Disorders of Sex Development (DSD) 46.XY in Three Siblings

July 3, 2022 updated by: Universitas Padjadjaran

Disorders of Sex Development (DSD) 46.XY Due to Type 2 5-Α Reductase Deficiency in Three Siblings: Case Report From a Low-Resource Setting

This is a case series of three siblings with DSD 46,XY with relevant discussion

Study Overview

Status

Completed

Conditions

Intervention / Treatment

Detailed Description

This is a case series of three sisters with DSD 46 X,Y. Three sisters, aged nineteen, seventeen, and fifteen years old came with an identical complaint of late menarche. Physical examinations, lab results and karyotypes were performed.

Study Type

Observational

Enrollment (Actual)

3

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • Indonesia
      • Bandung, Indonesia, 40161
        • Department of Obstetrics and Gynecology, Universitas Padjadjaran

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • ADULT
  • OLDER_ADULT
  • CHILD

Accepts Healthy Volunteers

No

Genders Eligible for Study

Female

Sampling Method

Non-Probability Sample

Study Population

The patients were 3 female siblings with identical complaints of no menarche of varying ages. Patients were subjected to physical examination, lab tests and karyotype to determine their genotypes.

Description

Inclusion Criteria:

  • 3 female siblings with identical complaints of no menarche

Exclusion Criteria:

  • patients outside this family.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
Cases
subjects with type 2 5-alpha reductase deficiency
Diagnostic test: Karyotype
Patients were subjected to karyotype to determine their genotype

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Karyotype
Time Frame: 1 month after testing
Patient's karyotype
1 month after testing

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Universitas Padjadjaran

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (ACTUAL)

October 1, 2021

Primary Completion (ACTUAL)

December 1, 2021

Study Completion (ACTUAL)

December 31, 2021

Study Registration Dates

First Submitted

June 26, 2022

First Submitted That Met QC Criteria

July 3, 2022

First Posted (ACTUAL)

July 8, 2022

Study Record Updates

Last Update Posted (ACTUAL)

July 8, 2022

Last Update Submitted That Met QC Criteria

July 3, 2022

Last Verified

July 1, 2022

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • OBGY-202206.03

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

UNDECIDED

IPD Plan Description

Anonymous data on female subjects may be shared with reasonable written request to the authors.

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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