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

Completed

• Conditions: Genotype
• Interventions: Diagnostic Test: Karyotype

• Registration Number: NCT05449080
• Lead Sponsor: Universitas Padjadjaran

Brief Summary

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

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 Timeline

• Study Start: 2021-10-01
• Primary Completion: 2021-12-01
• Study Completion: 2021-12-31
• Study First Submitted: 2022-06-26
• Status Verified: 2022-07
• Study First Submitted QC: 2022-07-03
• Last Update Submitted: 2022-07-03
• Study First Posted: 2022-07-08
• Last Update Posted: 2022-07-08

Recruitment & Eligibility

• Status: COMPLETED
• Sex: Female
• Target Recruitment: 3

Inclusion Criteria

• 3 female siblings with identical complaints of no menarche

Exclusion Criteria

• patients outside this family.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Cases	Karyotype	subjects with type 2 5-alpha reductase deficiency

Primary Outcome Measures

Name	Time	Method
Karyotype	1 month after testing	Patient's karyotype

Trial Locations

Locations (1)

Department of Obstetrics and Gynecology, Universitas Padjadjaran; 🇮🇩 Bandung, Indonesia