Electronic Registry of Male Patients With Congenital Adrenal Hyperplasia 21-hydroxylase Deficiency
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: Congenital Adrenal Hyperplasia. Basic parameters: from 18 years · Male.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- Italy
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Overview
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.
Detailed description
Observational, retrospective, prospective, single-center cohort study conducted at the UOC of Endocrinology and Diabetes Prevention and Treatment of IRCCS AOU of Bologna. 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.
For the retrospective phase, patients whose diagnosis of CAH was made on or after 01/01/1960 will be enrolled, and observation related to this phase will be extended until this study is approved.
The study population is partly from direct access at the U.O.C. of Endocrinology and Diabetes Prevention and Treatment, as the regional referral center for this rare disease (congenital adrenal hyperplasia).
The potentially involved cohort is estimated to be about 30 patients at the time the registry was established. It is assumed that both retrospective and prospective phases can be completed in 15 subjects and retrospective alone in the remaining 15 subjects.
The registry may become the reference for calculating incidence and prevalence in Emilia Romagna of the disease under study.
Primary outcome measures
- Creation of an electronic registry [Time frame: through study completion, an average on 31 December 2032]
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.
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Cohort
Study locations
Italy · 1 center
- IRCCS Azienda Ospedaliero Universitaria di Bologna — Bologna
Identifiers
NCT: NCT06754423 · AndroCAH