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

Recruitingn/aAges 18 Years - anyMaleIRCCS Azienda Ospedaliero-Universitaria di Bologna
NCT06754423 on ClinicalTrials.gov ↗
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In plain words

What the trial is, and whether it could suit you

Observational, retrospective, prospective, single-center cohort study. Participation in the registry will be offered consecutively to any patient with the disease, newly diagnosed or with documented diagnosis made at another center, at any stage of the disease. Laboratory tests, imaging study for patient monitoring and care procedures all will be conducted in accordance with normal clinical practice.

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📋 Eligibility rules (as published)
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.
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What it tests

  • Not listed
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Where

1 site
IRCCS Azienda Ospedaliero Universitaria di Bologna
Bologna, Italy
🤝 Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible — always decide together with your own doctor.
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