Beyond endocrine features in non-classical congenital adrenal hyperplasia: a narrative review of psychoneuro-social perspectives in pediatric and adolescent patients.

UNLABELLED: Non-classical congenital adrenal hyperplasia (NCCAH) is a late-onset, milder form of 21-hydroxylase deficiency marked by adrenal androgen excess. While endocrine aspects are well described, psychoneuro-social outcomes in pediatric and adolescent patients remain less clearly defined. A literature search of MEDLINE (PubMed) was conducted in July 2025 using "Non-Classical Congenital Adrenal Hyperplasia" with terms related to mental health, cognition, social adaptation, gender identity, sexual orientation, and heterozygous carriers. In females, androgen excess is frequently associated with anxiety, depression, body image concerns, and increased prevalence of gender nonconformity or non-heterosexual orientation, although most maintain a female gender identity. Males generally present fewer gender identity concerns, with inconsistent evidence for higher externalizing behaviors. Neurocognitive outcomes are variable, with occasional subtle deficits in working memory, executive function, or attention, alongside possible strengths in visuospatial tasks. Health-related quality of life in adequately treated pediatric NCCAH is generally comparable to that of healthy peers, though age-specific psychosocial vulnerabilities may occur. Social difficulties, particularly among females, may involve stigmatization and reduced peer acceptance. Heterozygous CYP21A2 carriers are usually asymptomatic and do not exhibit significant psychoneuro-social burden; interventions are not routinely indicated unless hyperandrogenic symptoms are present.

CONCLUSIONS: Psychoneuro-social effects of NCCAH are heterogeneous and shaped by sex, age, and clinical presentation. An individualized, multidisciplinary approach integrating endocrinology, psychological support, and social resources is recommended. Longitudinal studies are needed to clarify long-term trajectories and optimize targeted interventions.

WHAT IS KNOWN: • NCCAH is a common form of CAH with mild androgen excess. • Its endocrine features are well described, but psychosocial aspects are often overlooked.

WHAT IS NEW: • This review highlights cognitive, emotional, and social challenges in pediatric NCCAH. • Sex-specific patterns and the role of early diagnosis in improving outcomes are emphasized.