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首页> 外文期刊>American journal of medical genetics, Part A >Incidence, puberty, and fertility in 45,X/47,XXX mosaicism: Report of a patient and a literature review
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Incidence, puberty, and fertility in 45,X/47,XXX mosaicism: Report of a patient and a literature review

机译：45，X / 47，XXX Mosaicism的发病率，青春期和生育能力：患者的报告和文献综述

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摘要

Turner syndrome (TS), characterized by short stature and premature ovarian failure, is caused by chromosomal aberrations with total or partial loss of one of the two X chromosomes. Spontaneous puberty, menarche, and pregnancy occur in some patients depending on the abnormality of the X. Moreover, spontaneous pregnancy is uncommon (0.5%) for TS with 45,X monosomy. Among TS patients, 45,X/47,XXX karyotype is extremely rare. Previous reports have demonstrated that TS with 45,X/47,XXX is less severe than common TS due to higher occurrence of puberty (83%), menarche (57–67%), and fertility (14%) and lower occurrence of congenital anomalies (5%). However, TS mosaicism may not reduce the frequency of short stature. We diagnosed a 10‐year‐girl with TS with 45,X/47,XXX mosaicism who presented with short stature. She showed mild TS phenotype including short stature but had spontaneous puberty. Based on our case and previous reports, we expect that girls with 45,X/47,XXX mosaicism may progress through puberty normally, without estrogen therapy. Therefore, it is necessary to consider specific guidelines for clinical decisions surrounding pubertal development and fertility in TS with 45,X/47,XXX karyotype.
机译：特征在于身材矮小和过早卵巢衰竭的特纳综合征（TS）是由染色体像差引起的，其两种X染色体中的一种全部或部分损失。一些患者发生自发青春期，月经淫荡和怀孕，这取决于X的异常，自发妊娠与45，x单体术的TS罕见（＆ 0.5％）。在TS患者中，45，X / 47，XXX核型非常罕见。以前的报道已经证明，由于青春期较高（83％），初潮（57-67％）和生育率（14％）和较低的先天性发生，XXX患有45，X / 47，XXX的TS比常见TS严重严重严重。异常（＆ 5％）。然而，Ts马赛族可能不会降低较短地形的频率。我们诊断出了一个10岁的女孩，有45，x / 47，xxx马赛族的xxx mosaicism呈现矮小的身材。她展示了轻度TS表型，包括矮小的身材，但具有自发性青春期。基于我们的案例和之前的报告，我们预计XXX Mosaicism的女孩可能会正常通过青春期进行，没有雌激素治疗。因此，有必要考虑临床决策的具体指导，普及特普国发育和TS的生育能力为45，X / 47，XXX核型。

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