Questionnaire Study to Assess the Outcomes of the Management of Congenital Adrenal Hyperplasia Individuals

Study Overview
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Brief Summary
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This is a questionnaire study involving women and young girls affected by Congenital Adrenal Hyperplasia (CAH) and their parents. The aim is to obtain information regarding the outcomes of conservative or surgical management of CAH at the Royal Manchester Children's Hospital (RMCH) in the last 50 years, with specific reference to genital appearance and its impact on patient's social/physical/emotional/sexual outcomes. The study wants also investigate on the individuals and parental perspectives on the proposal to take away the option of early childhood surgery for girls with this condition.

Detailed Description
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Congenital adrenal hyperplasia (CAH) is a heterogeneous group of autosomal-recessive disorders that results in virilisation of the female child due to intrauterine exposure to androgens at a critical phase of differentiation. Female infants may present with a variable degree of genital virilisation, and depending on it and on parental wishes, genital surgery (also called genitoplasty) is offered in infancy/early childhood. Some patients do not undergo surgery in infancy or early childhood, some of these patients may present at a later stage for consideration of genitoplasty, some may request further genitoplasty. In current practice, most clitoral procedures involve dorsal neurovascular bundle preservation. However, damage to the clitoral innervation through incision could lead to disruption of neurological pathways, compromising clitoral sensitivity, erotic sensation and pleasure. There is limited and controversial data measuring qualitative outcomes of sexual function and genital sensitivity following feminizing genitoplasty in childhood and it is very important to assess modern surgical and functional outcomes. Another controversial topic is the timing of surgery, early infancy versus delayed to adolescence/adulthood, when the patient is able to give her opinion. Currently there is extensive debate at national and international level about the best timing of such surgery and there are proposals to stop funding for all childhood surgery in the above group of children until they are old enough to make a decision. It is therefore imperative that this decision is informed by evidence, highlighting the importance and necessity of a study that aims to evaluate psychosocial and functional outcomes. An objective evaluation of outcome of those patients who have been managed under our care - either conservatively or surgically (early or delayed) - would give us data which will be helpful in assessing whether genitoplasty surgery is felt to be necessary by individuals/families and if so, when is the right time to perform it. It will also usefull to inform NHS England policy and also our consultation with children and their families thus aiding in the decision-making process. The main objective of this study is to obtain information on psychosocial and functional outcomes and to assess parental and patients' satisfaction with the current approach where parents are given the option of either conservative or surgical management. CAH affected individuals with virilisation of external genitalia raised as females and treated under the care of the team/co-investigators over the last 50 years at RMCH will be identified from the departmental prospective CAH database. They will ask to fill study-specific questionnaires that have been developed by the study committee to explore the study objectives. The questionnaires are directed to CAH affected individuals aged 16 years and over and the parents of CAH affected girls aged 2 years and over. The research will run over a period of 12 months. The completed questionnaires will be reviewed by a research team member to ensure that the questionnaire is complete and that participants have fully understood the questions. The analysis of the questionnaires will be done by the research team.

Official Title
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Questionnaire Study to Assess Long-term Psychosocial and Functional Outcomes in Individuals With Virilising Form of Congenital Adrenal Hyperplasia

Conditions
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Adrenal Hyperplasia, Congenital

Intervention / Treatment
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* Other: Questionnaire


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Parents of CAH affected 46XX individuals aged 2 years and over who were born with virilised genitalia CAH affected 46XX individuals who were born with virilised genitalia, 16 years of age and over. Exclusion Criteria: Female DSD children with virilisation which is not due to CAH Non-virilised CAH patients CAH patients raised as male Parents of individuals excluded as above Participants who cannot understand questionnaires in English

Ages Eligible for Study
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Minimum Age: 16 Years
Maximum Age: 100 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Affected Individuals<br>Virilised 46XX CAH individuals aged 16 years or above | Other: Questionnaire<br>* Three different questionnaires have been developed. They consist of multiple-choice questions and some open-ended questions.<br>* Other names: Q3: Further Questionnaire for Affected Individuals;|
| Parents of affected individuals<br>Parents of virilised 46XX CAH individuals aged 2 years and over. | Other: Questionnaire<br>* Three different questionnaires have been developed. They consist of multiple-choice questions and some open-ended questions.<br>* Other names: Q3: Further Questionnaire for Affected Individuals;|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| To assess Individual's and parental view regarding their management using a specific questionnaire | CAH affected individual's and parental satisfaction with the choice and the outcome of their management over the years. | 2 years | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Impact of the condition on individuals | To assess the impact of CAH upon the affected individual's life using a specific questionnaire | 2 years | 
| The impact of the individual's condition on parents | To assess the impact of CAH upon the parents of affected individual using a specific questionnaire | 2 years | 
| The impact of the genital appearance on individuals | To assess the impact of genital appearance upon the CAH affected individual's development using a specific questionnaire | 2 years | 
| The impact of the genital appearance of the individuals on parents | To assess the impact of genital appearance of the CAH affected individual on parents using a specific questionnaire | 2 years | 
| Impact of the condition on the family. | Parental views on the effect of CAH condition upon the family using a specific questionnaire | 2 years | 
| Opinion on early childhood surgery. | Parental perspective towards the NHS England proposal to take away the option of early childhood surgery using a specific questionnaire | 2 years | 
| Opinion on early childhood surgery. | Individual perspective towards the NHS England proposal to take away the option of early childhood surgery using a specific questionnaire | 2 years | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Congenital Adrenal Hyperplasia, feminising clitoroplasty, outcomes of genital surgery in infancy