Combined Use of Machine Learning and Metabolomics to Improve the Diagnosis and Management of Hyperandrogenism (HYPERMETABO)

Hyperandrogenism is a common reason for consultation, the causes of which can range from common conditions (PCOS) to rarer conditions with major genetic implications (NC21OHD). It is characterized by elevated levels of circulating androgens, mainly testosterone. This excess of androgens usually manifests clinically as increased male-pattern hair growth and, less specifically, acne and alopecia. Its prevalence is estimated at between 6 and 12% in women of reproductive age, and its incidence is increasing.

It is also responsible for infertility. As a reminder, infertility is a major public health issue and affects more and more couples around the world.

The investigators therefore wish to develop innovative tools to improve the diagnosis and management of hyperandrogenism

Study Overview

• Status: Not yet recruiting
• Conditions: Hyperandrogenism
• Intervention / Treatment: Other: data collection

Detailed Description

Hyperandrogenism is a common reason for consultation, the causes of which can range from common conditions (PCOS) to rarer conditions with major genetic implications (NC21OHD). It is characterized by elevated levels of circulating androgens, mainly testosterone. This excess of androgens usually manifests clinically as increased male-pattern hair growth and, less specifically, acne and alopecia. Its prevalence is estimated at between 6 and 12% in women of reproductive age, and its incidence is increasing.

It is also responsible for infertility. As a reminder, infertility is a major public health issue and affects more and more couples around the world.

The investigators therefore wish to develop innovative tools to improve the diagnosis and management of hyperandrogenism

• Study Type: Observational
• Enrollment (Estimated): 800

Contacts and Locations

• Study Contact: Name: Anne Pr BACHELOT; Phone Number: 0033 01 42 16 02 46; Email: anne.bachelot@aphp.fr

Participation Criteria

Eligibility Criteria

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

• Sampling Method: Non-Probability Sample

Study Population

The first stage of the study will involve participating centers selecting patients' medical records after verifying their eligibility. It should be noted that the control group will consist of a population for whom tests were carried out for symptoms that were ultimately ruled out with normal results.

Description

Inclusion Criteria:

• Patients of childbearing age (16 to 45 years old)
• Suffering from hyperandrogenism
• Established etiological diagnosis with elimination of differential diagnoses
• Informed and not opposed to the collection of their data for the purposes of the study

Exclusion Criteria:

• Pregnancy
• Patients under legal protection measures

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
principal group	Other: data collection; collection of data from medical records over a period of 5 years

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
Use of machine learning models combined with metabolomics to distinguish between different causes of hyperandrogenism	5 years

Secondary Outcome Measures

Outcome Measure	Time Frame
Use of metabolomics to improve the management of patients with hyperandrogenism	5 years
Use of metabolomics to predict CYP21A2 genotyping results	5 years
Study of the impact of anti-androgenic hormone therapy on the predictive capabilities of the model	5 years

Collaborators and Investigators

• Sponsor: Assistance Publique - Hôpitaux de Paris

Study record dates

Study Major Dates

• Study Start (Estimated): January 1, 2026
• Primary Completion (Estimated): December 1, 2040
• Study Completion (Estimated): December 1, 2040

Study Registration Dates

• First Submitted: November 19, 2025
• First Submitted That Met QC Criteria: November 19, 2025
• First Posted (Estimated): November 28, 2025

Study Record Updates

• Last Update Posted (Estimated): December 4, 2025
• Last Update Submitted That Met QC Criteria: November 27, 2025
• Last Verified: October 1, 2025

More Information

Terms related to this study

• Keywords: fertility
• Additional Relevant MeSH Terms: Urogenital Diseases; Endocrine System Diseases; Male Urogenital Diseases; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Gonadal Disorders; Congenital Abnormalities; Disorders of Sex Development; Urogenital Abnormalities; 46, XX Disorders of Sex Development; Adrenogenital Syndrome; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hyperandrogenism; Health Care Quality, Access, and Evaluation; Investigative Techniques; Epidemiologic Methods; Health Care Evaluation Mechanisms; Quality of Health Care; Public Health; Environment and Public Health; Data Collection
• Other Study ID Numbers: APHP251139

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: YES

IPD Plan Description

The procedures carried out with the French data privacy authority (CNIL, Commission nationale de l'informatique et des libertés) do not provide for the transmission of the database, nor do the information and consent documents signed by the patients.

Consultation by the editorial board or interested researchers of individual participant data that underlie the results reported in the article after deidentification may nevertheless be considered, subject to prior determination of the terms and conditions of such consultation and in respect for compliance with the applicable regulations.

• IPD Sharing Time Frame: Beginning 3 months and ending 3 years following article publication. Requests out of these time frame can also be submitted to the sponsor
• IPD Sharing Access Criteria: Researchers who provide a methodologically sound proposal.
• IPD Sharing Supporting Information Type: STUDY_PROTOCOL; ICF

Drug and device information, study documents

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