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
Unravelling the role of PLK1 in tumorigenesis by revealing the mutational landscape of colorectal and lung cancer with PLK1 mutations.
Wang S et al.
Journal of Cellular and Molecular Medicine, 2024
Disorders of Sex Development in a Large Ukrainian Cohort: Clinical Diversity and Genetic Findings.
Globa E et al.
Frontiers in Endocrinology, 2022
A novel patient-derived organoids-based xenografts model for preclinical drug response testing in patients with colorectal liver metastases.
Jian M et al.
Journal of Translational Medicine, 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
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
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
Impact of estrogen replacement throughout childhood on growth, pituitary-gonadal axis and bone in a 46,XX patient with CYP19A1 deficiency.
Janner M et al.
Hormone Research in Paediatrics, 2012
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
Recognizing rare disorders: aromatase deficiency.
Jones ME et al.
Nature Clinical Practice. Endocrinology & Metabolism, 2007
A case of female pseudohermaphroditism caused by aromatase deficiency.
Nagasaki K et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2004
Aromatase deficiency and estrogen resistance: from molecular genetics to clinic.
Bulun SE
Seminars in Reproductive Medicine, 2000
Estrogen: consequences and implications of human mutations in synthesis and action.
Grumbach MM et al.
The Journal of Clinical Endocrinology and Metabolism, 1999
Aromatase deficiency in a female who is compound heterozygote for two new point mutations in the P450arom gene: impact of estrogens on hypergonadotropic hypogonadism, multicystic ovaries, and bone densitometry in childhood.
Mullis PE et al.
The Journal of Clinical Endocrinology and Metabolism, 1997
Genetic mutations resulting in loss of aromatase activity in humans and mice.
Simpson ER
Journal of the Society for Gynecologic Investigation, 0
Female pseudohermaphroditism associated with a novel homozygous G-to-A (V370-to-M) substitution in the P-450 aromatase gene.
Ludwig M et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 0