Parenting and CAH - 21-hydroxylase Deficiency

Condition(s) studied

Investigational drug(s) / intervention(s)

phone questionnaire: the investigator calls the patient and asks her questions about her parental project and her pregnancies

Study 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.

Eligibility

Primary outcome measure(s)

• 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.

Trial sites (7)

More Assistance Publique - Hôpitaux de Paris trials in France