Filipas Emanuela, Southern Iain, Khanna Pooja, Banerjee Ritwik
Department of Endocrinology and Diabetes, East and North Hertfordshire NHS Trust, Stevenage, UK.
Department of Respiratory Medicine, Luton and Dunstable University Hospital NHS Foundation Trust, Luton, UK.
BMJ Case Rep. 2018 Jun 27;2018:bcr-2017-223557. doi: 10.1136/bcr-2017-223557.
This is a reminder of a rare cause of osteoporosis that remains widely underdiagnosed and lacks specific evidence on its optimal management. We bring a case report of a patient presenting with erectile dysfunction and high testosterone level but also elevated sex-hormone binding globulin hence low free androgen index as well as evidence of organ specific hypogonadal side effects such as osteoporosis. A unifying diagnosis of alpha-1 antitrypsin deficiency (AATD) brought together his coexistent mild chronic obstructive pulmonary disease as well as a new finding of previously unrecognised liver disease. This case highlights the uncertainties over the mechanism of osteoporosis in AATD as well as the controversies over best way to manage it. The efficacy of testosterone replacement in managing osteoporosis in the context of AATD remains untested. National registries for AATD would be best placed at gathering further evidence in this area.
这是对一种罕见的骨质疏松症病因的提醒，该病因仍广泛存在诊断不足的情况，且缺乏关于其最佳管理的具体证据。我们报告一例患者，该患者出现勃起功能障碍和高睾酮水平，但性激素结合球蛋白也升高，因此游离雄激素指数较低，同时还有器官特异性性腺功能减退副作用的证据，如骨质疏松症。α-1抗胰蛋白酶缺乏症（AATD）的统一诊断将他并存的轻度慢性阻塞性肺疾病以及新发现的先前未被认识的肝脏疾病联系在一起。该病例突出了AATD中骨质疏松症机制的不确定性以及管理该病的最佳方法的争议。在AATD背景下，睾酮替代治疗骨质疏松症的疗效仍未得到检验。AATD国家登记处最适合在该领域收集更多证据。
