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

Universitas Padjadjaran

Status: Completed

Conditions: Genotype

Treatments: Diagnostic Test: Karyotype

Study type: Observational

Funder types: Other

Identifiers

NCT05449080

OBGY-202206.03

Details and patient eligibility

About

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

Full 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.

Enrollment: 3 patients

Sex: Female

Volunteers: No Healthy Volunteers

Inclusion criteria

• 3 female siblings with identical complaints of no menarche

Exclusion criteria

• patients outside this family.

Trial design

3 participants in 1 patient group

Cases

Description:

subjects with type 2 5-alpha reductase deficiency

Treatment:

Diagnostic Test: Karyotype