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

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

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT05449080

Enrollment

Registered

2022-07-08

Start date

2021-10-01

Completion date

2021-12-31

Last updated

2022-07-08

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Genotype

Keywords

Disorders of Sex Development, Type 2 5-alpha reductase deficiency

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.

Interventions

DIAGNOSTIC_TESTKaryotype

Patients were subjected to karyotype to determine their genotype

Study design

Observational model

CASE_ONLY

Time perspective

RETROSPECTIVE

Eligibility

Sex/Gender

FEMALE

Healthy volunteers

Inclusion criteria

* 3 female siblings with identical complaints of no menarche

Exclusion criteria

* patients outside this family.

Design outcomes

Primary

Measure	Time frame	Description
Karyotype	1 month after testing	Patient's karyotype

Countries

Indonesia

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Feb 4, 2026