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

Genotype Clinical Trial

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT05449080
• Other study ID #: OBGY-202206.03
• Status: Completed
• Start date: October 1, 2021
• Est. completion date: December 31, 2021

Study information

• Verified date: July 2022
• Source: Universitas Padjadjaran
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

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

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 3
• Est. completion date: December 31, 2021
• Est. primary completion date: December 1, 2021
• Accepts healthy volunteers: No
• Gender: Female
• Age group: N/A and older

Eligibility

Inclusion Criteria:

• 3 female siblings with identical complaints of no menarche

Exclusion Criteria:

• patients outside this family.

Related Conditions & MeSH terms

• Disorders of Sex Development
• Genotype

Intervention

Diagnostic Test:
• Karyotype
Patients were subjected to karyotype to determine their genotype

Locations

Country	Name	City	State
Indonesia	Department of Obstetrics and Gynecology, Universitas Padjadjaran	Bandung

Sponsors (1)

Lead Sponsor	Collaborator
Universitas Padjadjaran

Country where clinical trial is conducted

Indonesia, 

References & 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. — View Citation

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. — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Karyotype	Patient's karyotype	1 month after testing