未经证实:一些性别发育(DSD)条件不同的个体接受医学指示的预防性性腺切除术。DSD患者的性腺可能含有生殖细胞和前体,对未来的生育力保护和激素恢复感兴趣的患者可以参与DSD特异性研究方案以冷冻保存该组织。然而,目前尚不清楚有多少提供性腺组织冷冻保存(GTC)的提供者或机构,以及DSD的GTC在美国(US)的普及程度.生育协会的儿科倡议网络(PIN)和非肿瘤条件委员会试图评估DSD患者的GTC现状。
UNASSIGNED:通过专业协会和研究网络的特殊兴趣小组向护理DSD患者的提供者发送了电子调查。
UNASSIGNED:该调查于2021年11月15日至2022年3月14日期间进行。共有155家服务提供者对调查作出回应,其中132名受访者照顾DSD患者,78人在为DSD诊断患者提供医学指示性腺切除术的机构工作。他们代表了55个美国机构,包括47个儿科医院,和5个国际网站(加拿大,丹麦,德国,卡塔尔)。个别提供者,41%的DSD患者在预防性性腺切除术后提供冷冻保存(32/78)。在机构层面,54.4%(24/46)的机构可获得医学上指示的性腺切除术后的GTC。GTC用于各种DSD诊断,最常见的是45,X/46,XYDSD(即,具有Y染色体物质和混合性腺发育不全的特纳综合征),睾丸DSD,完全雄激素不敏感综合征(CAIS),和完全的性腺发育不全.回应显示了GTC实践的区域趋势,中西部有83.3%的机构,东北地区66.7%,西部地区占54.6%,和35.3%在南方提供GTC。所有代表机构(100%)发送性腺组织进行病理评估,和22.7%保存组织用于研究目的。
UNASSIGNED:我们调查中一半的美国机构提供性腺切除术后的GTC,尽管少数人目前正在为研究目的保存组织。GTC适用于多种DSD条件。未来的研究将集中在检查生殖细胞的存在和质量,以支持与DSD患者的生育力保护相关的临床决策。
Some individuals with differences of sex development (DSD) conditions undergo medically indicated prophylactic gonadectomy. Gonads of individuals with DSD can contain germ cells and precursors and patients interested in future fertility preservation and hormonal restoration can participate in DSD-specific research protocols to cryopreserve this tissue. However, it is unclear how many providers or institutions offer gonadal tissue cryopreservation (GTC) and how widespread GTC for DSD is across the United States (US). The Pediatric Initiative Network (PIN) and Non-Oncologic Conditions committees of the Oncofertility Consortium sought to assess the current state of GTC for patients with DSD.
An electronic survey was sent to providers caring for patients with DSD via special interest groups of professional societies and research networks.
The survey was administered between November 15, 2021 and March 14, 2022. A total of 155 providers responded to the survey, of which 132 respondents care for patients with DSD, and 78 work at facilities that offer medically indicated gonadectomy to patients with DSD diagnoses. They represented 55 US institutions including 47 pediatric hospitals, and 5 international sites (Canada, Denmark, Germany, Qatar). Of individual providers, 41% offer cryopreservation after prophylactic gonadectomy for patients with DSD (32/78). At an institutional level, GTC after medically indicated gonadectomy is available at 54.4% (24/46) of institutions. GTC is offered for a variety of DSD diagnoses, most commonly 45,X/46,XY DSD (i.e., Turner Syndrome with Y-chromosome material and mixed gonadal dysgenesis), ovotesticular DSD, complete androgen insensitivity syndrome (CAIS), and complete gonadal dysgenesis. Responses demonstrate regional trends in GTC practices with 83.3% of institutions in the Midwest, 66.7% in the Northeast, 54.6% in the West, and 35.3% in the South providing GTC. All represented institutions (100%) send gonadal tissue for pathological evaluation, and 22.7% preserve tissue for research purposes.
GTC after gonadectomy is offered at half of the US institutions represented in our survey, though a minority are currently preserving tissue for research purposes. GTC is offered for several DSD conditions. Future research will focus on examining presence and quality of germ cells to support clinical decision making related to fertility preservation for patients with DSD.