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

NCT05228652 | Unknown

• 2 other identifiers: B01259296826
• Study Type: observational
• Target: 61
• Locations: 1 country
• Sites: 1

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.

Conditions

Adrenal Hyperplasia, Congenital

Keywords

Congenital Adrenal Hyperplasia; feminising clitoroplasty; outcomes of genital surgery in infancy

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (7)

• Impact of the condition on individuals

  2 years

• The impact of the individual's condition on parents

  2 years

• The impact of the genital appearance on individuals

  2 years

• The impact of the genital appearance of the individuals on parents

  2 years

• Impact of the condition on the family.

  2 years

Study Arms (2)

Affected Individuals

Virilised 46XX CAH individuals aged 16 years or above

Other: Questionnaire

Parents of affected individuals

Parents of virilised 46XX CAH individuals aged 2 years and over.

Other: Questionnaire

Interventions

Questionnaire OTHER

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

Also known as: Q1: CAH Management Assessment Questionnaire - Parent, Q2: CAH Management Assessment Questionnaire - Affected Individuals, Q3: Further Questionnaire for Affected Individuals

Affected Individuals; Parents of affected individuals

Eligibility Criteria

• Age: 16 Years - 100 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• 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.

You may not qualify if:

• 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

Sponsors & Collaborators

• Manchester University NHS Foundation Trust: lead

Study Sites (1)

Manchester University NHS Foundation trust

Manchester, M13 OHY, United Kingdom

RECRUITING

Related 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.

  PMID: 30272250 BACKGROUND

• 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.

  PMID: 10458423 BACKGROUND

• 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.

  PMID: 26607969 BACKGROUND

• 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.

  PMID: 21439585 BACKGROUND

• 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.

  PMID: 15328775 BACKGROUND

• 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.

  PMID: 12503853 BACKGROUND

• 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.

  PMID: 23933397 BACKGROUND

• 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.

  PMID: 16145367 BACKGROUND

• 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.

  PMID: 11344932 BACKGROUND

• 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.

  PMID: 33230638 BACKGROUND

• 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.

  PMID: 12930931 BACKGROUND

MeSH Terms

Conditions

Adrenal Hyperplasia, Congenital

Interventions

Surveys and Questionnaires

Condition Hierarchy (Ancestors)

Adrenogenital Syndrome; Disorders of Sex Development; Urogenital Abnormalities; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Male Urogenital Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn; Steroid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Metabolic Diseases; Nutritional and Metabolic Diseases; Adrenal Gland Diseases; Endocrine System Diseases; Gonadal Disorders

Intervention Hierarchy (Ancestors)

Data Collection; Epidemiologic Methods; Investigative Techniques; Health Care Evaluation Mechanisms; Quality of Health Care; Health Care Quality, Access, and Evaluation; Public Health; Environment and Public Health

Study Officials

• Arianna Mariotto

  Royal Manchester Children's Hospital Manchester University NHS Foundation Trust

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Charlotte Richmond

CONTACT

0161 701 2586; cahmasu@mft.nhs.uk

Julie Jones

CONTACT

01617012587; cahmasu@mft.nhs.uk

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER GOV
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Specialty Registrar Paediatric Urology

Study Record Dates

• First Submitted: January 7, 2022
• First Posted: February 8, 2022
• Study Start: February 28, 2022
• Primary Completion: February 1, 2024
• Study Completion: February 1, 2024
• Last Updated: March 13, 2023

Record last verified: 2023-03

Data Sharing

• IPD Sharing: Will not share

Locations

GB (1)