Reversal of idiopathic hypogonadotropic hypogonadism in a Chinese male cohort
Reversal of idiopathic hypogonadotropic hypogonadism in a Chinese male cohort
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逆转中国男性特发性低促性腺激素性性腺功能减退症
DOI：
10.1111/and.14583
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发表时间：
2022-09
期刊：
影响因子：
2.4
通讯作者：
Jihong Liu
中科院分区：
文献类型：
--
作者：
Taotao Sun;Wenchao Xu;Yinwei Chen;Yonghua Niu;Tao Wang;Shaogang Wang;Hao Xu;Jihong Liu
特发性低促性腺激素性性腺功能减退症是一种罕见的遗传异质性疾病，其特征是青春期不完全或缺失和不育。值得注意的是，部分IHH患者在治疗后可以恢复生殖内分泌功能，称为逆转。本研究旨在探讨IHH逆转患者的临床和遗传学特征。共有141名IHH男性患者入组并定期随访。他们的临床和遗传特征进行了收集和分析，以发现一些共同的逆转病例。这些中位年龄为21岁（四分位距：18-24）的IHH患者被分为逆转组（n = 13）和非逆转组（n = 128）。首次在逆转病例中证实了IL 17 RD、ERBB 4、DLX 5、EGFR、SEMA 4D、B3 GNT 1和CCKAR RSV。逆转组中致病性/可能致病性（P/LP）RSV由3个RSV组成（每位患者1个，包括PROKR 2 p.W178S、EGFR p.G630R和CCKAR p.S291del）。在临床随访中不能忽视IHH的复发。基础LH和T水平高的患者可能具有更大的逆转可能性，值得特别关注以确定是否发生逆转。逆转后的复发也需要监测。
Idiopathic hypogonadotropic hypogonadism (IHH) is a rare genetically heterogeneous disease and characterized by incomplete or absent puberty and infertility. It is worth noting that partial IHH patients could recover reproductive endocrine function following treatment, which is termed reversal. This study aimed to investigate clinical and genetic characteristics of IHH reversal patients. A total of 141 IHH male patients were enrolled and followed up regularly. Their clinical and genetic features were collected and analysed to discover something in common in reversal cases. These IHH patients with a median age of 21 years (interquartile range: 18–24) were divided into reversal group (n = 13) and non‐reversal group (n = 128). IL17RD, ERBB4, DLX5, EGFR, SEMA4D, B3GNT1 and CCKAR RSVs were demonstrated in reversal cases for the first time. Pathogenic/likely pathogenic (P/LP) RSVs consisted of 3 RSVs (one each patient, including PROKR2 p.W178S, EGFR p.G630R and CCKAR p.S291del) in reversal group. Reversal of IHH could not be ignored in clinical follow‐up. Patients with high levels of basal LH and T may harbour more possibility of reversal and worthy extra attention to identify whether reversal occurs or not. Relapse after reversal also needs to be monitored.
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影响因子：
5.8
作者：
Sidhoum, Valerie F.;Chan, Yee-Ming;Seminara, Stephanie B.
通讯作者：
Seminara, Stephanie B.
特发性性疾病性性低肿瘤的逆转：中国患者的一项队列研究。
影响因子：
2.9
作者：
Mao JF;Xu HL;Duan J;Chen RR;Li L;Li B;Nie M;Min L;Zhang HB;Wu XY
通讯作者：
Wu XY
影响因子：
9.8
作者：
Li, Quan;Wang, Kai
通讯作者：
Wang, Kai
DOI：
10.1210/jcem.87.1.8131
发表时间：
2002
期刊：
The Journal of clinical endocrinology and metabolism
影响因子：
--
作者：
Nelly Pitteloud;Frances J. Hayes;P. Boepple;Suzzunne DeCruz;S. Seminara;D. Maclaughlin;William F. Crowley
通讯作者：
Nelly Pitteloud;Frances J. Hayes;P. Boepple;Suzzunne DeCruz;S. Seminara;D. Maclaughlin;William F. Crowley
影响因子：
5.8
作者：
Lawaetz, Jacob Gerner;Hagen, Casper P.;Juul, Anders
通讯作者：
Juul, Anders