NCT05449080

Brief Summary

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

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
3

participants targeted

Target at below P25 for all trials

Timeline
Completed

Started Oct 2021

Shorter than P25 for all trials

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

October 1, 2021

Completed
2 months until next milestone

Primary Completion

Last participant's last visit for primary outcome

December 1, 2021

Completed
1 month until next milestone

Study Completion

Last participant's last visit for all outcomes

December 31, 2021

Completed
6 months until next milestone

First Submitted

Initial submission to the registry

June 26, 2022

Completed
12 days until next milestone

First Posted

Study publicly available on registry

July 8, 2022

Completed
Last Updated

July 8, 2022

Status Verified

July 1, 2022

Enrollment Period

2 months

First QC Date

June 26, 2022

Last Update Submit

July 3, 2022

Conditions

Genotype

Keywords

Disorders of Sex DevelopmentType 2 5-alpha reductase deficiency

Outcome Measures

Primary Outcomes (1)

  • Karyotype

    Patient's karyotype

    1 month after testing

Study Arms (1)

Cases

subjects with type 2 5-alpha reductase deficiency

Diagnostic Test: Karyotype

Interventions

KaryotypeDIAGNOSTIC_TEST

Patients were subjected to karyotype to determine their genotype

Cases

Eligibility Criteria

Sexfemale
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-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.

You may qualify if:

  • female siblings with identical complaints of no menarche

You may not qualify if:

  • patients outside this family.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Department of Obstetrics and Gynecology, Universitas Padjadjaran

Bandung, 40161, Indonesia

Location

Related Publications (2)

  • Marzuki NS, Idris FP, Kartapradja HD, Harahap AR, Batubara JRL. Characterising SRD5A2 Gene Variants in 37 Indonesian Patients with 5-Alpha-Reductase Type 2 Deficiency. Int J Endocrinol. 2019 Dec 1;2019:7676341. doi: 10.1155/2019/7676341. eCollection 2019.

    PMID: 31885560BACKGROUND

  • Walter KN, Kienzle FB, Frankenschmidt A, Hiort O, Wudy SA, van der Werf-Grohmann N, Superti-Furga A, Schwab KO. Difficulties in diagnosis and treatment of 5alpha-reductase type 2 deficiency in a newborn with 46,XY DSD. Horm Res Paediatr. 2010;74(1):67-71. doi: 10.1159/000313372. Epub 2010 Apr 16.

    PMID: 20395661RESULT

MeSH Terms

Conditions

Disorders of Sex Development

Interventions

Karyotype

Condition Hierarchy (Ancestors)

Urogenital AbnormalitiesFemale Urogenital DiseasesFemale Urogenital Diseases and Pregnancy ComplicationsUrogenital DiseasesMale Urogenital DiseasesCongenital AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesGonadal DisordersEndocrine System Diseases

Intervention Hierarchy (Ancestors)

ChromosomesGenetic StructuresGenetic Phenomena

Study Design

Study Type
observational
Observational Model
CASE ONLY
Time Perspective
RETROSPECTIVE
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

June 26, 2022

First Posted

July 8, 2022

Study Start

October 1, 2021

Primary Completion

December 1, 2021

Study Completion

December 31, 2021

Last Updated

July 8, 2022

Record last verified: 2022-07

Locations

ID(1)