Pediatric Congenital Adrenal Hyperplasia Management: Regret and Long-term Outcomes

Evaluation of Potential Regret Related to Pediatric Surgical and Medical Management of Congenital Adrenal Hyperplasia, and Analysis of Long-term Outcomes.

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a chronic endocrine disorder, often diagnosed in the neonatal period. Severe forms may lead to genital virilization in afected girls and adrenal crises. Management includes lifelong hormone replacement therapy and, historically, early genital surgery, although recent guidelines recommend delaying non-urgent procedures to preserve patient autonomy.This study hypothesizes that pediatric management, particularly early surgical interventions, may influence long-term satisfaction and the expression of regret in adulthood. We will conduct an observational cross-sectional study including adult patients diagnosed with CAH during childhood. Data will be collected using standardized questionnaires assessing medical regret, quality of life, sexual function, and psychological outcomes, together with clinical characteristics and past medical and surgical history.The primary outcome is the prevalence of regret related to pediatric care. Secondary outcomes include quality of life, sexual satisfaction, psychological status, and adaptation of hormonal therapy from adolescence to adulthood. Patient-reported outcomes (regret, quality of life, sexual function, and psychological outcomes) will be assessed in female participants only, male participants will be included for the evaluation of hormonal treatment adaptation.

Inclusion Criteria:

• Adult patients aged 18 years or older
• Diagnosis of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
• Followed at Lille University Hospital
• Able to understand the study information and complete the questionnaires in French
• Having provided written informed consent

Exclusion Criteria:

• Patients younger than 18 years
• Non-classic forms of congenital adrenal hyperplasia
• Inability to understand the study information or to complete the questionnaires
• Refusal to participate or lack of informed consent
• Severe cognitive impairment or psychiatric condition preventing reliable questionnaire completion