Parenting and CAH - 21-hydroxylase Deficiency (PARENT-HCS)

Assistance Publique - Hôpitaux de Paris

Status: Not yet enrolling

Conditions: CAH - 21-Hydroxylase Deficiency

Treatments: Other: phone questionnaire

Study type: Observational

Funder types: Other

Identifiers

NCT06900153

APHP250491

Details and patient eligibility

About

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.

Enrollment: 200 estimated patients

Sex: Female

Ages: 18+ years old

Volunteers: No Healthy Volunteers

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.