Department of Endocrinology and Reproductive medicine, Hôpital Pitié Salpêtrière, Sorbonne Université Médecine, Center for rare endocrine disorders, ERN HCP, Paris, France.
Department of Endocrinology and Reproductive medicine, Hôpital Pitié Salpêtrière, Sorbonne Université Médecine, Center for rare endocrine disorders, ERN HCP, Paris, France.
Ann Endocrinol (Paris). 2022 Jun;83(3):177-180. doi: 10.1016/j.ando.2022.04.013. Epub 2022 Apr 21.
Differences or disorders of sex development (DSD) include various congenital conditions in which chromosomal, gonadal, or anatomical sex development is atypical. The incidence varies according to the category of DSD but the total incidence is high if hypospadias and undescended testes are included. Fertility prospects may be a concern for DSD patients and their parents. With the development of modern medical technologies and treatment opportunities, fertility diagnostics, information, and treatment have changed. Assisted reproductive technology has developed during the past decades and has become more available with an improving success rate. Intracytoplasmic sperm injection and testicular sperm retrieval, have further improved the possibilities for men with DSD to become biological parents. Some studies have determined the presence of germ cells in the gonads of patients with DSD suggesting that the potential for fertility may be higher than previously thought. However, fertility outcomes among individuals with DSD have not been fully investigated. Moreover, previous study showed that information on fertility problems and treatment possibilities given to patients with DSD needs to be improved. The use of registries to study fertility outcomes is essential for a better knowledge of fertility in patients with these rare conditions.
性发育差异或障碍（DSD）包括各种先天性疾病，其中染色体、性腺或解剖性别发育不典型。发病率因 DSD 类别而异，但如果包括尿道下裂和隐睾，则总发病率较高。生育前景可能是 DSD 患者及其父母关心的问题。随着现代医疗技术和治疗机会的发展，生育力诊断、信息和治疗已经发生了变化。辅助生殖技术在过去几十年中得到了发展，随着成功率的提高，这种技术变得更加普及。胞浆内精子注射和睾丸精子提取进一步提高了 DSD 男性成为生物学父母的可能性。一些研究已经确定了 DSD 患者性腺中生殖细胞的存在，这表明生育能力的可能性高于先前的预期。然而，DSD 个体的生育结局尚未得到充分研究。此外，先前的研究表明，需要改善向 DSD 患者提供有关生育问题和治疗可能性的信息。使用登记处研究生育结局对于更好地了解这些罕见疾病患者的生育能力至关重要。
