21-Hydroxylase Deficiency, Classic Congenital Adrenal Hyperplasia
Conditions
Keywords
congenital adrenal hyperplasia, regret, surgery, treatment, quality of life
Brief summary
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.
Interventions
OTHERquestionnaire
Standardized questionnaires assessing regret related to pediatric management, quality of life, sexual function, and psychological outcomes.
Sponsors
University Hospital, Lille
Study design
Observational model
OTHER
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
FEMALE
Age
18 Years to 65 Years
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Regret related to pediatric management | At study inclusion (baseline) | Regret related to pediatric management assessed by the Decision Regret Scale (DRS) |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Quality of life | at study inclusion (baseline) | Quality of life assessed by the WHOQOL-BREF questionnaire |
| Sexual function | at study inclusion (baseline) | Sexual function assessed by the Arizona Sexual Experience Scale (ASEX) |
| Symptoms of anxiety and depression | at study inclusion | Symptoms of anxiety and depression assessed by the Hospital Anxiety and Depression Scale (HADS) |
| Adaptation of hormonal treatment from adolescence to adulthood | at study inclusion (baseline) | Adaptation of hormonal treatments from adolescence to adulthood, assessed from medical history |
Countries
France
Contacts
CONTACTSophie CATTEAU JONARD, PhD
Outcome results
None listed