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

Description of Parental Projects, Pregnancies and Pregnancy Outcomes in Patients With a Classic Form of 21-hydroxylase Deficiency

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.

Study Overview

• Status: Recruiting
• Conditions: CAH - 21-Hydroxylase Deficiency
• Intervention / Treatment: Other: phone questionnaire

• Study Type: Observational
• Enrollment (Estimated): 200

Contacts and Locations

• Study Contact: Name: Anne BACHELOT; Phone Number: 01 42 16 02 46; Email: anne.bachelot@aphp.fr

Study Locations

• France
  • Bron, France
    • Recruiting
    • Hospices Civiles de Lyon - Hôpital Femme Mère Enfant, Service Endocrinologie
    • Contact: Aude BRAC DE LA PERRIERE; Phone Number: 04 27 85 66 66; Email: aude.brac@chu-lyon.fr
  • Le Kremlin-Bicêtre, France
    • Recruiting
    • AP-HP Hôpital Bicêtre, Service Endocrinologie
    • Contact: Lise DURANTEAU; Phone Number: 0145217300; Email: lise.duranteau@aphp.fr
  • Paris, France
    • Recruiting
    • Service d'endocrinologie, Hôpital Pitié Salpêtrière
    • Contact: Anne BACHELOT; Phone Number: 0142160246; Email: anne.bachelot@aphp.fr
  • Paris, France
    • Recruiting
    • Service d'endocrinologie, Hôpital Saint Antoine
    • Contact: Sophie CHRISTIN MAITRE; Phone Number: 0149282969; Email: sophie.christin-maitre@aphp.fr

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Adult; Older Adult
• Accepts Healthy Volunteers: No

• 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

Description

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.

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	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

Secondary Outcome Measures

Outcome Measure	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	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

Collaborators and Investigators

• Sponsor: Assistance Publique - Hôpitaux de Paris

Study record dates

Study Major Dates

• Study Start (Actual): March 16, 2026
• Primary Completion (Estimated): March 16, 2027
• Study Completion (Estimated): March 16, 2027

Study Registration Dates

• First Submitted: March 21, 2025
• First Submitted That Met QC Criteria: March 21, 2025
• First Posted (Actual): March 28, 2025

Study Record Updates

• Last Update Posted (Actual): March 27, 2026
• Last Update Submitted That Met QC Criteria: March 23, 2026
• Last Verified: March 1, 2026

More Information

Terms related to this study

• Keywords: fertility; pregnancy outcomes; parental project; pregnancy related; congenital adrenal hyperplasia due to 21; hydroxylase deficiency; hormonal substitution
• Additional Relevant MeSH Terms: Urogenital Diseases; Endocrine System Diseases; Male Urogenital Diseases; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Metabolic Diseases; Gonadal Disorders; Congenital Abnormalities; Adrenal Gland Diseases; Disorders of Sex Development; Urogenital Abnormalities; Steroid Metabolism, Inborn Errors; Adrenogenital Syndrome; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Adrenal Hyperplasia, Congenital
• Other Study ID Numbers: APHP250491

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: YES

IPD Plan Description

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.

• IPD Sharing Time Frame: Beginning 3 months and ending 3 years following article publication. Requests out of these time frame can also be submitted to the sponsor
• IPD Sharing Access Criteria: Researchers who provide a methodologically sound proposal.
• IPD Sharing Supporting Information Type: STUDY_PROTOCOL; ICF

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No