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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.
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| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| phone questionnaire | Other | the investigator calls the patient and asks her questions about her parental project and her pregnancies |
| Measure | Description | Time Frame |
|---|---|---|
| to describe how pregnancies are achieved: spontaneous or induced, if induced by which ART technique. | 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 | Day 1 |
| Measure | Description | Time Frame |
|---|---|---|
| Describe the existence of a parental project among the women in the cohort | 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 | Day 1 |
| Describe obstetric complications |
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Inclusion Criteria:
Exclusion Criteria:
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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
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Anne BACHELOT | Contact | 01 42 16 02 46 | anne.bachelot@aphp.fr |
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Hospices Civiles de Lyon - Hôpital Femme Mère Enfant, Service Endocrinologie | Recruiting | Bron | France |
The procedures carried out with the French data privacy authority (CNIL, Commission nationale de l'informatique et des libertés) do not provide for the transmission of the database, nor do the information and consent documents signed by the patients.
Consultation by the editorial board or interested researchers of individual participant data that underlie the results reported in the article after deidentification may nevertheless be considered, subject to prior determination of the terms and conditions of such consultation and in respect for compliance with the applicable regulations.
Beginning 3 months and ending 3 years following article publication. Requests out of these time frame can also be submitted to the sponsor
Researchers who provide a methodologically sound proposal.
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| ID | Term |
|---|---|
| D000312 | Adrenal Hyperplasia, Congenital |
| ID | Term |
|---|---|
| D047808 | Adrenogenital Syndrome |
| D012734 | Disorders of Sex Development |
| D014564 | Urogenital Abnormalities |
| D052776 | Female Urogenital Diseases |
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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. |
| Day 1 |
| Describe the hormonal substitution adjustments. | The description of hormone replacement adjustments will be based on the prescription of Hydrocortisone and Fludrocortisone. | Day 1 |
| AP-HP Hôpital Bicêtre, Service Endocrinologie | Recruiting | Le Kremlin-Bicêtre | France |
|
| Service d'endocrinologie, Hôpital Pitié Salpêtrière | Recruiting | Paris | France |
|
| Service d'endocrinologie, Hôpital Saint Antoine | Recruiting | Paris | France |
|
| D005261 | Female Urogenital Diseases and Pregnancy Complications |
| D000091642 | Urogenital Diseases |
| D052801 | Male Urogenital Diseases |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D030342 | Genetic Diseases, Inborn |
| D043202 | Steroid Metabolism, Inborn Errors |
| D008661 | Metabolism, Inborn Errors |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D000307 | Adrenal Gland Diseases |
| D004700 | Endocrine System Diseases |
| D006058 | Gonadal Disorders |