Clinical trial NCT06900153: Parenting and CAH - 21-hydroxylase Deficiency
Official title: Description of Parental Projects, Pregnancies and Pregnancy Outcomes in Patients With a Classic Form of 21-hydroxylase Deficiency
Study type: OBSERVATIONAL
Overall status: NOT_YET_RECRUITING
Conditions: CAH - 21-Hydroxylase Deficiency
Keywords: congenital adrenal hyperplasia due to 21
hydroxylase deficiency
fertility
pregnancy outcomes
pregnancy related
hormonal substitution
parental project
Lead sponsor: Assistance Publique - Hôpitaux de Paris
Sponsor class: OTHER
First posted: 2025-03-28
Enrollment: 200
Sex: FEMALE
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: 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

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.


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.

Primary outcomes:
measure: to describe how pregnancies are achieved: spontaneous or induced, if induced by which ART technique.
timeFrame: Day 1
Secondary outcomes:
measure: Describe the existence of a parental project among the women in the cohort
timeFrame: Day 1
measure: Describe obstetric complications
timeFrame: Day 1
measure: Describe the hormonal substitution adjustments.
timeFrame: Day 1
Other outcomes:
Locations:
Study officials:
References: