Endocrinology, Department of Clinical and Experimental Medicine, University of Catania, Via S. Sofia 78, 95123, Catania, Italy.
J Endocrinol Invest. 2023 Jan;46(1):1-14. doi: 10.1007/s40618-022-01849-9. Epub 2022 Jul 17.
P450 oxidoreductase (POR) deficiency (PORD) is characterized by congenital adrenal hyperplasia (CAH) and disorders of sex development (DSD) in both sexes. PORD can also associate with skeletal defects. However, the prevalence of these phenotypes is unknown.
To evaluate the prevalence of CAH, DSD, and infertility of patients with POR gene pathogenic variants by a systematic review of the literature.
The literature search was performed through PubMed, MEDLINE, Cochrane, Academic One Files, Google Scholar, and Scopus databases. All studies reporting information on CAH, DSD, testicular adrenal rest tumor (TARTs), and fertility in patients with POR gene pathogenic variants were included. Finally, the prevalence of abnormal phenotypes was calculated.
Of the 246 articles initially retrieved, only 48 were included for a total of 119 (46 males and 73 females) patients with PORD. We also included the case of a male patient who consulted us for CAH and TARTs but without DSD. This patient, found to be a carrier of combined heterozygous POR mutation, reached fatherhood spontaneously. All the patients found had CAH. The presence of DSD was found in 65.2%, 82.1%, and 82.1% of patients with compound heterozygosity, homozygosity, or monoallelic heterozygous variants, respectively. The prevalence was significantly higher in females than in males. The prevalence of TARTs in patients with PORD is 2.7%. Only 5 women with PORD became pregnant after assisted reproductive techniques and delivered a healthy baby. Except for the recently reported proband, no other studies focused on male infertility in patients with POR gene variants.
This systematic review of the literature reports the prevalence of CAH, DSD, and TARTs in patients with PORD. The unknown prevalence of POR gene pathogenetic variants and the paucity of studies investigating fertility do not allow us to establish whether PORD is associated with infertility. Further studies on both women and men are needed to clarify this relationship.
细胞色素 P450 氧化还原酶（POR）缺乏症（PORD）的特征是男女两性均患有先天性肾上腺皮质增生症（CAH）和性别发育障碍（DSD）。POR 还可能与骨骼缺陷相关。然而，这些表型的患病率尚不清楚。
通过系统综述文献评估 POR 基因突变患者中 CAH、DSD 和不孕的患病率。
通过 PubMed、MEDLINE、Cochrane、Academic One Files、Google Scholar 和 Scopus 数据库进行文献检索。所有报告 POR 基因突变患者中 CAH、DSD、睾丸肾上腺残余瘤（TART）和生育信息的研究均被纳入。最后，计算异常表型的患病率。
最初检索到的 246 篇文章中，仅 48 篇被纳入，共纳入 119 名（46 名男性和 73 名女性）PORD 患者。我们还纳入了一名因 CAH 和 TART 就诊但无 DSD 的男性患者。该患者被发现携带复合杂合 POR 突变，自然成为父亲。所有患者均患有 CAH。复合杂合、纯合或单等位基因杂合变异患者的 DSD 发生率分别为 65.2%、82.1%和 82.1%。女性的患病率明显高于男性。POR 患者的 TART 患病率为 2.7%。仅 5 名 PORD 女性在接受辅助生殖技术后怀孕并生下健康婴儿。除最近报道的先例外，没有其他研究关注 POR 基因突变患者的男性不育。
本系统综述文献报告了 PORD 患者中 CAH、DSD 和 TART 的患病率。POR 基因突变的未知患病率以及缺乏研究生育力的研究使得我们无法确定 PORD 是否与不孕相关。需要对女性和男性进行进一步研究以阐明这种关系。
