[1]蔡芸莹,苏恒.抗苗勒管激素在儿童及青少年性发育异常疾病诊断中的应用进展[J].国际内分泌代谢杂志,2023,43(01):58-61.[doi:10.3760/cma.j.cn121383-20211107-11020]
 Cai Yunying,Su Heng..New perspective of anti-Mllerian hormone in disorders of sex development in children and adolescents[J].International Journal of Endocrinology and Metabolism,2023,43(01):58-61.[doi:10.3760/cma.j.cn121383-20211107-11020]
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抗苗勒管激素在儿童及青少年性发育异常疾病诊断中的应用进展()
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《国际内分泌代谢杂志》[ISSN:1673-4157/CN:12-1383/R]

卷:
43
期数:
2023年01期
页码:
58-61
栏目:
综述
出版日期:
2023-01-20

文章信息/Info

Title:
New perspective of anti-Müllerian hormone in disorders of sex development in children and adolescents
作者:
蔡芸莹苏恒
云南省第一人民医院内分泌代谢科,昆明理工大学附属医院,昆明 650032
Author(s):
Cai Yunying Su Heng.
Department of Endocrinology, The First People's Hospital of Yunnan Province, The Affiliated Hospital of Kunming University of Science and Technology, Kunming 650032, China
关键词:
抗苗勒管激素 性发育异常疾病 卵巢储备 体质性青春期发育延迟
Keywords:
Anti-Müllerian hormone Disorders of sex development Ovarian reserve Constitutional delay of growth and puberty
DOI:
10.3760/cma.j.cn121383-20211107-11020
摘要:
抗苗勒管激素是转化生长因子β超家族成员,其测定目前在临床上主要用于评估成年女性卵巢储备功能及预测绝经等领域。抗苗勒管激素在儿童及青少年时期生理变异小、两性差别明显,是评价睾丸及卵巢功能的可靠指标。近年来的研究发现,抗苗勒管激素的测定有助于判别睾丸组织的存在,评估睾丸支持细胞功能,对于性发育异常疾病,特别是隐睾、无睾、副中肾管永存综合征的诊断、Turner综合征卵巢功能的评估以及体质性青春期发育延迟的辅助诊断具有重要的临床意义。
Abstract:
Anti- Müllerian hormone(AMH)belongs to the transforming growth factor-beta superfamily. AMH is mainly used to evaluate ovarian reserve function and predict menopause in adult women. AMH has slight physiological variation and noticeable gender differences in children and adolescents, and is a reliable indicator for assessing testicular and ovarian function. In recent years, studies have found that the determination of AMH help identify the presence of testicular tissue and assess Sertoli cell function for sexual development disorders, especially cryptorchidism, anorchism, and Persistent Mullerian Duct Syndrome. It also has important clinical significance for ovarian function evaluation in Turner syndrome and diagnosis for constitutional delay of growth and puberty.

参考文献/References:

[1] 中华医学会儿科学分会内分泌遗传代谢学组.性发育异常的儿科内分泌诊断与治疗共识[J].中华儿科杂志,2019,57(6):410-418.DOI:10.3760/cma.j.issn.0578-1310.2019.06.003.
[2] Josso N,Rey RA.What does AMH tell us in pediatric disorders of sex development?[J].Front Endocrinol(Lausanne),2020,11:619.DOI:10.3389/fendo.2020.00619.
[3] Xu HY,Zhang HX,Xiao Z,et al.Regulation of anti-Müllerian hormone(AMH)in males and the associations of serum AMH with the disorders of male fertility[J].Asian J Androl,2019,21(2):109-114.DOI:10.4103/aja.aja_83_18.
[4] Lukas-Croisier C,Lasala C,Nicaud J,et al.Follicle-stimulating hormone increases testicular Anti-Mullerian hormone(AMH)production through sertoli cell proliferation and a nonclassical cyclic adenosine 5'-monophosphate-mediated activation of the AMH Gene[J].Mol Endocrinol,2003,17(4):550-561.DOI:10.1210/me.2002-0186.
[5] Chang C,Chen YT,Yeh SD,et al.Infertility with defective spermatogenesis and hypotestosteronemia in male mice lacking the androgen receptor in Sertoli cells[J].Proc Natl Acad Sci U S A,2004,101(18):6876-6881.DOI:10.1073/pnas.0307306101.
[6] Edelsztein NY,Racine C,di Clemente N,et al.Androgens downregulate anti-Müllerian hormone promoter activity in the Sertoli cell through the androgen receptor and intact steroidogenic factor 1 sites[J].Biol Reprod,2018,99(6):1303-1312.DOI:10.1093/biolre/ioy152.
[7] Misra M,MacLaughlin DT,Donahoe PK,et al.The role of Müllerian inhibiting substance in the evaluation of phenotypic female patients with mild degrees of virilization[J].J Clin Endocrinol Metab,2003,88(2):787-792.DOI:10.1210/jc.2002-020889.
[8] Lee MM,Donahoe PK,Silverman BL,et al.Measurements of serum müllerian inhibiting substance in the evaluation of children with nonpalpable gonads[J].N Engl J Med,1997,336(21):1480-1486.DOI:10.1056/NEJM199705223362102.
[9] Picard JY,Josso N.Persistent Müllerian duct syndrome:an update[J].Reprod Fertil Dev,2019,31(7):1240-1245.DOI:10.1071/RD17501.
[10] Kusumi M,Mitsunami M,Onoue H,et al.Complete androgen insensitivity syndrome and anti-Müllerian hormone levels before and after laparoscopic gonadectomy[J].Gynecol Minim Invasive Ther,2017,6(3):126-128.DOI:10.1016/j.gmit.2016.11.001.
[11] Johannsen TH,Main KM,Ljubicic ML,et al.Sex Differences in Reproductive Hormones During Mini-Puberty in Infants With Normal and Disordered Sex Development[J].J Clin Endocrinol Metab,2018,103(8):3028-3037.DOI:10.1210/jc.2018-00482.
[12] Vergier J,Bottin P,Saias J,et al.Fertility preservation in Turner syndrome:karyotype does not predict ovarian response to stimulation[J].Clin Endocrinol(Oxf),2019,91(5):646-651.DOI:10.1111/cen.14076.
[13] Oktay K,Bedoschi G,Berkowitz K,et al.Fertility preservation in women with Turner Syndrome:a comprehensive review and practical guidelines[J].J Pediatr Adolesc Gynecol,2016,29(5):409-416.DOI:10.1016/j.jpag.2015.10.011.
[14] Hamza RT,Mira MF,Hamed AI,et al.Anti-Müllerian hormone levels in patients with turner syndrome:relation to karyotype,spontaneous puberty,and replacement therapy[J].Am J Med Genet A,2018,176(9):1929-1934.DOI:10.1002/ajmg.a.40473.
[15] Visser JA,Hokken-Koelega AC,Zandwijken GR,et al.Anti-Müllerian hormone levels in girls and adolescents with Turner syndrome are related to karyotype,pubertal development and growth hormone treatment[J].Hum Reprod,2013,28(7):1899-1907.DOI:10.1093/humrep/det089.
[16] Persani L,Bonomi M,Cools M,et al.ENDO-ERN expert opinion on the differential diagnosis of pubertal delay[J].Endocrine,2021,71(3):681-688.DOI:10.1007/s12020-021-02626-z.
[17] Raivio T,Miettinen PJ.Constitutional delay of puberty versus congenital hypogonadotropic hypogonadism:genetics,management and updates[J].Best Pract Res Clin Endocrinol Metab,2019,33(3):101316.DOI:10.1016/j.beem.2019.101316.
[18] Bizzarri C,Cappa M.Ontogeny of Hypothalamus-Pituitary Gonadal Axis and Minipuberty:An Ongoing Debate?[J].Front Endocrinol(Lausanne),2020,11:187.DOI:10.3389/fendo.2020.00187.
[19] Rohayem J,Nieschlag E,Kliesch S,et al.Inhibin B,AMH,but not INSL3,IGF1 or DHEAS support differentiation between constitutional delay of growth and puberty and hypogonadotropic hypogonadism[J].Andrology,2015,3(5):882-887.DOI:10.1111/andr.12088.
[20] Gao Y,Du Q,Liu L,et al.Serum inhibin B for differentiating between congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty:a systematic review and meta-analysis[J].Endocrine,2021,72(3):633-643.DOI:10.1007/s12020-020-02582-0.

备注/Memo

备注/Memo:
通信作者:苏恒,Email:su_hen@hotmail.com
基金项目:云南省卫生和计划生育委员会医学人才培养项目(L-201624); 云南省万人计划“名医”专项(YNWR-MY-2019-020)
更新日期/Last Update: 2023-01-30