Peer-reviewed article
Quality of life and gender identity in females with congenital adrenal hyperplasia after genital restoration surgery: A single-center experience.
Friederike Heidtmann, Saskia Umbreit, Felicitas Eckoldt ·
Summary
Written by AI, not yet AICS's view · claude-haiku-4-5-20251001This medical study examines quality of life and gender identity outcomes in females with congenital adrenal hyperplasia who underwent genital restoration surgery. The research used validated questionnaires and interviews with 25 patients aged 2-28 years to assess health-related quality of life, gender dysphoria, and family satisfaction. Participants reported quality of life comparable to healthy populations and no gender dysphoria, with families preferring early surgical intervention.
Key points
- 45% response rate with 25 of 56 eligible patients providing data on health-related quality of life
- Median age at first surgery was 6 months (range 3-137 months)
- Quality of life scores comparable to healthy reference populations across most age groups
- No cases of gender dysphoria detected in five patients aged 14 years or older (all UGDS scores <40)
- All 14 families interviewed expressed preference for early surgical timing with no regrets
Limitations
The study has a small sample size (25 participants), single-center design, and selection bias potential. Most participants were young at the time of assessment, limiting ability to assess long-term sexual function and reproductive outcomes, and there was no non-operated comparison group.
Abstract
BACKGROUND: Legislation restricting surgical interventions in children with differences of sex development (DSD) has intensified debate about female genital restoration surgery (FGRS) in patients with congenital adrenal hyperplasia (CAH). Long-term patient-reported outcomes are needed regarding the optimal timing of surgery. OBJECTIVE: We aimed to assess health-related quality of life (HRQoL), gender identity, and family satisfaction regarding surgical timing and outcome in females with CAH following genital restoration surgery. STUDY DESIGN: Cross-sectional survey of CAH patients who underwent surgery between January 2007 to December 2016 at our institution. Validated instruments (KINDL questionnaire for HRQoL, Utrecht Gender Dysphoria Scale, UGDS) and structured telephone interviews were employed. RESULTS: Data on HRQoL was available for 25 patients (self- and/or parent-reported) out of 56 eligible patients (45% response rate). Median age at first surgery was 6 months (range: 3-137 months). Patients' age at time of participation ranged from 2 to 28 years. All had 21-hydroxylase deficiency (92% salt-wasting form) with Prader grades ranging from II-V. Wound dehiscence requiring secondary suturing occurred in 15% of patients with primary surgery at our center, while only one (4%) patient developed vaginal stenosis after early primary vaginoplasty. Two additional patients (8%) with prior outside surgery required vaginal revision after FGRS at age 12. HRQoL scores were comparable to healthy reference populations across most age groups. Children aged 3-6 and adolescents and young adults showed no significant difference from reference values, while children aged 7-13 showed a slight elevation. None of five patients ≥14 years demonstrated gender dysphoria (all UGDS scores <40, threshold ≥40). 14 patients and families were also interviewed by telephone. All preferred early surgical timing. No family expressed regret about the decision or preferred delayed surgery. DISCUSSION: This study provides validated intermediate-term patient- and parent-reported outcomes after FGRS in CAH. Key limitations include the small sample size, single-center design, and young age of most patients. Selection bias may exist, though participating families included those who underwent revision surgery. The absence of a non-operated comparison group reflects current clinical reality, as nearly all CAH patients with urogenital sinus underwent surgical correction. CONCLUSIONS: Females with CAH reported normal HRQoL and a comfortable female gender identity after early FGRS. The patients and their families expressed a preference for early surgery. However, there is need for longer-term follow-up to assess sexual function and reproductive outcomes as well comparison of outcomes with a non-operated group.