ClinicalTrials.gov record NCT06900153

Parenting and CAH - 21-hydroxylase Deficiency

Record copied from ClinicalTrials.gov: Oct 10, 2026AI summaries generated: Sep 17, 2026

Description of Parental Projects, Pregnancies and Pregnancy Outcomes in Patients With a Classic Form of 21-hydroxylase Deficiency

StatusRecruitingThe study is currently enrolling participants. Only the study team can say whether a particular person can join.
Study typeObservationalA study in which researchers do not assign participants to a treatment or other intervention. They observe or measure what happens, which may include study visits, tests, questionnaires or a review of medical records.
Age18 years old and older
SexFemale
LocationFrance
AI summaryWhat this study is about, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

This observational cohort study collects medical-record data and a phone questionnaire about parenting plans and pregnancies in women with genetically confirmed classic 21‑hydroxylase deficiency (age 18+). It records how pregnancies were achieved, pregnancy complications and outcomes, and any changes to hydrocortisone or fludrocortisone prescriptions. Participation involves review of medical records and answering a telephone questionnaire at inclusion. The study does not assign any treatments.

What it is studying. The study aims to describe parental plans, how pregnancies are achieved (spontaneous or assisted), obstetric complications and outcomes, and adjustments to hormone replacement in women with classic 21‑hydroxylase deficiency.

What the researchers hope to learn. To provide descriptive data on fertility routes, pregnancy complications and outcomes, and hormone-replacement adjustments in women with classic 21‑hydroxylase deficiency, to better characterize pregnancy-related experiences in this group.

What this study is about

The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.

Congenital adrenal hyperplasia (CAH) is a genetic disease with autosomal recessive transmission, which is defined by a deficiency of one of the steroidogenesis enzymes. 21-hydroxylase deficiency (21OHD), related to mutations of the CYP21A2 gene, is involved in 90 to 95% of CAH cases. Depending on the severity of the mutations of this gene, there are severe forms known as "classic" (FC), with neonatal onset, and moderate forms known as "non-classic" (FNC), with onset later in childhood or after puberty. The classic form includes the salt-wasting form and the pure virilizing form, depending on the degree of aldosterone deficiency. The sexuality and fertility of women with classic 21OHD deficiency are impaired by several factors such as disruption of the gonadotropic axis due to overproduction of androgens and progesterone by the adrenal glands, and mechanical and psychological factors related to genital surgery. The fertility of these women improves over time, largely due to earlier treatment of CAH, improved therapeutic compliance and surgical advances in genital reconstruction leading to an increase in the percentage of patients who are sexually active. However, there is little data available, and even less on the course of pregnancy, its complications and its outcomes.

Interventions being studied

Being studied in this trial does not mean the treatment or procedure is approved or available for this condition.

Other
  • phone questionnaire

Eligibility

The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.

Inclusion criteria

  • Patients aged 18 or over
  • Patients with HCS due to 21-hydroxylase deficiency, confirmed genetically
  • Patients who have been informed and do not object to participating in the research

Exclusion criteria

  • Patients who do not speak French
  • Patients who are not affiliated to a social security scheme or who are not entitled to it
  • Patients under legal protection, or under guardianship or trusteeship.

Study description and what participation involves

The registry record has no detailed description beyond the summary above.

AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

Take part in a telephone questionnaire in which an investigator asks about your parental project, how any pregnancies were achieved, pregnancy course and outcomes, and hormone-replacement adjustments. Study staff will review your medical records (pregnancy and childbirth follow-up reports, prescriptions) to collect the same information. No invasive study procedures are listed—participation appears limited to the phone interview and medical-record review. The interview will be conducted in French.

How the study is structured. A prospective observational cohort: researchers review medical records and call participants to complete a questionnaire. No experimental treatment is given; data are collected at inclusion (medical record review plus one phone interview).

Questions you could ask

These questions are suggestions for a conversation with the study team or your own clinician, not advice.

  • The registry lists this study under CAH - 21-Hydroxylase Deficiency. Does it apply to my diagnosis?
  • This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
  • The listed sites are in France. Is any of them reachable for me, and does the study help with travel?
  • Which of the eligibility criteria would need to be checked with tests before I could join?

More on congenital adrenal hyperplasia

Clinical trials43 trials listed for congenital adrenal hyperplasiaEvery trial the registry lists for congenital adrenal hyperplasia, with recruitment status, phase and sites, updated from ClinicalTrials.gov.See all trials →Research updatesWhat changed in congenital adrenal hyperplasia researchLatest monthly update: September 2026. Includes: Bedtime hydrocortisone. New research summarized each month in plain language, with links to every source paper.Read the latest update →

Important dates

Study start
Mar 16, 2026
Primary completion
Mar 16, 2027 (estimated)
Study completion
Mar 16, 2027 (estimated)
Target enrollment
200 participants (estimated)
Last updated on registry
Aug 31, 2026
Data verified
Oct 10, 2026

Sponsor and research team

The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.

Lead sponsor
Assistance Publique - Hôpitaux de Paris

Central study contact

If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.

Participating sites (7)

Terms used on this page · explanations by MedicalUpdates.ai

Inclusion Criteria
The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
Exclusion Criteria
The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.

The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.

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