Parenting and CAH - 21-hydroxylase Deficiency
PARENT-HCS
Description of Parental Projects, Pregnancies and Pregnancy Outcomes in Patients With a Classic Form of 21-hydroxylase Deficiency
1 other identifier
observational
200
1 country
4
Brief Summary
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.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P75+ for all trials
Started Mar 2026
Shorter than P25 for all trials
4 active sites
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
First Submitted
Initial submission to the registry
March 21, 2025
CompletedFirst Posted
Study publicly available on registry
March 28, 2025
CompletedStudy Start
First participant enrolled
March 16, 2026
CompletedPrimary Completion
Last participant's last visit for primary outcome
March 16, 2027
ExpectedStudy Completion
Last participant's last visit for all outcomes
March 16, 2027
March 27, 2026
March 1, 2026
1 year
March 21, 2025
March 23, 2026
Conditions
Keywords
Outcome Measures
Primary Outcomes (1)
to describe how pregnancies are achieved: spontaneous or induced, if induced by which ART technique.
Information on how the pregnancy was achieved will be collected from the medical file and will be supplemented on the day of inclusion by a telephone questionnaire to the patient
Day 1
Secondary Outcomes (3)
Describe the existence of a parental project among the women in the cohort
Day 1
Describe obstetric complications
Day 1
Describe the hormonal substitution adjustments.
Day 1
Interventions
the investigator calls the patient and asks her questions about her parental project and her pregnancies
Eligibility Criteria
Women with HCS due to 21-hydroxylase deficiency, confirmed genetically, and monitored in one of the participating Endocrinology departments affiliated with the CRMR of the FIRENDO network
You may qualify if:
- 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
You may not qualify if:
- 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.
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (4)
Hospices Civiles de Lyon - Hôpital Femme Mère Enfant, Service Endocrinologie
Bron, France
AP-HP Hôpital Bicêtre, Service Endocrinologie
Le Kremlin-Bicêtre, France
Service d'endocrinologie, Hôpital Pitié Salpêtrière
Paris, France
Service d'endocrinologie, Hôpital Saint Antoine
Paris, France
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Central Study Contacts
Study Design
- Study Type
- observational
- Observational Model
- COHORT
- Time Perspective
- PROSPECTIVE
- Sponsor Type
- OTHER
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
March 21, 2025
First Posted
March 28, 2025
Study Start
March 16, 2026
Primary Completion (Estimated)
March 16, 2027
Study Completion (Estimated)
March 16, 2027
Last Updated
March 27, 2026
Record last verified: 2026-03
Data Sharing
- IPD Sharing
- Will share
- Shared Documents
- STUDY PROTOCOL, ICF
- Time Frame
- Beginning 3 months and ending 3 years following article publication. Requests out of these time frame can also be submitted to the sponsor
- Access Criteria
- Researchers who provide a methodologically sound proposal.
The procedures carried out with the French data privacy authority (CNIL, Commission nationale de l'informatique et des libertés) do not provide for the transmission of the database, nor do the information and consent documents signed by the patients. Consultation by the editorial board or interested researchers of individual participant data that underlie the results reported in the article after deidentification may nevertheless be considered, subject to prior determination of the terms and conditions of such consultation and in respect for compliance with the applicable regulations.