Elazizi Lamiaa, Elazime Zineb, Lahmamssi Fatima-Zahra, Salhi Houda, Elouahabi Hanan
Department of Endocrinology, Diabetology, Metabolic Diseases and Nutrition, Hassan II University Hospital Center, Fez, MAR.
Cureus. 2023 Feb 8;15(2):e34771. doi: 10.7759/cureus.34771. eCollection 2023 Feb.
Testicular agenesis, also called testicular regression syndrome (TRS), is a rare disease. It is defined by the complete absence of testicular tissue associated with a 46,XY karyotype. The phenotype is variable depending on when gonadal regression occurs in utero. Several etiologies have been identified. Here, we report two cases of TRS with an initial diagnosis of cryptorchidism and bilateral impalpable testes. The hormonal assessment showed an undetectable anti-Müllerian hormone (AMH) level and high gonadotropins. Also, radiological exploration did not show the testicles in a normal position, which was confirmed by a negative laparoscopy, establishing the diagnosis of TRS. Androgen replacement therapy along with psychological support to the patient is recommended is such cases.
睾丸发育不全,也称为睾丸退化综合征(TRS),是一种罕见疾病。它的定义是伴有46,XY核型的睾丸组织完全缺失。其表型因子宫内性腺退化发生的时间而异。已确定了几种病因。在此,我们报告两例最初诊断为隐睾症且双侧睾丸无法触及的TRS病例。激素评估显示抗苗勒管激素(AMH)水平检测不到且促性腺激素水平高。此外,影像学检查未显示睾丸处于正常位置,腹腔镜检查阴性证实了这一点,从而确立了TRS的诊断。对于此类病例,建议进行雄激素替代治疗并给予患者心理支持。