Clinical trial NCT05228652: Questionnaire Study to Assess the Outcomes of the Management of Congenital Adrenal Hyperplasia Individuals
Official title: Questionnaire Study to Assess Long-term Psychosocial and Functional Outcomes in Individuals With Virilising Form of Congenital Adrenal Hyperplasia
Study type: OBSERVATIONAL
Overall status: UNKNOWN
Conditions: Adrenal Hyperplasia, Congenital
Keywords: Congenital Adrenal Hyperplasia
feminising clitoroplasty
outcomes of genital surgery in infancy
Lead sponsor: Manchester University NHS Foundation Trust
Sponsor class: OTHER_GOV
First posted: 2022-02-08
Enrollment: 61
Sex: ALL
Minimum age (years): 16
Maximum age (years): 100
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: COHORT
Time perspective: CROSS_SECTIONAL
Sampling method: NON_PROBABILITY_SAMPLE
Study population: CAH affected individuals aged 16 years and over and parents/guardians of CAH affected girls aged 2 years are eligible for the study.

All individuals will be considered for inclusion in this study regardless of age, disability, gender reassignment, marriage and civil partnership, pregnancy and maternity, race, religion and belief, sex, and sexual orientation except where the study inclusion and exclusion criteria EXPLICITLY state otherwise.

Brief 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.

Detailed 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.

Eligibility criteria: 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

Primary outcomes:
measure: To assess Individual's and parental view regarding their management using a specific questionnaire
timeFrame: 2 years
Secondary outcomes:
measure: Impact of the condition on individuals
timeFrame: 2 years
measure: The impact of the individual's condition on parents
timeFrame: 2 years
measure: The impact of the genital appearance on individuals
timeFrame: 2 years
measure: The impact of the genital appearance of the individuals on parents
timeFrame: 2 years
measure: Impact of the condition on the family.
timeFrame: 2 years
measure: Opinion on early childhood surgery.
timeFrame: 2 years
measure: Opinion on early childhood surgery.
timeFrame: 2 years
Other outcomes:
Locations:
city: Manchester
country: United Kingdom
facility: Manchester University NHS Foundation trust
Study officials:
affiliation: Royal Manchester Children's Hospital Manchester University NHS Foundation Trust
name: Arianna Mariotto
role: PRINCIPAL_INVESTIGATOR
References:
citation: 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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.