Electronic Registry of Male Patients With Congenital Adrenal Hyperplasia 21-hydroxylase Deficiency

Launched by IRCCS AZIENDA OSPEDALIERO-UNIVERSITARIA DI BOLOGNA · Dec 30, 2024

Keywords

ClinConnect Summary

This clinical trial is focused on understanding and tracking male patients with Congenital Adrenal Hyperplasia (CAH) caused by a specific enzyme deficiency known as 21-hydroxylase deficiency. The study aims to gather information from patients who have been diagnosed with this condition, whether recently or in the past, to help improve monitoring and care practices. Men aged 18 and older who have a confirmed diagnosis and have undergone genetic testing for the condition are invited to participate.

If you decide to join the study, you will undergo routine medical tests and procedures as part of your regular healthcare. The trial is currently recruiting participants, and it is important to note that only males with a clear diagnosis of CAH caused by the CYP21A2 gene mutation can take part. This study is an opportunity to contribute to a better understanding of CAH and improve care for others with the condition.

Gender

MALE

Eligibility criteria

• Inclusion Criteria:
• • Male gender;
• • Age 18 years or older;
• • Newly or previously diagnosed patients with CAH from 21-hydroxylase enzyme deficiency, in whom CYP21A2 gene analysis for determination of pathological mutations and genotype has already been performed;
• • Obtaining informed consent.
• Exclusion Criteria:
• • Patients with an unsure diagnosis of CAH;
• • Patients with CAH caused by (or with the co-presence of) pathogenic molecular alterations other than mutations in the CYP21A2 gene.