Parenting and CAH - 21-hydroxylase Deficiency

Not yet recruiting

• Conditions: CAH - 21-Hydroxylase Deficiency

• Registration Number: NCT06900153
• Lead Sponsor: Assistance Publique - Hôpitaux de Paris

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.

Detailed Description

Not available

Study Timeline

• Status Verified: 2025-03
• Study First Submitted: 2025-03-21
• Study First Submitted QC: 2025-03-21
• Study First Posted: 2025-03-28
• Last Update Submitted: 2025-04-03
• Last Update Posted: 2025-04-06
• Study Start: 2025-06
• Primary Completion: 2026-06
• Study Completion: 2026-06

Recruitment & Eligibility

• Status: NOT_YET_RECRUITING
• Sex: Female
• Target Recruitment: 200

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 & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
to describe how pregnancies are achieved: spontaneous or induced, if induced by which ART technique.	Day 1	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

Secondary Outcome Measures

Name	Time	Method
Describe the existence of a parental project among the women in the cohort	Day 1	The description of the parental project will be based on the patients' declaration of the presence or absence of a desire to have children, and if not, what the reasons were
Describe the hormonal substitution adjustments.	Day 1	The description of hormone replacement adjustments will be based on the prescription of Hydrocortisone and Fludrocortisone.
Describe obstetric complications	Day 1	The description of obstetrical complications (GEU, miscarriages, in utero fetal death, IUGR, gestational diabetes, hypertension, pre-eclampsia, HELLP syndrome, cholestasis gravidarum, term of delivery, spontaneous or induced labor, birth weight, breastfeeding if desired) will be based on data from pregnancy and childbirth follow-up reports.