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

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.

Study Overview

• Status: Recruiting
• Conditions: Congenital Adrenal Hyperplasia

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.

• Study Type: Observational
• Enrollment (Estimated): 30

Contacts and Locations

• Study Contact: Name: Alessandra Gambineri, MD; Phone Number: +390512144628; Email: alessandra.gambineri@aosp.bo.it

Study Locations

• Italy
  • Bologna, Italy, 40138
    • Recruiting
    • IRCCS Azienda Ospedaliero Universitaria di Bologna
    • Contact: Alessandra Gambineri, MD; Phone Number: +390512144628; Email: alessandra.gambineri@aosp.bo.it

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

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."

Description

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.

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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.	through study completion, an average on 31 December 2032

Collaborators and Investigators

• Sponsor: IRCCS Azienda Ospedaliero-Universitaria di Bologna
• Investigators: Principal Investigator: Alessandra Gambineri, MD, IRCCS Azienda Ospedaliero-Universitaria di Bologna

Study record dates

Study Major Dates

• Study Start (Actual): June 24, 2022
• Primary Completion (Estimated): June 24, 2032
• Study Completion (Estimated): December 31, 2032

Study Registration Dates

• First Submitted: December 1, 2024
• First Submitted That Met QC Criteria: December 30, 2024
• First Posted (Actual): March 25, 2025

Study Record Updates

• Last Update Posted (Actual): March 25, 2025
• Last Update Submitted That Met QC Criteria: December 30, 2024
• Last Verified: December 1, 2024

More Information

Terms related to this study

• Keywords: Congenital adrenal hyperplasia
• Additional Relevant MeSH Terms: Urogenital Diseases; Endocrine System Diseases; Pathologic Processes; Male Urogenital Diseases; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Metabolic Diseases; Gonadal Disorders; Congenital Abnormalities; Adrenal Gland Diseases; Disorders of Sex Development; Urogenital Abnormalities; Steroid Metabolism, Inborn Errors; Hyperplasia; Adrenal Hyperplasia, Congenital; Adrenogenital Syndrome; Adrenocortical Hyperfunction
• Other Study ID Numbers: AndroCAH

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No