Halbertsma F J, Otten B J, Wijnen R M, Feitz W F
Academisch Kinderziekenhuis, Universitair Medisch Centrum St Radboud, Postbus 9101, 6500 HB Nijmegen.
Ned Tijdschr Geneeskd. 2004 Mar 6;148(10):484-7.
During operation for a right inguinal hernia, a baby boy aged 3 months was discovered to have internal female genitalia. Biopsies were taken from the gonads and blood was sent for karyotyping. The biopsies showed normal testicular tissue and the karyotyping result was 46XY, so the diagnosis of persistent Müllerian duct syndrome (PMDS) was made. Recovery was uneventful. At the age of 2 he underwent bilateral orchidopexy. PMDS is a rare disorder of the MIF synthesis or receptor. Patients present with cryptorchism, inguinal herniation of Müllerian structures, or problems related to the abnormal urinary tract, such as infection or stone formation. In cryptorchism, orchidopexy and life-long palpatory follow-up are advised. If urological symptoms occur, surgical removal of the Müllerian remnants may be considered. The prognosis for fertility is poor.
在为一名3个月大的男婴进行右侧腹股沟疝手术时，发现其具有女性内生殖器。从性腺取了活检组织，并采集血液进行染色体核型分析。活检显示睾丸组织正常，染色体核型分析结果为46XY，因此诊断为持续性苗勒管综合征（PMDS）。恢复过程顺利。2岁时他接受了双侧睾丸固定术。PMDS是一种罕见的抗苗勒管激素（MIF）合成或受体疾病。患者表现为隐睾、苗勒结构的腹股沟疝，或与异常尿路相关的问题，如感染或结石形成。对于隐睾，建议进行睾丸固定术并进行终身触诊随访。如果出现泌尿系统症状，可考虑手术切除苗勒管残余组织。生育预后较差。
