costanzo | Zendy; Gabriela Guercio | Zendy; Matías Juanes | Zendy; Carlos Rocco | Zendy; Pablo Ramírez | Zendy; Diana Mónica Warman | Zendy; Marta Ciaccio | Zendy; G. de la Peña | Zendy; José García Feyling | Zendy; Mirta Miras | Zendy; Marco A. Rivarola | Zendy; Alicia Belgorosky | Zendy; Nora Saraco | Zendy

Open Access

Five New Cases of 46,XX Aromatase Deficiency: Clinical Follow-Up From Birth to Puberty, a Novel Mutation, and a Founder Effect

Author(s) -

Roxana Marino,

Natalia Pérez Garrido,

Mariana Costanzo,

Gabriela Guercio,

Matías Juanes,

Carlos Rocco,

Pablo Ramírez,

Diana Mónica Warman,

Marta Ciaccio,

G. de la Peña,

José García Feyling,

Mirta Miras,

Marco A. Rivarola,

Alicia Belgorosky,

Nora Saraco

Publication year - 2014

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2014-2967

Subject(s) - aromatase , haplotype , biology , mutation , genetics , founder effect , endocrinology , congenital adrenal hyperplasia , medicine , gene , genotype , cancer , breast cancer

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.

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