一名46 XX核型、患先天性肾上腺皮质增生症且自幼按男性抚养的患者，子宫缺如及精阜存在：病例报告并文献复习
Absence of uterus and presence of verumontanum in a 46 XX patient with Congenital adrenal hyperplasia reared as male: A case report with literature review.
作者信息
Bapir Rawa, Aghaways Ismaeel, Ahmed Shaho F, Hama Nali H, Abdullah Ari M, Tahir Soran H, Najmadden Zana B, Kakamad Fahmi H, Qadir Aso N, Mikael Tomas M
机构信息
Smart Health Tower, Madam Mitterrand Street, Sulaimani, Kurdistan, Zip code: 46001, Iraq.
Kscien Organization, Hamdi Street., Azadi Mall, Sulaimani, Kurdistan, Zip code: 46001, Iraq.
出版信息
Urol Case Rep. 2025 Mar 26;60:103028. doi: 10.1016/j.eucr.2025.103028. eCollection 2025 May.
Congenital adrenal hyperplasia (CAH) is an inherited disorder causing adrenal hormone imbalance and organ overgrowth, leading to phenotype-genotype mismatches. A 10-year-old phenotypic male with impalpable testes and hypospadias had ambiguous genitalia and an empty scrotum. Imaging showed intra-abdominal gonads and no uterus. Blood tests revealed low cortisol, high ACTH, and 17-OHP. Karyotyping confirmed 46 XX. CAH can virilize 46 XX individuals, sometimes resulting in male assignment. Late presentation with male identity may support gender choice for better psychological outcomes.
先天性肾上腺皮质增生症（CAH）是一种遗传性疾病，可导致肾上腺激素失衡和器官过度生长，从而导致表型与基因型不匹配。一名10岁的表型男性，睾丸无法触及且患有尿道下裂，生殖器模糊，阴囊空虚。影像学检查显示腹内性腺，无子宫。血液检查显示皮质醇水平低、促肾上腺皮质激素（ACTH）水平高和17-羟孕酮（17-OHP）水平高。染色体核型分析证实为46,XX。CAH可使46,XX个体男性化，有时导致按男性分配性别。以男性身份出现较晚可能支持为获得更好的心理结果而进行性别选择。
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