Congenital Adrenal Hyperplasia Management Study
Research type
Research Study
Full title
Questionnaire study to assess long-term psychosocial and functional outcomes in individuals with virilising form of Congenital Adrenal Hyperplasia
IRAS ID
296826
Contact name
Anju Goyal
Contact email
Duration of Study in the UK
0 years, 11 months, 31 days
Research summary
Summary of Research
Congenital Adrenal Hyperplasia (CAH) is a rare condition where adrenal glands do not work properly. In girls, this can cause genitalia to appear different and enlarged. Some children undergo corrective surgery called genitoplasty, while others do not have surgery. The long-term outcomes of surgical/non-surgical approaches are not known. Our questionnaire study aims to understand the views of parents of girls with CAH and young people/adults (females) with CAH, their satisfaction with the outcomes, to assess if surgery is acceptable and if so, the best age to do this.
Summary of Results
Introduction
Congenital Adrenal Hyperplasia (CAH) is a condition which has life-long implications for the affected individual and their family. A specific subset of CAH affected female individuals can have different appearance of the genitalia. There is limited information available about patients and parents’ perspective of the condition and its impact on psychosocial well-being. Specifically, the impact of external genitalia appearance on child’s development and the functional outcomes is not clear. This information is important to support clinicians and families in the decision-making process.
There is an argument to stop any corrective surgery for this condition in childhood. Hence there is currently an extensive debate at national and international level about the need for surgery on the external genitalia of CAH patients and the right timing of such surgery. NHS England is discussing a proposal to stop funding for all childhood surgery in children with Differences in sex development (DSD), until they are old enough to make a decision.
It is imperative that any new proposal takes into account perspectives of affected individuals and their families. There is however limited information on this. It is important to understand the psychological and functional outcomes of current management, patient and parental feedback on their experience and their views on the NHS England proposal. Through specific questionnaires developed to collect above information from CAH affected individuals and their parents, we aimed to inform the current debate and proposal. This will also give us useful information to enable a better counselling for the future families and to arrive at a more informed treatment decision.We investigated individual patients’s and parental views on surgery for girls with virilising 46XX Congenital Adrenal Hyperplasia (CAH).
Materials and Methods
Parents of virilized CAH girls ≥ 2 years of age were invited to complete a bespoke questionnaire. And all virilised 46XX CAH females aged >16 years treated at our centre since 1976 were invited to complete a bespoke questionnaire.32 individual questionnaire were completed and 31 parental questionnaire were completed.
Parental questionnaire results:
Questionnaires were completed by 31 of 60 (52%) parents contacted. Patients’ median age at the study was 15 (5-26) years. Genitoplasty (median age 1.6 years) was chosen by 22(71%), 3 are waiting for surgery, 6 chose no surgery (mild clitoromegaly).
CAH negatively impacted parental wellbeing (20/31). Virilised genitalia affected parental confidence in allowing others to be involved in intimate care (17); in most cases extended family was not aware of virilisation.
Most parents felt supported and well-informed by medical team. Of those operated, 21 had no decisional regret, 1 had regret. 15/16 were satisfied about the surgical results.
When asked opinion about age for surgery, 20 wanted the option of early childhood surgery, 3 were against it, 8 had no opinion. Parents’ justifications for early surgery included avoidance of stigmatisation/discrimination, to reduce discomfort/anxiety, improve self-esteem/confidence; avoid painful procedure when they would remember it, “no memory – no trauma”, minimise “psychological and physical trauma”.
Individual questionnaire Results
32 (2 non-operated) of 99 eligible individuals, median age 21 years (17-27) completed the questionnaire. Genitoplasty median age was 1.5 yrs. At puberty, 6(20%) had redo procedures: clitoral reduction(1) and introital revision(5).
All identified as female. Sexuality: heterosexual(19), homosexual(4), bisexual(4), unclear(5) Poor self-esteem was reported by 8, poor psychological wellbeing by 5; owing to excess hair, changes in voice, body weight, virilised genitalia. Current genitalia appearance was concerning in 7 of 18 operated and it impacted negatively on forming sexual relationships mainly due to clitoral concerns. 17/32 had been in a relationship.
Seven reported on sexual experience: difficulty becoming lubricated (3), difficult reaching orgasm (4), discomfort on vaginal penetration (5). Of these, only 1 was dissatisfied with sexual life.Of those who had genitoplasty(30): Two were unhappy; 28 (93%) had no decisional regret.
On preferred age for surgery, 20 favoured early surgery, 3 did not, 7 were not sure.
Conclusions:
Diagnosis of CAH with its physical and psychosocial consequences has a huge impact on parents negatively affecting their wellbeing. Parents chose surgical correction for significant virilisation (100%). Most (94%) were happy with surgical outcomes. Parents chose surgical correction due to fear of adverse social, physical, psychological consequences and there was no decisional regret in most parents (95%) who chose early surgery and 65% prefer the option for early childhood surgery to be available.
Majority of patients were happy with parental choice of early childhood surgery and had no decisional regret. Surgical outcomes were good with only 20% requiring redo procedure, usually minor revision. Psychosocial outcomes are adversely affected by hormonal consequences of CAH. Sexual experience is adversely affected by CAH. 67% were in favour of early surgery and only 10% were against.REC name
North West - Greater Manchester East Research Ethics Committee
REC reference
21/NW/0292
Date of REC Opinion
25 Nov 2021
REC opinion
Further Information Favourable Opinion