GenotypeNCT05449080
Disorders of Sex Development (DSD) 46.XY in Three Siblings
An observational study of Genotype, run by Universitas Padjadjaran at 1 site in Indonesia.
Trial summary
This is a case series of three siblings with DSD 46,XY with relevant discussion Read more about this study
- Who is it for?
- Any age, women only
- Conditions the study is for
- Genotype
- What is being tested?
- Karyotype
- How many people
- 3 participants
- Where
- 1 siteIndonesia
- Study dates
- 1 Oct 2021to 31 Dec 2021
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- Women only
- No healthy volunteers
- Child, Adult, Older adult
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.
Who may be able to join
- 3 female siblings with identical complaints of no menarche
Who cannot join
- patients outside this family.
Trial locations and contacts
1 site in 1 country.
Indonesia1 site
Department of Obstetrics and Gynecology, Universitas Padjadjaran
Bandung, 40161
About this study
Official 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
This is a case series of three siblings with DSD 46,XY with relevant discussion
Read the 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.
- Conditions
- Genotype
- Being tested
- Karyotype
- Keywords
- Disorders of Sex Development, Type 2 5-alpha reductase deficiency
- Medical subject headings
- Disorders of Sex Development
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
KaryotypeDiagnostic test
Patients were subjected to karyotype to determine their genotype
| Study group | Role | What they receive |
|---|---|---|
| Cases | subjects with type 2 5-alpha reductase deficiency Receives: Diagnostic Test: Karyotype |
What is being measured
The primary outcome is the main question the study is designed to answer.
Karyotype
Patient's karyotype
Measured: 1 month after testing
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted8 Jul 2022
- Study start1 Oct 2021
- Primary completion1 Dec 2021
- Study completion31 Dec 2021
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (2)Papers the sponsor has linked to this study.
- Other trials for GenotypeStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case only
- Time perspective
- Retrospective
- Enrolment
- 3 participants (actual)
Sponsor and investigators
- Lead sponsor
- Universitas Padjadjaran
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05449080
- Sponsor's protocol ID
- OBGY-202206.03
- Status last verified
- Jul 2022
- First submitted
- 26 Jun 2022
- Last updated
- 8 Jul 2022
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided: Anonymous data on female subjects may be shared with reasonable written request to the authors.
Publications
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.
PubMed 31885560Walter 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.
PubMed 20395661
Study at a glance
From the registry record, last updated by the sponsor on 8 Jul 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official 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
- ClinicalTrials.gov ID
- NCT05449080
- Acronym / sponsor ID
- OBGY-202206.03
- Conditions
- Genotype
- Keywords
- Disorders of Sex Development, Type 2 5-alpha reductase deficiency
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 3 participants (actual)
- Lead sponsor
- Universitas PadjadjaranUniversity, hospital or other
- Study start
- 1 Oct 2021 (actual)
- Primary completion
- 1 Dec 2021 (actual)
- Study completion
- 31 Dec 2021 (actual)
- First posted
- 8 Jul 2022 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Case only
- Time perspective
- Retrospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Cases | – | Diagnostic Test: Karyotypesubjects with type 2 5-alpha reductase deficiency |
Who may qualify
- Sex
- Female only
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- 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.
Key inclusion criteria (1 listed)
- 3 female siblings with identical complaints of no menarche
Key exclusion criteria (1 listed)
- patients outside this family.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| KaryotypePatients were subjected to karyotype to determine their genotype | Diagnostic test | Cases |
Primary outcome
Karyotype
Time frame: 1 month after testing
Patient's karyotype
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 8 Jul 2022.
- Background: PubMed 31885560Marzuki 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.
- Results publication: PubMed 20395661Walter 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.
- Individual participant dataSharing planned: Undecided. Anonymous data on female subjects may be shared with reasonable written request to the authors.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Genotype, run by Universitas Padjadjaran at 1 site in Indonesia.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 8 Jul 2022. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Indonesia. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Karyotype (time frame: 1 month after testing). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT05449080, which also lists 2 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 8 Jul 2022.