Associated Papers
Aromatase enzyme deficiency in an adult male patient and the effects of estrogen replacement therapy: a rare cause of tall stature.
Imre E et al.
Hormones (athens, Greece), 2025
46,XX aromatase deficiency: A single-center experience with the varied spectrum and recurrent variants, and a systematic review of hormonal parameters.
Yami Channaiah C et al.
Annales D'endocrinologie, 2024
Aromatase deficiency in a tall man: Case report of two novel mutations and review of literature.
Singhania P et al.
Bone Reports, 2022
Rare genetic variability in human drug target genes modulates drug response and can guide precision medicine.
Zhou Y et al.
Science Advances, 2021
34516913 (PubMed )
Supplement: sciadv.abi6856_tables_s1_to_s8.zip › sciadv.abi6856_Table_S6.xlsx › Sheet1
Aromatase deficiency: A case series of 46, XX Chinese children and a systematic review of the literature.
Fan L et al.
Clinical Endocrinology, 2020
Aromatase Deficiency in Two Siblings with 46,XX Karyotype Raised as Different Genders: A Novel Mutation (p.R115X) in the CYP19A1 Gene
Özen S et al.
Journal of Clinical Research in Pediatric Endocrinology, 2020
46,XX DSD due to Androgen Excess in Monogenic Disorders of Steroidogenesis: Genetic, Biochemical, and Clinical Features.
Baronio F et al.
International Journal of Molecular Sciences, 2019
31533357 (PubMed )
Supplement: ijms-20-04605-s001.pdf
Aromatase deficiency in a male patient - Case report and review of the literature.
Miedlich SU et al.
Bone, 2016
Aromatase deficiency: a novel compound heterozygous mutation identified in a Chinese girl with severe phenotype and obvious maternal virilization.
Zhu WJ et al.
Molecular and Cellular Endocrinology, 2016
Five new cases of 46,XX aromatase deficiency: clinical follow-up from birth to puberty, a novel mutation, and a founder effect.
Marino R et al.
The Journal of Clinical Endocrinology and Metabolism, 2015
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