Department of Obstetrics and Gynecology, University of North Carolina Chapel Hill, Chapel Hill, NC, USA.
Department of Pediatrics, Division of Pediatric Endocrinology, University of North Carolina Chapel Hill, Chapel Hill, NC, USA.
J Pediatr Endocrinol Metab. 2021 Feb 26;34(3):319-323. doi: 10.1515/jpem-2020-0304. Print 2021 Mar 26.
To characterize the age of ovarian failure in Turner Syndrome (TS) patients by karyotype.
Retrospective cohort study of individuals with TS at an academic university hospital. Subjects were seen in TS Clinic at UNC Hospital between 2014 and 2018. Individuals were analyzed by karyotype category (45X, 45X/46XX mosaicism, miscellaneous) and percentage of 45X cells. Age at follicle-stimulating hormone> 30 was defined as the age at loss of ovarian function.
A total of 79 patients were identified after excluding individuals with unknown ovarian function and those with Y chromosome material. Thirty-eight percent were 45X monosomic, 62% were 45X/46XX mosaic or miscellaneous karyotypes. Fifty-five of 79 (70%) patients had evidence of ovarian failure, median age of failure 11 years (IQR: 4,12). Ovarian failure was more prevalent among individuals with 45X karyotype (100%). The median age of ovarian failure for 45X patients (n=30) was 10 years old, which is significantly younger than other karyotypes (n=49), with a median of 15 years, p<0.01. Linear regression analysis found that 1 percentage point increase in 45X cells in the peripheral karyotype is associated with a 0.09 year decrease in age of ovarian failure (p value=0.01). Only 9% of individuals were referred for fertility counseling.
There is a lower prevalence of ovarian failure among individuals with mosaic TS karyotypes, and referral rate for fertility counseling of patients with TS is low. These findings are in line with published literature. The finding that percentage of 45X cells in peripheral karyotype is associated with earlier age of ovarian failure is novel and warrants further investigation in a larger prospective cohort.
通过核型分析描述特纳综合征（TS）患者卵巢衰竭的年龄。
这是一项在学术大学医院进行的特纳综合征患者回顾性队列研究。研究对象在 UNC 医院的 TS 诊所就诊于 2014 年至 2018 年期间。根据核型类别（45X、45X/46XX 嵌合体、其他）和 45X 细胞百分比对个体进行分析。促卵泡激素（FSH）>30 定义为卵巢功能丧失的年龄。
排除卵巢功能未知和存在 Y 染色体物质的个体后，共确定了 79 例患者。38%为 45X 单体性，62%为 45X/46XX 嵌合体或其他核型。79 例患者中有 55 例（70%）有卵巢衰竭的证据，衰竭的中位年龄为 11 岁（IQR：4，12）。45X 核型个体卵巢衰竭更为常见（100%）。45X 患者（n=30）的卵巢衰竭中位年龄为 10 岁，明显早于其他核型（n=49），中位年龄为 15 岁，p<0.01。线性回归分析发现，外周核型中 45X 细胞每增加 1%，卵巢衰竭的年龄就会减少 0.09 岁（p 值=0.01）。只有 9%的患者被转介进行生育咨询。
镶嵌型 TS 核型患者卵巢衰竭的发生率较低，TS 患者生育咨询的转诊率较低。这些发现与已发表的文献一致。外周核型中 45X 细胞的百分比与卵巢衰竭的年龄较早有关，这是一个新发现，需要在更大的前瞻性队列中进一步研究。
