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.
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.
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.
The study population partly comes from direct access at the O.U. of Endocrinology and Diabetes Prevention and Treatment, as a regional referral center for this rare disease (congenital adrenal hyperplasia). A second part afferents instead from the O.U. of Pediatrics of the Polyclinic through the "interdepartmental procedure for the management of the transition of patients with endocrine-metabolic diseases from pediatric endocrinology to adult endocrinology."
Cohort
Other
Not listed
Creation of an electronic registry
The primary objective of the study is to create an electronic registry and, through the data contained therein, to describe the clinical-laboratory aspects, prevalence, and type of alterations in gonadal function of a cohort of male patients, aged 18 years or older, with congenital adrenal hyperplasia from 21-hydroxylase deficiency regardless of the time of diagnosis.
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