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Parenting and CAH - 21-hydroxylase Deficiency

NCT06900153 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 200

Last updated 2026-03-27

No results posted yet for this study

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

Interventions

OTHER

phone questionnaire

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

Sponsors & Collaborators

  • Assistance Publique - Hôpitaux de Paris

    lead OTHER

Eligibility

Min Age
18 Years
Sex
FEMALE
Healthy Volunteers
No

Timeline & Regulatory

Start
2026-03-16
Primary Completion
2027-03-16
Completion
2027-03-16

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT06900153 on ClinicalTrials.gov