PSYCHOBIOLOGY OF CONGENITAL ADRENAL HYPERPLASIA (CAH)

先天性肾上腺增生症 (CAH) 的心理生物学

• 批准号: 6521275
• 负责人: HEINO FL MEYER-BAHLBURG
• 金额: $ 13.82万
• 依托单位: NEW YORK STATE PSYCHIATRIC INSTITUTE DBA RESEARCH FOUNDATION FOR MENTAL HYGIENE, INC
• 依托单位国家: 美国
• 财政年份: 2000
• 资助国家: 美国
• 起止时间: 2000-03-15 至 2005-02-28
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6521275
• 关键词: adult human (21+); behavioral /social science research tag; clinical research; cognition disorders; congenital adrenal hyperplasia; developmental psychology; enzyme deficiency; family genetics; female reproductive system surgery; hormone therapy; human subject; interview; longitudinal human study; outcomes research; oxygenases; psychobiology; psychological tests; psychometrics; psychosexual development; quality of life; questionnaires; sex behavior; sexual orientation; statistics /biometry

The overall objective of the project is the investigation of biological factors contributing to psychosexual differentiation in general, and of management regimens (especially genital surgery and hormonal replacement therapy) that are likely to influence long-term behavioral functioning and quality of life in patients with intersexuality. For this purpose, we propose to evaluate aspects of the behavioral development and long-term outcome of adult women (age 18 years and up) with one of the major forms of the syndrome of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency: prenatal-onset classical CAH (C-CAH, including both saltwasters, SW, and simple virilizers, SV) and non- classical or late-onset CAH (NC-CAH), and to search for associations of the behavioral phenotype with endocrine phenotype and molecular genotype. We expect that excess androgen exposure, especially during prenatal development, effects partial behavioral masculinization, in interaction with molecular genotype. Participants will be 50 women each with C-CAH-SW and C-CAH-SV, 100 women with NC-CAH, and 50 non- CAH adults sisters or female cousins of the patients. Assessments will include a battery of interviews, questionnaires, and psychometric tests covering mental health, gender identity and gender-related behavior, sexual functioning, selected cognitive abilities, and subjective quality of life, as well as a (mostly anthropometric) physical exam and historical data from the medical chart. The project will employ a quasi-experimental design for a cross-sectional comparison of the three endocrinologically and genetically defined groups of CAH patients to each other and to control women. The findings will contribute to our understanding of psychosexual differentiation in general and to the resolution of ongoing major controversies in the clinical management of patients with intersexuality.

该项目的总体目标是调查总体上导致性心理分化的生物因素，以及可能影响双性患者长期行为功能和生活质量的治疗方案（特别是生殖器手术和激素替代疗法） 。为此，我们建议对患有 21-羟化酶缺乏所致先天性肾上腺增生 (CAH) 综合征主要形式之一的成年女性（18 岁及以上）的行为发展和长期结果进行评估：产前发作的经典 CAH（C-CAH，包括盐浪费型 SW 和简单男性化型 SV）和非经典型或迟发性 CAH (NC-CAH)，以及寻找行为表型与内分泌表型和分子基因型的关联。 我们预计，过量的雄激素暴露，特别是在产前发育期间，与分子基因型相互作用，会影响部分行为男性化。参与者将包括 50 名患有 C-CAH-SW 和 C-CAH-SV 的女性、100 名患有 NC-CAH 的女性以及 50 名非 CAH 成人姐妹或患者的表兄弟姐妹。评估将包括一系列访谈、问卷和心理测试，涵盖心理健康、性别认同和性别相关行为、性功能、选定的认知能力和主观生活质量，以及（主要是人体测量）体检和历史记录来自医疗图表的数据。 该项目将采用准实验设计，对三组内分泌和基因定义的 CAH 患者进行横断面比较，并以女性为对照。这些发现将有助于我们对性心理分化的总体理解，并有助于解决双性患者临床治疗中持续存在的重大争议。

项目成果

Gender and sexuality in classic congenital adrenal hyperplasia.

经典先天性肾上腺增生症中的性别和性行为。

• DOI: 10.1016/s0889-8529(08)70024-0
• 发表时间: 2001
• 期刊: Endocrinology and metabolism clinics of North America.
• 作者: Meyer-Bahlburg,HF

The Recalled Childhood Gender Questionnaire-Revised: a psychometric analysis in a sample of women with congenital adrenal hyperplasia.

回顾童年性别问卷修订版：对患有先天性肾上腺增生症的女性样本进行心理测量分析。

• DOI: 10.1080/00224490609552335
• 发表时间: 2006
• 期刊: Journal of sex research
• 影响因子: 3.6
• 作者: Meyer-Bahlburg,HeinoFL;Dolezal,Curtis;Zucker,KennethJ;Kessler,SuzannaJ;Schober,JustineM;New,MariaI
• 通讯作者: New,MariaI