Improving Outcomes in DSD

描述（申请人提供）：欧洲儿科内分泌学会（ESPE）和劳森·威尔金斯儿科内分泌学会（LWPES）关于阴阳人疾病管理的联合共识小组最近报告说，关于性发育障碍中性别认同的决定因素，还有很多问题有待澄清。患有性发育障碍（DSD）的新生儿主要根据其外生殖器的外观来分配抚养性别，因为;（1）这决定了什么样的外科手术是美容重建的最佳选择，（2）生殖器组织被用作生物标志物，间接确定产前发育期间中枢神经系统暴露于雄激素的程度。最近的长期结果研究表明，出生时外生殖器的外观无法预测高达25%的DSD患者的性别发育。如果新的，非侵入性的预测性别发展可以确定与生殖器表型和遗传性别结合使用，那么这些将添加到医生的工具包，以改善受影响的个人的结果。因此，拟议的研究将测量性别和人类听觉系统的性别二态性特征，这些特征受DSD患者和养育女性的产前雄激素暴露的影响。未受DSD影响的配对男性和女性将作为对照受试者。性别发展将通过一系列有效和可靠的问卷进行评估。听觉系统的测量将包括耳声发射（OAE）和听觉诱发电位（AEP）。我们将确定OAE和AEP是否能提高我们预测DSD患者性别发育的能力，并结合更传统的标记物，如生殖器表型和核型。拟议的研究非常符合NICHD的使命，即提高对性心理发展决定因素的认识，使受DSD影响的人提高对医疗管理的满意度，从而提高他们获得健康，富有成效的生活的机会。

DESCRIPTION (provided by applicant): The joint European Society of Pediatric Endocrinology (ESPE) and Lawson Wilkins Pediatric Endocrine Society (LWPES) Consensus Group on the Management of Intersex Disorders recently reported that Much remains to be clarified about the determinants of gender identity in disorders of sex development.10 Historically, newborns affected by disorders of sex development (DSD) have been assigned a sex of rearing based largely on the appearance of their external genitalia because; (1) this dictated what surgical procedures were optimal for cosmetic reconstruction, and (2) the genital tissue was used as a biomarker to indirectly determine the degree of androgen exposure that the central nervous system incurred during prenatal development. Recent long-term outcome studies reveal that the appearance of the external genitalia at birth fails to predict gender development in people with DSD up to 25% of the time. If novel, non-invasive predictors of gender development could be identified for use in conjunction with genital phenotype and genetic sex, then these would add to a physician's toolkit to improve outcomes for affected individuals. Thus, the proposed studies will measure gender, and sexually dimorphic characteristics of the human auditory system that are influenced by prenatal androgen exposure in people with DSD and reared female. Age-matched males and females not affected by DSD will serve as control subjects. Gender development will be assessed with a battery a valid and reliable questionnaires. Measures of the auditory system will include otoacoustic emissions (OAEs) and auditory evoked potentials (AEPs). We will determine if OAEs and AEPs improve our ability to predict gender development, in conjunction with more traditional markers such as genital phenotype and karyotype, in people with DSD. The proposed studies fit well with NICHD's mission to advance knowledge about the determinants of psychosexual development so that people affected by DSD have improved satisfaction with their medical management, thus improving their chance for healthy, productive lives.