Finney Esther L, Johnson Emilie K, Chen Diane, Lockart Barbara A, Yerkes Elizabeth B, Rowell Erin E, Madonna Mary Beth, Cheng Earl Y, Finlayson Courtney A
Department of Urology, Northwestern University Feinberg School of Medicine, Chicago, Illinois.
Division of Urology, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois.
J Endocr Soc. 2019 Mar 13;3(5):887-891. doi: 10.1210/js.2019-00023. eCollection 2019 May 1.
Individuals with differences/disorders of sex development (DSD) have increased rates of infertility. For children and youth undergoing prophylactic gonadectomy for malignancy risk, our institution offers gonadal tissue cryopreservation, an experimental technique to preserve fertility cryopotential. An 11-year-old girl with partial androgen insensitivity syndrome presented for evaluation for fertility preservation in the setting of a planned bilateral gonadectomy at an outside institution. At presentation, the patient had begun puberty with an elevated serum androgen level and was experiencing undesired virilization. She expressed a strong female gender identity, an understanding of the various treatment options, and a preference for gonadectomy to prevent further virilization. After thorough counseling with the patient and family in our institution's multidisciplinary DSD clinic, she underwent bilateral gonadectomy with gonadal tissue cryopreservation. Her gonadal pathologic examination demonstrated well-developed peripubertal testes, with present, albeit decreased, numbers of spermatogonial germ cells, decreased Leydig cells, and nonspecific degenerative changes. The patient and her family chose to maintain the cryopreserved tissue for the patient's potential future use. To the best of our knowledge, the present case is the first reported case of gonadal tissue cryopreservation in a patient with partial androgen insensitivity syndrome. Storage of gonadal tissue is a feasible method of germ cell preservation in patients with DSD undergoing gonadectomy, although further research advances are required to facilitate development of this tissue into mature gametes capable of biological fertility.
性发育差异/障碍（DSD）患者的不孕率有所增加。对于因存在恶性肿瘤风险而接受预防性性腺切除术的儿童和青少年，我们机构提供性腺组织冷冻保存，这是一种保存生育潜能的实验性技术。一名患有部分雄激素不敏感综合征的11岁女孩因外院计划进行双侧性腺切除术前来评估生育力保存情况。就诊时，患者已进入青春期，血清雄激素水平升高，且出现了不期望的男性化表现。她表达了强烈的女性性别认同，理解各种治疗选择，并倾向于进行性腺切除术以防止进一步男性化。在我们机构的多学科DSD诊所对患者及其家人进行全面咨询后，她接受了双侧性腺切除术并进行了性腺组织冷冻保存。她的性腺病理检查显示青春期前睾丸发育良好，精原生殖细胞数量虽有所减少但仍存在，睾丸间质细胞减少，以及非特异性退行性改变。患者及其家人选择保留冷冻保存的组织以备患者未来可能使用。据我们所知，本病例是首例报道的对部分雄激素不敏感综合征患者进行性腺组织冷冻保存的病例。对于接受性腺切除术的DSD患者，性腺组织储存是一种可行的生殖细胞保存方法，尽管需要进一步的研究进展来促进该组织发育成具有生物学生育能力的成熟配子。
