Student Research Committee, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
M.Sc. In Midwifery, School of Nursing and Midwifery, Mashhad University of Medical Sciences, Mashhad, Iran.
Syst Biol Reprod Med. 2021 Oct;67(5):323-336. doi: 10.1080/19396368.2021.1937376. Epub 2021 Jul 1.
Disorders of sex development (DSD) are a wide-ranging group of complex conditions that influence chromosomal, gonadal, and phenotypic sex. The prevalence of DSD is very low, but affected patients deserve individualized management to improve psychological, sexual, and reproductive outcomes. This review aims to clarify the fertility potential of DSD patients who can be reared as females and their chance of becoming pregnant, especially using assisted reproductive techniques (ART). Due to the effects of DSD on internal and external genital organs, these conditions result in varying degrees of fertility potential. Fertility rate depends on the phenotype and is inversely related to the severity of the disorder. Reproductive endocrinologists and infertility specialists must be considered active partners of the interdisciplinary treatment team. With current advances in ART, pregnancy is more achievable in patients who were considered infertile at first glance. Due to the complexity of the medical management in DSD patients, more studies should be conducted to conclusively suggest the best choice for improving their fertility potential.: AIS: Androgen Insensitivity Syndrome; AMH: Anti-Müllerian Hormone; ART: Assisted Reproductive Technology; ASRM: American Society for Reproductive Medicine; CAH: Congenital Adrenal Hyperplasia; CAIS: Complete Androgen Insensitivity Syndrome; DHT: Dihydrotestosterone; DSD: Disorders of Sexual Development; FSH: Follicle Stimulating Hormone; GD: Gonadal Dysgenesis; ICSI: Intracytoplasmic Sperm Injection; IUGR: Intrauterine Growth Restriction; IVF: In Vitro Fertilization; IVF-ET: IVF and Embryo Transfer; LH: Luteinizing Hormone; MGD: Mixed Gonadal Dysgenesis; MRI: Magnetic Resonance Imaging; MRKH: Mayer-Rokitansky-Kuster-Hauser; US: Ultrasonography; HSG: Hysterosalpingography; PAIS: Partial Androgen Insensitivity Syndrome; PGD: Preimplantation Genetic Diagnosis; POR: P450 Oxidoreductase; PROM: Premature Rupture of Membranes; TS: Turner Syndrome; 17β-HSD III: 17β-Hydroxysteroid Dehydrogenase III; 21-OHD: 21-hydroxylase deficiency; 5α-RD-2: 5α-reductase-2.
性发育障碍（DSD）是一组广泛的复杂疾病，影响染色体、性腺和表型性别。DSD 的患病率非常低，但受影响的患者应进行个体化管理，以改善心理、性和生殖结局。本综述旨在阐明可作为女性抚养的 DSD 患者的生育潜力及其怀孕的机会，特别是使用辅助生殖技术（ART）。由于 DSD 对内、外生殖器的影响，这些疾病导致生育潜力的程度不同。生育能力取决于表型，与疾病的严重程度成反比。生殖内分泌学家和不孕专家必须被视为多学科治疗团队的积极合作伙伴。随着 ART 的当前进展，最初被认为不孕的患者更有可能怀孕。由于 DSD 患者的医疗管理复杂，应进行更多的研究，以明确提出改善其生育潜力的最佳选择。: AIS: 雄激素不敏感综合征; AMH: 抗苗勒管激素; ART: 辅助生殖技术; ASRM: 美国生殖医学学会; CAH: 先天性肾上腺增生; CAIS: 完全雄激素不敏感综合征; DHT: 二氢睾酮; DSD: 性发育障碍; FSH: 卵泡刺激素; GD: 性腺发育不良; ICSI: 胞浆内精子注射; IUGR: 宫内生长受限; IVF: 体外受精; IVF-ET: 体外受精和胚胎移植; LH: 黄体生成素; MGD: 混合性腺发育不良; MRI: 磁共振成像; MRKH: Mayer-Rokitansky-Kuster-Hauser; US: 超声检查; HSG: 子宫输卵管造影; PAIS: 部分雄激素不敏感综合征; PGD: 植入前遗传学诊断; POR: P450 氧化还原酶; PROM: 胎膜早破; TS: 特纳综合征; 17β-HSD III: 17β-羟类固醇脱氢酶 III; 21-OHD: 21-羟化酶缺乏症; 5α-RD-2: 5α-还原酶-2。
