Mandell J, Bromley B, Peters C A, Benacerraf B R
Division of Urology, Children's Hospital, Boston, Massachusetts, USA.
J Urol. 1995 Jun;153(6):1994-6.
Postnatal clinical and pathological correlation of sonographically identified genital malformations in 17 fetuses was undertaken to determine the outcome of these findings. Diagnoses confirmed at autopsy or by postnatal examination and surgery included male (XY) pseudohermaphroditism in 2 cases, hypospadias with chordee in 3, microphallus in 2, cloacal anomaly in 2, congenital adrenal hyperplasia in 3, penoscrotal transposition in 2, intra-abdominal testes in 1, megalourethra in 1 and cloacal exstrophy variant in 1. Additional abnormalities included congenital heart defects, cleft palate, and renal, anorectal, cranial and cerebral malformations. Four fetuses with a sonographically abnormal appearing phallus were found to have an endocrine disorder (3 congenital adrenal hyperplasia and 1 panhypopituitarism). Outcomes included 2 abortions and 1 neonatal death with the remaining neonates undergoing medical and reconstructive treatment. Prenatal detection of genital abnormalities can be helpful in evaluating those fetuses with severe multi-system anomalies as well as lesions more amenable to correlation in the neonatal period. Detection is particularly important in neonates with endocrine disorders, and complex genitourinary and anorectal malformations.
对17例经超声检查发现生殖器畸形的胎儿进行了产后临床与病理相关性研究，以确定这些检查结果的预后情况。尸检或产后检查及手术确诊的疾病包括2例男性（XY）假两性畸形、3例尿道下裂合并阴茎下弯、2例小阴茎、2例泄殖腔畸形、3例先天性肾上腺增生、2例阴茎阴囊转位、1例腹腔内睾丸、1例巨尿道和1例泄殖腔外翻变异型。其他异常包括先天性心脏缺陷、腭裂以及肾脏、肛门直肠、颅脑和脑部畸形。4例超声检查显示阴茎外观异常的胎儿被发现患有内分泌疾病（3例先天性肾上腺增生和1例全垂体功能减退）。结局包括2例流产和1例新生儿死亡，其余新生儿接受了药物治疗和重建治疗。产前检测生殖器异常有助于评估那些患有严重多系统异常以及在新生儿期更易于关联的病变的胎儿。检测对于患有内分泌疾病以及复杂泌尿生殖和肛门直肠畸形的新生儿尤为重要。
