CAH - 21-Hydroxylase Deficiency
Conditions
Keywords
congenital adrenal hyperplasia due to 21, hydroxylase deficiency, fertility, pregnancy outcomes, pregnancy related, hormonal substitution, parental project
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.
Interventions
OTHERphone questionnaire
the investigator calls the patient and asks her questions about her parental project and her pregnancies
Sponsors
Assistance Publique - Hôpitaux de Paris
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
FEMALE
Age
18 Years to No maximum
Healthy volunteers
No
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| 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, if the data in the file do not provide answers to the study's questions. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| 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 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. |
| Describe the hormonal substitution adjustments. | Day 1 | The description of hormone replacement adjustments will be based on the prescription of Hydrocortisone and Fludrocortisone. |
Countries
France
Contacts
CONTACTAnne BACHELOT
Outcome results
None listed