George Sigin, Dagar Vikas, Chakrabarty Barun Kumar, Nagaraja N
Department of Pathology, AFMC, Pune, Maharashtra, India.
Department of Gynae & Obs, CH(SC), Pune, Maharashtra, India.
J Hum Reprod Sci. 2023 Apr-Jun;16(2):166-169. doi: 10.4103/jhrs.jhrs_49_23. Epub 2023 Jun 30.
Women with Triple X syndrome (TXS) appear to be at increased risk for decreased ovarian reserve; however, available data are limited. We present an asyndromic adult female with features of recurrent pregnancy loss and decreased ovarian reserve detected with mosaic Triple X syndrome (TXS). The patient was initially evaluated by a low-cost peripheral blood (PB) conventional karyotyping using standard cytogenetic protocols. Interphase fluorescence hybridisation was performed to confirm the diagnosis. Chromosomal microarray, which is a more expensive test, substantiated the presence of additional X chromosomes but failed to detect the presence of low level of mosaicism. Our case study emphasised the recommendation of performing a strategy-based cost-effective cytogenetic evaluation of all cases of decreased ovarian reserve or low anti-Müllerian hormone levels in a resource-constrained setting. It also highlighted the need for additional research to understand the natural history of ovarian function in TXS affected women throughout their lifespans.
患有XXX综合征（TXS）的女性似乎卵巢储备功能下降的风险增加；然而，现有数据有限。我们报告一例成年女性，她无相关综合征表现，但有复发性流产特征且检测发现为嵌合型XXX综合征（TXS）导致的卵巢储备功能下降。患者最初采用标准细胞遗传学方案通过低成本的外周血（PB）常规核型分析进行评估。进行了间期荧光原位杂交以确诊。染色体微阵列分析是一种更昂贵的检测方法，证实了额外X染色体的存在，但未能检测到低水平嵌合体的存在。我们的病例研究强调了在资源有限的情况下，对所有卵巢储备功能下降或抗苗勒管激素水平低的病例进行基于策略的成本效益高的细胞遗传学评估的建议。它还强调了需要进行更多研究，以了解受TXS影响的女性在其整个生命周期中卵巢功能的自然史。
