21-羟化酶缺陷症患者生育能力下降的影响因素和治疗

Influencing Factors and Treatment of Decreased Fertility in Patients with 21-hydroxylase Deficiency

随着检测技术的进步,21-羟化酶缺陷症(21-OHD)确诊患者逐渐增多,21-OHD常可导致患者生育能力下降。目前,女性和男性先天性肾上腺皮质增生症患者生育能力下降的原因及机制多样,可能与类固醇激素酶功能障碍引发的高雄激素血症和高孕酮血症、代谢综合征、生殖道畸形和功能障碍、心理社会因素等有关。恰当的糖皮质激素和盐皮质激素替代治疗、外生殖器手术或人工辅助生殖治疗有助于提高患者的生育能力,未来21-OHD导致不孕不育的机制仍需进一步探究。

With the progress of detection technology,the number of patients with 21-hydroxylase deficiency(21-OHD)is gradually increasing.21-OHD often leads to the decline of fertility.At present,the reason and mechanism of fertility decline in female and male patients with congenital adrenal hyperplasia are various,which may be related to hyperandrogenemia and hyperprogesteronism caused by steroid enzyme dysfunction,metabolic syndrome,reproductive tract malformation and dysfunction,psychosocial factors and so on.Appropriate glucocorticoid and mineralocorticoid replacement therapy,external genital surgery or artificial assisted reproductive therapy can help to improve the fertility of the patients.The mechanism of infertility caused by 21-OHD still needs to be further explored in the future.