Parenting and CAH - 21-hydroxylase Deficiency
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: phone questionnaire.
- Who it may be relevant to
- Registry conditions: CAH - 21-Hydroxylase Deficiency. Basic parameters: from 18 years · Female.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- France
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Official title
Description of Parental Projects, Pregnancies and Pregnancy Outcomes in Patients With a Classic Form of 21-hydroxylase Deficiency
Overview
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.
Interventions
- Other phone questionnaire
the investigator calls the patient and asks her questions about her parental project and her pregnancies
Primary outcome measures
- to describe how pregnancies are achieved: spontaneous or induced, if induced by which ART technique. [Time frame: Day 1]
Secondary outcome measures (3)
- Describe the existence of a parental project among the women in the cohort [Time frame: Day 1]
- Describe obstetric complications [Time frame: Day 1]
- Describe the hormonal substitution adjustments. [Time frame: Day 1]
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.
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Cohort
Study locations
France · 4 centers
- Hospices Civiles de Lyon - Hôpital Femme Mère Enfant, Service Endocrinologie — Bron
- AP-HP Hôpital Bicêtre, Service Endocrinologie — Le Kremlin-Bicêtre
- Service d'endocrinologie, Hôpital Pitié Salpêtrière — Paris
- Service d'endocrinologie, Hôpital Saint Antoine — Paris
Identifiers
NCT: NCT06900153 · APHP250491