Sorbonne University, Endocrine Unit, Reproductive Medicine, Centre de Référence des Maladies Endocriniennes Rares de la Croissance et du Développement (CRMERC), Endo-ERN (id 739527), Saint-Antoine Hospital, AP-HP, Paris, France.
Pediatric Endocrinology and Diabetology, Robert-Debré Hospital, Centre de Référence des Maladies Endocriniennes Rares de la Croissance et du Développement (CRMERC), Endo-ERN Paris, France.
Eur J Endocrinol. 2022 Nov 24;187(6):873-881. doi: 10.1530/EJE-22-0593. Print 2022 Dec 1.
A gonadectomy is currently recommended in patients with Turner syndrome (TS) and a 45,X/46,XY karyotype, due to a potential risk of gonadoblastoma (GB). However, the quality of evidence behind this recommendation is low.
This study aimed to evaluate the prevalence of GB, its characteristics, as well as its risk factors, according to the type of Y chromosomal material in the karyotype.
Our study within French rare disease centers included patients with TS and a 45,X/46,XY karyotype, without ambiguity of external genitalia. Clinical characteristics of the patients, their age at gonadectomy, and gonadal histology were recorded. The regions of the Y chromosome, the presence of TSPY regions, and the percentage of 45,X/46,XY mosaicism were evaluated.
A total of 70 patients were recruited, with a median age of 29.5 years (21.0-36.0) at the end of follow-up. Fifty-eight patients had a gonadectomy, at a mean age of 15 ± 8 years. GB was present in nine cases. Two were malignant, which were discovered at the age of 14 and 32 years, without metastases. Neither the percentage of XY cells within the 45,X/46,XY mosaicism nor the number of TSPY copies was statistically different in patients with or without GB (P = 0.37). However, the entire Y chromosome was frequent in patients with GB (6/9).
In our study, including a large number of patients with 45,X/46,XY TS, the prevalence of gonadoblastoma is 12.8%. An entire Y chromosome appears as the main risk factor of GB and should favor early gonadectomy.
About 10% of patients with TS have a karyotype containing Y chromosomal material: 45,X/46,XY. Its presence is related to the risk of GB. Therefore, a prophylactic gonadectomy is currently recommended in such patients. However, the quality of evidence is low. Our objective was to evaluate the prevalence of GB according to the type of Y-chromosomal material. We found a prevalence of GB of 12.8% in a cohort of 70 TS patients. No sign of hyperandrogenism was observed. The entire Y chromosome was the most frequent type of Y-material in patients with GB. As the prognosis of these tumors was good, a delay of surgery might be discussed.
特纳综合征（TS）伴 45,X/46,XY 核型患者目前建议行性腺切除术，因为存在发生性腺母细胞瘤（GB）的潜在风险。然而，该推荐的证据质量较低。
本研究旨在根据核型中 Y 染色体物质的类型，评估 GB 的发生率、其特征以及其危险因素。
我们的研究纳入了法国罕见疾病中心的 TS 伴 45,X/46,XY 核型患者，且外生殖器无性别模糊。记录患者的临床特征、性腺切除术的年龄和性腺组织学。评估 Y 染色体区域、TSPY 区域的存在以及 45,X/46,XY 嵌合体的百分比。
共纳入 70 例患者，中位随访年龄为 29.5 岁（21.0-36.0）。58 例患者行性腺切除术，平均年龄为 15±8 岁。9 例存在 GB。2 例为恶性，分别在 14 岁和 32 岁时发现，无转移。GB 患者与无 GB 患者的 45,X/46,XY 嵌合体中 XY 细胞的百分比或 TSPY 拷贝数均无统计学差异（P=0.37）。然而，在 9 例 GB 患者中，整条 Y 染色体均存在（6/9）。
在本研究中，包括了大量的 45,X/46,XY TS 患者，性腺母细胞瘤的发生率为 12.8%。整条 Y 染色体似乎是 GB 的主要危险因素，应尽早行性腺切除术。
约 10%的 TS 患者核型含有 Y 染色体物质：45,X/46,XY。其存在与 GB 的风险相关。因此，目前建议此类患者行预防性性腺切除术。然而，证据质量较低。我们的目的是根据 Y 染色体物质的类型评估 GB 的发生率。我们在 70 例 TS 患者的队列中发现，GB 的发生率为 12.8%。未观察到高雄激素血症的迹象。在患有 GB 的患者中，整条 Y 染色体是最常见的 Y 染色体物质类型。由于这些肿瘤的预后良好，手术时间可能需要讨论。
