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

Journal of Clinical Endocrinology and Metabolism

Volumn 100, Issue 2, 2015, Pages E301-E307

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

^a HOSPITAL DE PEDIATRÍA PROF DR JUAN P GARRAHAN   (Argentina)

^b Hospital Infantil Municipal de Cordoba   (Argentina)

^c Hospital Regional de Concepcion   (Argentina)

^d Hospital de Ninos de la Santisima Trinidad   (Argentina)

Author keywords

[No Author keywords available]

Indexed keywords

46,XX AROMATASE DEFICIENCY; ADULT; AMBIGUOUS GENITALIA; AROMATASE DEFICIENCY; ARTICLE; BIRTH; CHILD; CLINICAL ARTICLE; COMPUTER MODEL; CONGENITAL ADRENAL HYPERPLASIA; CYP19A1 GENE; DNA FLANKING REGION; DNA SEQUENCE; FEMALE; FOLLOW UP; GENE; GENE MUTATION; HAPLOTYPE; HUMAN; INTRON; MUTATIONAL ANALYSIS; PHENOTYPIC VARIATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PUBERTY; RNA SPLICING; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; ADOLESCENT; DEFICIENCY; DISORDER OF SEX DEVELOPMENT; FOUNDER EFFECT; GENETICS; GYNECOMASTIA; INBORN ERROR OF METABOLISM; MALE INFERTILITY; MUTATION; NUCLEOTIDE SEQUENCE;

AROMATASE; CYP19A1 PROTEIN, HUMAN;

46, XX DISORDERS OF SEX DEVELOPMENT; ADOLESCENT; AROMATASE; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; FOLLOW-UP STUDIES; FOUNDER EFFECT; GYNECOMASTIA; HAPLOTYPES; HUMANS; INFERTILITY, MALE; METABOLISM, INBORN ERRORS; MUTATION;

EID: 84927565562     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2014-2967     Document Type: Article

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