Sandberg David E, Gardner Melissa, Lapham Zoe K
Department of Pediatrics, Susan B. Meister Child Health Evaluation and Research (CHEAR) Center, Michigan Medicine, University of Michigan Medical School, Ann Arbor, MI 48109, USA.
Division of Pediatric Psychology, Department of Pediatrics, University of Michigan Medical School, Ann Arbor, MI 48109, USA.
J Clin Endocrinol Metab. 2025 Jan 21;110(Supplement_1):S46-S55. doi: 10.1210/clinem/dgae668.
The goal of this review is to move beyond summarizing what is known about psychosexual development in females with classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency-commonly studied as a natural experiment to understand prenatal androgen effects in 46,XX individuals. Instead, it will explore the various aspects of the condition that significantly impact the daily lives of both male and female patients and their families, with a particular focus on the implications for psychosocial, educational, and vocational adaptation.
This work represents a selective, yet balanced review of papers highlighting potential threats to positive psychological adaptation in both male and female individuals with CAH.
This review outlines the effects of both cross-cutting risks (such as challenges related to parenting and healthcare management) and CAH-specific risks (including growth and appearance changes, psychiatric and neurocognitive issues, reduced reproductive function and interest in parenting, and masculinization in girls and women) on psychosocial adaptation. Opportunities for optimizing psychological outcomes of those with CAH are presented.
Routine psychosocial screening of patient and family risk and resilience factors is recommended to identify areas of concern applicable to individual patients and families. Such screening should include assessment of both cross-cutting and condition-specific factors. This, in turn, provides a pathway forward for providing quality team-based patient-centered care.
本综述的目的不仅仅是总结已知的关于因21-羟化酶缺乏导致经典型先天性肾上腺皮质增生症（CAH）的女性心理性发展情况——通常作为一项自然实验来研究46,XX个体的产前雄激素效应。相反，它将探讨该病症对男性和女性患者及其家庭日常生活产生重大影响的各个方面，特别关注对心理社会、教育和职业适应的影响。
这项工作是对一些论文的选择性但平衡的综述，这些论文强调了CAH男性和女性个体积极心理适应面临的潜在威胁。
本综述概述了贯穿各方面的风险（如与养育子女和医疗管理相关的挑战）以及CAH特定风险（包括生长和外貌变化、精神和神经认知问题、生殖功能和育儿兴趣降低，以及女孩和女性的男性化）对心理社会适应的影响。还提出了优化CAH患者心理结果的机会。
建议对患者和家庭的风险及恢复力因素进行常规心理社会筛查，以确定适用于个体患者和家庭的关注领域。这种筛查应包括对贯穿各方面因素和病症特定因素的评估。这反过来为提供以患者为中心的优质团队护理提供了一条前进的道路。
