Health Condition 1: Q562- Female pseudohermaphroditism, notelsewhere classified Health Condition 2: Q560- Hermaphroditism, not elsewhere classified Health Condition 3: Q541- Hypospadias, penile Health Condition 4: Q542- Hypospadias, penoscrotal Health Condition 5: Q543- Hypospadias, perineal Health Condition 6: Q564- Indeterminate sex, unspecified Health Condition 7: Q561- Male pseudohermaphroditism, not elsewhere classified Health Condition 8: Q563- Pseudohermaphroditism, unspecified Health Con
Conditions
Interventions
Intervention1: NIL: no Intervention is given to the patients
Sponsors
Dept of Endocrinology, T.N. Medical College & BYL Nair Charitable Hospital, Mumbai
Eligibility
Inclusion criteria
Inclusion criteria: 1. Overt genital ambiguity 2. Apparent female genitalia with an enlarged clitoris, posterior labial fusion, or an inguinal/labial mass 3. Apparent male genitalia with bilateral undescended testes, micropenis, isolated perineal hypospadias, or mild hypospadias with undescended testis 4. Discordance between genital appearance and a prenatal karyotype 5. External Masculinisation Score of less than 11 6. All patients with 46XY karyotype diagnosed to have disorders of sex development who provide consent to be part of the study
Exclusion criteria
Exclusion criteria: 1. Subjects diagnosed to have differences/ disorders of sex development who do not have a 46XY karyotype 2. Patients who do not consent to be part of study
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| To compare the clinical phenotype, hormonal profile and genetic profile among patients with various subtypes of 46XY DSDTimepoint: At the time of presentation in the outpatient dept of the hospital | — |
Secondary
| Measure | Time frame |
|---|---|
| To assess and compare patients within the various subtypes of 46XY DSD, the Gender identity/ Gender Role Behaviour/ Gender Dysphoria using questionnairesTimepoint: At the time of presentation in the outpatient dept of the hospital;To assess and compare patients within the various subtypes of 46XY DSD, the Patient’s Quality of life using questionnairesTimepoint: At the time of presentation in the outpatient dept of the hospital;To assess and compare patients within the various subtypes of 46XY DSD, the Patient’s sexual functionsTimepoint: At the time of presentation in the outpatient dept of the hospital;To assess and compare patients within the various subtypes of 46XY DSD, the Parent’s Quality of life using questionnairesTimepoint: At the time of presentation in the outpatient dept of the hospital | — |
Countries
India
Contacts
Public ContactDr Abraham Alex Kodiatte
Topiwala National Medical College & Bai Yamunabai Laxman Nair Charitable Hospital, Mumbai
Outcome results
None listed