目的:17α-羟化酶/17,20-裂解酶缺乏症(17-OHD)是一种极其罕见的常染色体隐性遗传疾病,通常会导致高血压,低钾血症,原发性闭经,46,XX个体没有第二性征。部分17-OHD甚至比完全17-OHD更罕见,并且由于其微妙的症状而容易漏诊。这项研究的目的是帮助早期发现和诊断部分17-OHD。方法:我们介绍了一例41岁的女性(46,XX)患者,由一种新的错义CYP17A1突变引起的部分17-OHD,c.391A>C(第T131P)。这个病人经历了高血压,低钾血症和肾上腺增生,但不存在原发性闭经或没有第二性征。最初,她被误诊,接受了左右肾上腺切除术,但是程序无效。之后,她接受了0.5毫克地塞米松的一个月治疗,这大大缓解了她的症状。此外,我们回顾了其他13例17-OHD患者的46例,XX个人从文献中,共有十四个先证者。结果:我们发现原发性闭经,高血压,低钾血症,卵巢囊肿占15.4%,42.9%,38.5%,72.7%的病人,分别。相比之下,所有患者血清孕酮升高.结论:根据我们的文献综述,没有原发性闭经,高血压或低钾血症不能排除在46,XX个体中怀疑为17-OHD。然而,血清孕酮水平升高是诊断17-OHD的高度敏感指标.
背景是什么?17-OHD是继发性高血压的罕见原因,经常伴有低钾血症,原发性闭经和没有第二性征。部分17-OHD是更罕见的17-OHD亚型,有微妙的症状。关于部分17-OHD的报道很少,尤其是46例XX患者。有什么新消息?我们报道了一例46,XX患者,由一种新的错义CYP17A1突变引起的部分17-OHD,c.391A>C(第T131P)。我们还进行了文献综述,以总结临床,1446,XX先证者部分17-OHD的激素和遗传特征。从文献综述来看,我们发现:大多数46,XX患者17-OHD部分表现为阴毛部分,乳房发育,月经少经或继发性闭经,Normotession,和/或正常钾血症。所有46,XX患者的部分17-OHD均表现为血清孕酮升高。然而,17-羟化酶和/或17,20-裂解酶的体外酶活性与临床严重程度之间的关系仍不清楚。有什么影响?目前的研究可以帮助早期发现和诊断部分17-OHD。
Aim: 17 α-hydroxylase/17,20-lyase deficiency (17-OHD) is an extremely rare autosomal recessive disorder that typically causes hypertension, hypokalaemia, primary amenorrhoea, and the absence of secondary sex characteristics in 46,XX individuals. Partial 17-OHD is even rarer than complete 17-OHD and is prone to missed diagnosis due to its subtler symptoms. The aim of this study was to help early detection and diagnosis of partial 17-OHD.Methods: We present a case of a 41-year-old female (46,XX) patient with partial 17-OHD caused by a novel missense
CYP17A1 mutation, c.391 A > C (p.T131P). This patient experienced hypertension, hypokalaemia and adrenal hyperplasia, but did not present with primary amenorrhoea or absence of secondary sex characteristics. Initially, she was misdiagnosed and underwent right and left adrenalectomy, but the procedures were ineffective. Afterward, she received a one-month treatment of 0.5 mg dexamethasone, which greatly relieved her symptoms. Additionally, we reviewed reports of thirteen other patients with partial 17-OHD in 46,XX individuals from the literature, totalling fourteen probands.Results: We found that primary amenorrhoea, hypertension, hypokalaemia, and ovarian cysts accounted for 15.4%, 42.9%, 38.5%, and 72.7% of these patients, respectively. In contrast, elevated serum progesterone was present in all patients.Conclusion: Based on our literature
review, the absence of primary amenorrhoea, hypertension or hypokalaemia cannot rule out suspicion for 17-OHD in 46,XX individuals. However, an elevation in serum progesterone levels is a highly sensitive indicator for diagnosing 17-OHD.
What is the context?17-OHD is a rare cause of secondary hypertension, often with hypokalaemia, primary amenorrhoea and absence of secondary sex characteristics.Partial 17-OHD is an even rarer subtype of 17-OHD, with subtler symptoms.There are few reports concerning partial 17-OHD, especially in 46,XX patients.What is new?We reported a case of a 46,XX patient with partial 17-OHD caused by a novel missense
CYP17A1 mutation, c.391 A > C (p.T131P).We also conducted a literature
review to summarise the clinical, hormonal and genetic characteristics of fourteen 46,XX probands with partial 17-OHD.From the literature
review, we found that:Most 46,XX patients with partial 17-OHD presented with partial pubic hair, breast development, oligomenorrhea or secondary amenorrhoea, normotension, and/or normokalemia.All 46,XX patients with partial 17-OHD presented with elevated serum progesterone.However, the relationship between in vitro enzyme activities of the 17-hydroxylase and/or17,20-lyase and clinical severity is still unclear.What is the impact?The current study can help early detection and diagnosis of partial 17-OHD.