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一种罕见的舍雷舍夫斯基-特纳综合征表型变异型。

An uncommon phenotypical variant in the Shereshevsky-Turner syndrome.

作者信息

Dzenis I G, Antipina N N

出版信息

Hum Genet. 1979;52(3):275-9. doi: 10.1007/BF00278677.

DOI:10.1007/BF00278677
PMID:535888
Abstract

Three young girls of short stature and with somatic anomalies typical for the Shereshevsky-Turner syndrome are described. Signs of sexual maturation and menarche appeared on time. Later on, menstrual periods came to resemble juvenile bleedings. Karyotypes determined in lymphocyte culture were 45,X/46,XX/47,XXX; 45,X/46,XXp-; and 46,XXp-, respectively. A possibility of spontaneous sexual maturation in patients with the Shereshevsky-Turner syndrome is discussed.

摘要

本文描述了三名身材矮小且具有典型的舍格伦谢夫斯基-特纳综合征躯体异常的年轻女孩。性成熟体征和月经初潮按时出现。后来,月经周期变得类似于青春期前出血。淋巴细胞培养确定的核型分别为45,X/46,XX/47,XXX;45,X/46,XXp-;以及46,XXp-。文中讨论了舍格伦谢夫斯基-特纳综合征患者自发出现性成熟的可能性。

相似文献

1
An uncommon phenotypical variant in the Shereshevsky-Turner syndrome.一种罕见的舍雷舍夫斯基-特纳综合征表型变异型。
Hum Genet. 1979;52(3):275-9. doi: 10.1007/BF00278677.
2
Structural aberrations of the X chromosome in man.人类X染色体的结构畸变
Hum Genet. 1978 Apr 24;41(3):269-79. doi: 10.1007/BF00284761.
3
Serum FSH level below 10 mIU/mL at twelve years old is an index of spontaneous and cyclical menstruation in Turner syndrome.十二岁时血清 FSH 水平低于 10 mIU/mL 是特纳综合征自发和周期性月经的指标。
Endocr J. 2010;57(10):909-13. doi: 10.1507/endocrj.k10e-092. Epub 2010 Aug 24.
4
[Spontaneous menstruation in patients with Turner syndrome in our observations].[我们观察中特纳综合征患者的自然月经情况]
Ginekol Pol. 1998 Dec;69(12):1245-52.
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Spontaneous Sexual Development and Heavy Menstrual Bleeding in 45,X Monosomy and 45,X/47,XXX Mosaic Turner Syndrome and a Review of the Literature.45,X单体型和45,X/47,XXX嵌合型特纳综合征中的自发性性发育和月经过多及文献综述
J Pediatr Adolesc Gynecol. 2020 Oct;33(5):602-606. doi: 10.1016/j.jpag.2020.04.002. Epub 2020 Apr 18.
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Turner phenotype in mother and daughter.母亲和女儿的特纳氏综合征表型。
Obstet Gynecol. 1980 Dec;56(6):752-6.
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Karyotype classification, clinical manifestations and outcome in 124 Turner syndrome patients in China.在中国的 124 例特纳综合征患者中进行核型分类、临床表现和结局。
Ann Endocrinol (Paris). 2019 Feb;80(1):10-15. doi: 10.1016/j.ando.2017.10.011. Epub 2018 Mar 24.
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Pelvic ultrasonography in patients with Turner syndrome: age-related findings in different karyotypes.特纳综合征患者的盆腔超声检查:不同核型的年龄相关表现
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Phenotype, ovarian function, and growth in patients with 45,X/47,XXX Turner mosaicism: implications for prenatal counseling and estrogen therapy at puberty.45,X/47,XXX特纳镶嵌体患者的表型、卵巢功能及生长发育:对产前咨询和青春期雌激素治疗的意义
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[The Shereshevskii--Turner syndrome in monozygotic twins].[单卵双胞胎中的舍雷舍夫斯基 - 特纳综合征]
Probl Endokrinol (Mosk). 1975 Sep-Oct;21(5):37-42.

引用本文的文献

1
Normal growth and normalization of hypergonadotropic hypogonadism in atypical Turner syndrome (45,X/46,XX/47,XXX). Correlation of body height with distribution of cell lines.非典型特纳综合征(45,X/46,XX/47,XXX)中促性腺激素分泌过多性性腺功能减退的正常生长及恢复正常。身高与细胞系分布的相关性。
Eur J Pediatr. 1994 Jun;153(6):451-5. doi: 10.1007/BF01983411.
2
Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features.特纳综合征与女性性染色体畸变:推导临床特征发展中涉及的主要因素。
Hum Genet. 1995 Jun;95(6):607-29. doi: 10.1007/BF00209476.

本文引用的文献

1
[Turner syndrome with fully developed secondary sex characteristics and fertility].具有完全发育的第二性征和生育能力的特纳综合征
Acta Endocrinol (Copenh). 1960 Nov;35:397-404.
2
The anatomy and histology of XO human embryos and fetuses.
Anat Rec. 1966 Jul;155(3):369-83. doi: 10.1002/ar.1091550309.
3
Turner's phenotype with menstruation, XO karyotype and germ cells in the ovary. Report of a case.具有月经、XO核型及卵巢内生殖细胞的特纳综合征表型。病例报告。
Obstet Gynecol. 1969 Jun;33(6):818-21.
4
Germ cells in the ovaries of XO female infants.
Am J Clin Pathol. 1968 Apr;49(4):521-6. doi: 10.1093/ajcp/49.4.521.
5
[Hemorrhagic Turner's syndrome (without mosaicism)].[出血性特纳综合征(无嵌合体)]
Bull Fed Soc Gynecol Obstet Lang Fr. 1970 Sep-Oct;22(4):405-9.
6
Additional evidence of gradual loss of germ cells in the pathogenesis of streak ovaries in Turner's syndrome.特纳综合征中条索状卵巢发病机制中生殖细胞逐渐丢失的更多证据。
J Med Genet. 1971 Dec;8(4):540-4. doi: 10.1136/jmg.8.4.540.
7
Fertility in a 45,X female.一名45,X女性的生育能力。
Pediatrics. 1971 Apr;47(4):770-3.
8
Turner's syndrome with menstruation.伴有月经的特纳综合征。
J Med Genet. 1972 Mar;9(1):100-2. doi: 10.1136/jmg.9.1.100.
9
Gonadal dysgenesis with atypical bleeding, functional cyst in rudimentary streak gonads.性腺发育不全伴非典型出血,残迹条索状性腺中的功能性囊肿。
Am J Obstet Gynecol. 1974 Jun 15;119(4):565-7. doi: 10.1016/0002-9378(74)90223-3.
10
Etiology and treatment of dysfunctional uterine bleeding.
Obstet Gynecol. 1974 Jul;44(1):1-13.