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

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

Completed

Looking for future studies?

Key information

Conditions

Genotype Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disorders of Sex Development Endocrine System Diseases Female Urogenital Diseases Female Urogenital Diseases and Pregnancy Complications Gonadal Disorders Male Urogenital Diseases Urogenital Abnormalities Urogenital Diseases

Sex eligibility

Female

Study type

Observational

Primary location

Department of Obstetrics and Gynecology, Universitas Padjadjaran

Bandung, 40161, Indonesia

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

3 female siblings with identical complaints of no menarche

Exclusion criteria

patients outside this family.

Treatment and study plan

Karyotype

Diagnostic Test

Patients were subjected to karyotype to determine their genotype

Primary outcomes

Karyotype

Time frame: 1 month after testing

Patient's karyotype

Sponsors and collaborators

Lead sponsor

Universitas Padjadjaran

Other

Registry information

Official study title

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

Important dates

Study start: 2021
Primary completion: 2021
Study completion: 2021
First posted: Jul 8, 2022
Registry last updated: Jul 8, 2022

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed