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Review
. 2025 Jan 21;110(Supplement_1):S46-S55.
doi: 10.1210/clinem/dgae668.

Mental Health Issues Associated With Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

David E Sandberg  1   2 , Melissa Gardner  1 , Zoe K Lapham  1
Affiliations
Review

Mental Health Issues Associated With Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

David E Sandberg et al. J Clin Endocrinol Metab. .

Abstract

Context: 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.

Evidence acquisition: 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.

Evidence synthesis: 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.

Conclusion: 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.

Keywords: 21-hydroxylase deficiency; CAH; healthcare; mental health; psychosexual; psychosocial.

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Figure 1.
Suggestions for optimizing psychological outcomes.
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