Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.
Urol Clin North Am. 2010 May;37(2):195-205. doi: 10.1016/j.ucl.2010.03.014.
The evaluation and management of neonates with ambiguous genitalia requires sensitivity, efficiency, and accuracy. The approach to these neonates is facilitated by a multidisciplinary team including urology, endocrinology, genetics, and psychiatry or psychology. Disorders of sex development (DSD) encompass chromosomal DSD, 46,XX DSD, and 46,XY DSD. The 46,XX DSD is the most common DSD and in the majority of these children congenital adrenal hyperplasia is the underlying etiology. The 46,XY DSD is a heterogeneous disorder that often results from a disruption in the production or response to testosterone, dihydrotestosterone, or Mullerian inhibitory substance. Chromosomal DSD includes conditions resulting from abnormal meiosis, including Klinefelter syndrome (47, XXY) and Turner syndrome. The evaluation of children with DSD demands a thorough physical examination, medical history, karyotype, metabolic panel, 17-OH progesterone, testosterone, luteinizing hormone, follicle stimulation hormone, and urinalysis. A radiographic evaluation should begin with an abdominal and pelvic ultrasound but may include magnetic resonance imaging, endoscopy, or laparoscopy.
对具有性别不明生殖器的新生儿的评估和管理需要敏感性、效率和准确性。多学科团队（包括泌尿科、内分泌学、遗传学、精神病学或心理学）可以为这些新生儿提供帮助。性发育障碍（DSD）包括染色体 DSD、46,XX DSD 和 46,XY DSD。46,XX DSD 是最常见的 DSD，在大多数这些儿童中，先天性肾上腺增生是潜在病因。46,XY DSD 是一种异质性疾病，通常是由于睾酮、二氢睾酮或缪勒管抑制物质的产生或对其的反应中断引起的。染色体 DSD 包括由于异常减数分裂引起的情况，包括克莱恩费尔特综合征（47, XXY）和特纳综合征。对 DSD 患儿的评估需要进行彻底的体格检查、病史、核型、代谢谱、17-羟孕酮、睾酮、黄体生成素、卵泡刺激素和尿液分析。放射学评估应从腹部和骨盆超声开始，但可能包括磁共振成像、内窥镜检查或腹腔镜检查。
