Parenting and CAH - 21-hydroxylase Deficiency

NCT ID: NCT06900153

Last Updated: 2025-11-24

Basic Information

• Recruitment Status: NOT_YET_RECRUITING
• Total Enrollment: 200 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2025-12-31
• Study Completion Date: 2026-12-31

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.

Conditions

CAH - 21-Hydroxylase Deficiency

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: PROSPECTIVE

Interventions

phone questionnaire

the investigator calls the patient and asks her questions about her parental project and her pregnancies

Intervention Type: OTHER

Eligibility Criteria

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.

• Minimum Eligible Age: 18 Years
• Eligible Sex: FEMALE
• Accepts Healthy Volunteers: No

Sponsors

Assistance Publique - Hôpitaux de Paris

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Central Contacts

Anne BACHELOT

Role: CONTACT

anne.bachelot@aphp.fr

01 42 16 02 46

Other Identifiers

APHP250491

Identifier Type: -

Identifier Source: org_study_id