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A study on clinical features , hormonal levels and genetic causes in individuals with atypical genitalia

Clinical,Biochemical,genetic profile and gender identity pattern in Disorders of sex development - NIL

Status
Recruiting
Phases
Unknown
Study type
Observational
Source
CTRI
Registry ID
CTRI/2025/07/091162
Enrollment
60
Registered
2025-07-18
Start date
Unknown
Completion date
Unknown
Last updated
2025-12-08

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Health Condition 1: E349- Endocrine disorder, unspecified

Interventions

Intervention1: Nil: Nil

Sponsors

Department Of Endocrinology
Lead Sponsor

Eligibility

Inclusion criteria

Inclusion criteria: 46 XX and 46 XY DSD with genital ambiguity,proximal or midshaft hypospadias,Apparent female genitalia with clitoromegaly,Female phenotype with primary amenorrhoea,Children with inguinal or labial mass,Posterior labial fusion and common urogenital sinus

Exclusion criteria

Exclusion criteria: Sex chromosomal DSD like Turner syndrome and Klinefelter syndrome. Ambiguous genitalia due to maternal androgen exposure ,maternal virilizing ovarian or adrenal tumour

Design outcomes

Primary

MeasureTime frame
To identify proportion of patients in whom a pathogenic or likely pathogennic variant is idenitfied explaining the DSD phenotypeTimepoint: Baseline—

Secondary

MeasureTime frame
To find any discrepancy in assigned gender at birth & gender identity pattern in adolescense Timepoint: Baseline—

Countries

India

Contacts

Public ContactAravind kumar

Madurai Medical college

drsridharjipmer@gmail.com9789720246

Outcome results

None listed

Source: CTRI (via WHO ICTRP) · Data processed: Feb 4, 2026