Vereecken T, Parent A S, Van Linthout C, Laterre M, Fudvoye J, Nechifor V, Demarche M, Pintiaux A
Assistant en Médecine générale.
Service de Pédiatrie, CHR Citadelle, Liège, Belgique.
Rev Med Liege. 2022 Dec;77(12):728-732.
Complete androgen insensitivity syndrome is the most frequent cause of disorder of sexual development in 46 XY patients. It is caused by mutations of the AR gene coding for the androgen receptor. Transmission is X-linked and mutations are most of the time inherited. It leads to a complete lack of response to androgen resulting in the presence of female external genitalia in 46 XY patients, normal but undescended testes and lack of female internal genitalia due to the secretion of anti-Müllerian hormone by male gonads. Traditionally, gonadectomy was proposed before puberty to decrease the risk of gonadal malignancy. However, more recent studies underlined the benefits of postponing gonadectomy until after pubertal development. Benefits of deferred gonadectomy are spontaneous pubertal development through peripheral aromatization of testosterone into oestrogens and the chance for the patient to have an active role in the decision-making process. After gonadectomy, hormone replacement therapy is required in order to prevent complications due to hypogonadism such as osteoporosis, cardiovascular diseases and a reduction of life expectancy.
完全性雄激素不敏感综合征是46,XY患者性发育障碍最常见的原因。它由编码雄激素受体的AR基因突变引起。遗传方式为X连锁，突变大多是遗传性的。它导致对雄激素完全缺乏反应，使得46,XY患者出现女性外生殖器、正常但未降入阴囊的睾丸，且由于男性性腺分泌抗苗勒管激素而缺乏女性内生殖器。传统上，建议在青春期前进行性腺切除术以降低性腺恶性肿瘤的风险。然而，最近的研究强调了将性腺切除术推迟到青春期发育之后的益处。延迟性腺切除术的益处包括通过睾酮在外周芳香化转化为雌激素实现自发的青春期发育，以及患者有机会在决策过程中发挥积极作用。性腺切除术后，需要进行激素替代治疗以预防性腺功能减退引起的并发症，如骨质疏松、心血管疾病和预期寿命缩短。
