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
Bone Disease Associated with Inactivating Aromatase Mutations and its Management.
Cavati G et al.
Calcified Tissue International, 2025
Aromatase deficiency in a tall man: Case report of two novel mutations and review of literature.
Singhania P et al.
Bone Reports, 2022
Pathological variants in genes associated with disorders of sex development and central causes of hypogonadism in a whole-genome reference panel of 8380 Japanese individuals.
Shiga N et al.
Human Genome Variation, 2022
36171209 (PubMed )
Supplement: 41439_2022_213_MOESM2_ESM.xlsx › Supplementary_Table_2
A rs936306 C/T Polymorphism in the CYP19A1 Is Associated With Stress Fractures.
Kumagai H et al.
Journal of Strength and Conditioning Research, 2022
Aromatase deficiency: A case series of 46, XX Chinese children and a systematic review of the literature.
Fan L et al.
Clinical Endocrinology, 2020
Novel CYP19A1 Mutations Extend the Genotype-Phenotype Correlation and Reveal the Impact on Ovarian Function.
Praveen VP et al.
Journal of the Endocrine Society, 2020
Aromatase deficiency in a Chinese adult man caused by novel compound heterozygous CYP19A1 mutations: effects of estrogen replacement therapy on the bone, lipid, liver and glucose metabolism.
Chen Z et al.
Molecular and Cellular Endocrinology, 2015
Aromatase deficiency, a rare syndrome: case report.
Baykan EK et al.
Journal of Clinical Research in Pediatric Endocrinology, 2013
Genetic and clinical spectrum of aromatase deficiency in infancy, childhood and adolescence.
Belgorosky A et al.
Hormone Research, 2009
Human models of aromatase deficiency.
Zirilli L et al.
The Journal of Steroid Biochemistry and Molecular Biology, 2008
A novel compound heterozygous mutation of the aromatase gene in an adult man: reinforced evidence on the relationship between congenital oestrogen deficiency, adiposity and the metabolic syndrome.
Maffei L et al.
Clinical Endocrinology, 2007
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