Department of Endocrinology, First Hospital of Lanzhou University, Lanzhou 730000.
National Clinical Research Center for Metabolic Diseases; Department of Metabolism and Endocrinology, Second Xiangya Hospital, Central South University, Changsha 410011, China.
Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2022 Jun 28;47(6):794-800. doi: 10.11817/j.issn.1672-7347.2022.210401.
Aromatase deficiency (AD) is a rare autosomal recessive genetic disease caused by loss-of-function mutations in aromatase gene (), leading to congenital estrogen deficiency syndrome. Both mothers of AD patients during pregnancy and female AD fetus show virilization, while male patients are usually diagnosed in adulthood due to continued height increase and metabolic abnormalities. In 2019, a patient with AD was admitted in the Second Xiangya Hospital. The patient was a 37-year-old adult male who continued to grow linearly after adulthood. His estradiol was below the measurable line, the follicle-stimulating hormone (FSH) increased, bone age delayed, epiphysis unfused, and the bone mass reduced. gene detection showed that c.1093C>T, p.R365W was homozygous mutation. This disease is rare in clinic. Clinicians need to raise awareness of the disease for early diagnosis and treatment to improve the long-term prognosis of patients.
芳香酶缺陷症（AD）是一种罕见的常染色体隐性遗传疾病，由芳香酶基因（）的功能丧失性突变引起，导致先天性雌激素缺乏综合征。AD 患者的妊娠母亲和女性胎儿均表现出男性化，而男性患者通常由于持续的身高增长和代谢异常在成年后被诊断出。2019 年，一名 AD 患者在湘雅二医院住院。该患者是一名 37 岁的成年男性，成年后仍持续线性生长。他的雌二醇低于可测量线，卵泡刺激素（FSH）升高，骨龄延迟，骨骺未融合，骨量减少。基因检测显示 c.1093C>T，p.R365W 为纯合突变。这种疾病在临床上较为罕见。临床医生需要提高对该疾病的认识，以便早期诊断和治疗，从而改善患者的长期预后。
