Cavati G, Merlotti D, Cardamone P, Dipasquale G, Gennari L
Department of Medicine, Surgery and Neurosciences, University of Siena, Policlinico Santa Maria Alle Scotte, Siena, Italy.
Department of Medical Sciences, Azienda Ospedaliera Universitaria Senese, Siena, Italy.
Calcif Tissue Int. 2025 Jan 3;116(1):14. doi: 10.1007/s00223-024-01330-0.
Aromatase deficiency (ORPHA:91; OMIM: 613,546) is a rare, autosomal recessive disorder due to loss of function mutations in the CYP19A1 gene, described in both genders with an estimated incidence below 1/1000000. While in female the clinical manifestations generally occur at birth or in early infancy, and mainly involve sexual characteristics, in men clinical signs of aromatase deficiency mostly occur in puberty and especially in late puberty, so that diagnosis is generally established after the second decade due to tall stature, unfused epiphyses and reduced bone mass. Here we review the available information concerning the skeletal and extraskeletal phenotype and the clinical management of bone health in patients with aromatase CYP19A1 gene mutations.
芳香化酶缺乏症（Orphanet编号：91；OMIM编号：613,546）是一种罕见的常染色体隐性疾病，由CYP19A1基因突变导致功能丧失引起，在男女中均有描述，估计发病率低于1/1000000。女性的临床表现通常在出生时或婴儿早期出现，主要涉及性征，而男性芳香化酶缺乏症的临床症状大多在青春期出现，尤其是青春期后期，因此由于身材高大、骨骺未融合和骨量减少，一般在第二个十年后才确诊。在此，我们综述了有关芳香化酶CYP19A1基因突变患者骨骼和骨骼外表型以及骨骼健康临床管理的现有信息。
