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

Adrenal Hyperplasia, Congenital Clinical Trial

— CAH-MaS  

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT05228652
• Other study ID #: B01259
• Secondary ID: 296826
• Status: Recruiting
• Start date: February 28, 2022
• Est. completion date: February 1, 2024

Study information

• Verified date: March 2023
• Source: Manchester University NHS Foundation Trust
• Contact: Charlotte Richmond
• Phone: 0161 701 2586
• Email: cahmasu[@]mft.nhs.uk
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

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.

Description:

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 61
• Est. completion date: February 1, 2024
• Est. primary completion date: February 1, 2024
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 16 Years to 100 Years

Eligibility

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

Related Conditions & MeSH terms

• Adrenal Hyperplasia, Congenital
• Adrenocortical Hyperfunction
• Adrenogenital Syndrome
• Hyperplasia

Intervention

Other:
• Questionnaire
Three different questionnaires have been developed. They consist of multiple-choice questions and some open-ended questions.

Locations

Country	Name	City	State
United Kingdom	Manchester University NHS Foundation trust	Manchester

Sponsors (1)

Lead Sponsor	Collaborator
Manchester University NHS Foundation Trust

Country where clinical trial is conducted

United Kingdom, 

References & Publications (11)

Almasri J, Zaiem F, Rodriguez-Gutierrez R, Tamhane SU, Iqbal AM, Prokop LJ, Speiser PW, Baskin LS, Bancos I, Murad MH. Genital Reconstructive Surgery in Females With Congenital Adrenal Hyperplasia: A Systematic Review and Meta-Analysis. J Clin Endocrinol Metab. 2018 Nov 1;103(11):4089-4096. doi: 10.1210/jc.2018-01863. — View Citation

Baskin LS, Erol A, Li YW, Liu WH, Kurzrock E, Cunha GR. Anatomical studies of the human clitoris. J Urol. 1999 Sep;162(3 Pt 2):1015-20. doi: 10.1016/S0022-5347(01)68052-2. — View Citation

Binet A, Lardy H, Geslin D, Francois-Fiquet C, Poli-Merol ML. Should we question early feminizing genitoplasty for patients with congenital adrenal hyperplasia and XX karyotype? J Pediatr Surg. 2016 Mar;51(3):465-8. doi: 10.1016/j.jpedsurg.2015.10.004. Epub 2015 Oct 22. — View Citation

Fagerholm R, Santtila P, Miettinen PJ, Mattila A, Rintala R, Taskinen S. Sexual function and attitudes toward surgery after feminizing genitoplasty. J Urol. 2011 May;185(5):1900-4. doi: 10.1016/j.juro.2010.12.099. — View Citation

Frost-Arner L, Aberg M, Jacobsson S. Clitoral sensitivity after surgical correction in women with adrenogenital syndrome: a long term follow-up. Scand J Plast Reconstr Surg Hand Surg. 2003;37(6):356-9. doi: 10.1080/02844310310007863. — View Citation

Lee PA, Witchel SF. Genital surgery among females with congenital adrenal hyperplasia: changes over the past five decades. J Pediatr Endocrinol Metab. 2002 Nov-Dec;15(9):1473-7. doi: 10.1515/jpem.2002.15.9.1473. — View Citation

Lesma A, Bocciardi A, Corti S, Chiumello G, Rigatti P, Montorsi F. Sexual function in adult life following Passerini-Glazel feminizing genitoplasty in patients with congenital adrenal hyperplasia. J Urol. 2014 Jan;191(1):206-11. doi: 10.1016/j.juro.2013.07.097. Epub 2013 Aug 6. — View Citation

O'Connell HE, Sanjeevan KV, Hutson JM. Anatomy of the clitoris. J Urol. 2005 Oct;174(4 Pt 1):1189-95. doi: 10.1097/01.ju.0000173639.38898.cd. — View Citation

Schnitzer JJ, Donahoe PK. Surgical treatment of congenital adrenal hyperplasia. Endocrinol Metab Clin North Am. 2001 Mar;30(1):137-54. doi: 10.1016/s0889-8529(08)70023-9. — View Citation

Shalaby M, Chandran H, Elford S, Kirk J, McCarthy L. Recommendations of patients and families of girls with 46XX congenital adrenal hyperplasia in the United Kingdom regarding the timing of surgery. Pediatr Surg Int. 2021 Jan;37(1):137-143. doi: 10.1007/s00383-020-04780-3. Epub 2020 Nov 23. — View Citation

Speiser PW, White PC. Congenital adrenal hyperplasia. N Engl J Med. 2003 Aug 21;349(8):776-88. doi: 10.1056/NEJMra021561. No abstract available. — View Citation

* Note: There are 11 references in all — Click here to view all references

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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	Impact of the condition on individuals	To assess the impact of CAH upon the affected individual's life using a specific questionnaire	2 years
Secondary	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
Secondary	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
Secondary	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
Secondary	Impact of the condition on the family.	Parental views on the effect of CAH condition upon the family using a specific questionnaire	2 years
Secondary	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
Secondary	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