Disorders of Sex Development (DSD) 46.XY in Three Siblings
NCT ID: NCT05449080
Last Updated: 2022-07-08
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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COMPLETED
3 participants
OBSERVATIONAL
2021-10-01
2021-12-31
Brief Summary
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Detailed Description
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Conditions
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Study Design
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CASE_ONLY
RETROSPECTIVE
Study Groups
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Cases
subjects with type 2 5-alpha reductase deficiency
Karyotype
Patients were subjected to karyotype to determine their genotype
Interventions
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Karyotype
Patients were subjected to karyotype to determine their genotype
Eligibility Criteria
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Inclusion Criteria
Exclusion Criteria
FEMALE
No
Sponsors
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Universitas Padjadjaran
OTHER
Responsible Party
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Locations
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Department of Obstetrics and Gynecology, Universitas Padjadjaran
Bandung, , Indonesia
Countries
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References
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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.
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.
Other Identifiers
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OBGY-202206.03
Identifier Type: -
Identifier Source: org_study_id
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