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This is a case series of three siblings with DSD 46,XY with relevant discussion
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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Cases | subjects with type 2 5-alpha reductase deficiency |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Karyotype | Diagnostic Test | Patients were subjected to karyotype to determine their genotype |
|
| Measure | Description | Time Frame |
|---|---|---|
| Karyotype | Patient's karyotype | 1 month after testing |
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Inclusion Criteria:
Exclusion Criteria:
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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.
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Department of Obstetrics and Gynecology, Universitas Padjadjaran | Bandung | 40161 | Indonesia |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 31885560 | Background | 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. | |
| 20395661 | Result | 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. |
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Anonymous data on female subjects may be shared with reasonable written request to the authors.
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| ID | Term |
|---|---|
| D012734 | Disorders of Sex Development |
| ID | Term |
|---|---|
| D014564 | Urogenital Abnormalities |
| D052776 | Female Urogenital Diseases |
| D005261 | Female Urogenital Diseases and Pregnancy Complications |
| D000091642 | Urogenital Diseases |
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| ID | Term |
|---|---|
| D059785 | Karyotype |
| ID | Term |
|---|---|
| D002875 | Chromosomes |
| D040342 | Genetic Structures |
| D055614 | Genetic Phenomena |
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| D052801 | Male Urogenital Diseases |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D006058 | Gonadal Disorders |
| D004700 | Endocrine System Diseases |