Centre de Recherche Saint-Antoine (CRSA), INSERM UMR_S938, Sorbonne Université, Paris, France.
Centro de Investigaciones Endocrinológicas "Dr. César Bergadá" (CEDIE), CONICET-FEI-División de Endocrinología, Hospital de Niños Ricardo Gutiérrez, Buenos Aires, Argentina.
Front Endocrinol (Lausanne). 2020 Sep 8;11:619. doi: 10.3389/fendo.2020.00619. eCollection 2020.
Disorders of sex development (DSD) are conditions where genetic, gonadal, and/or internal/external genital sexes are discordant. In many cases, serum testosterone determination is insufficient for the differential diagnosis. Anti-Müllerian hormone (AMH), a glycoprotein hormone produced in large amounts by immature testicular Sertoli cells, may be an extremely helpful parameter. In undervirilized 46,XY DSD, AMH is low in gonadal dysgenesis while it is normal or high in androgen insensitivity and androgen synthesis defects. Virilization of a 46,XX newborn indicates androgen action during fetal development, either from testicular tissue or from the adrenals or placenta. Recognizing congenital adrenal hyperplasia is usually quite easy, but other conditions may be more difficult to identify. In 46,XX newborns, serum AMH measurement can easily detect the existence of testicular tissue, leading to the diagnosis of ovotesticular DSD. In sex chromosomal DSD, where the gonads are more or less dysgenetic, AMH levels are indicative of the amount of functioning testicular tissue. Finally, in boys with a persistent Müllerian duct syndrome, undetectable or very low serum AMH suggests a mutation of the AMH gene, whereas normal AMH levels orient toward a mutation of the AMH receptor.
性发育障碍（DSD）是指遗传、性腺和/或内外生殖器性别不一致的情况。在许多情况下，血清睾酮测定不足以进行鉴别诊断。抗苗勒管激素（AMH）是一种由未成熟睾丸支持细胞大量产生的糖蛋白激素，可能是一个非常有用的参数。在雄激素不敏感和雄激素合成缺陷的低分化 46,XY DSD 中，AMH 水平降低，而在性腺发育不良中则正常或升高。46,XX 新生儿的男性化表明胎儿发育过程中存在雄激素作用，来自睾丸组织或肾上腺或胎盘。先天性肾上腺增生症通常很容易识别，但其他情况可能更难识别。在 46,XX 新生儿中，血清 AMH 测量可以很容易地检测到睾丸组织的存在，从而导致卵睾性 DSD 的诊断。在性染色体 DSD 中，性腺或多或少发育不良，AMH 水平提示存在功能性睾丸组织的数量。最后，在持续存在 Müllerian 管综合征的男孩中，血清 AMH 无法检测或非常低提示 AMH 基因发生突变，而正常 AMH 水平提示 AMH 受体发生突变。
