Objective:

To determine different Clinical spectrum, biochemical and radiological profile, External masculinization score (EMS) of 46, XY disorder of sex differentiation (DSD) and its etiological diagnosis.

Methodology:

This is a cross-sectional, observational study conducted at National Institute of Child Health, Pakistan. Patients with clinical presentation of DSD who were labeled XY on karyotyping were enrolled in the study after explanation of study protocol in the language of understanding to parents/guardians. A thorough clinical examination consisting of height, weight, blood pressure, presence of hyperpigmentation, assessment of pubertal stage, penile length, The External Masculinization Score (EMS) scoring, associated anomalies or dysmorphic features were made and recorded for each patient. Statistical Package for Social Sciences (SPSS) version 23 was used to enter, sort and analyze the data. Shapiro – Wilk test was used to determine the normality of data.

Results:

Mean age of study participants was reported as 5.0 ± 4.1 years at the time of presentation, the most frequently reported presenting complain was Atypical genitalia in 54 (43.2%) followed by Bilateral Inguinal Hernia in 21 (16.8%) of patients. Mean EMS scoring associated with presenting complain, Atypical Genitalia reported mean EMS scoring of 4.43 ± 2.4, bilateral inguinal hernia as 8.4 ± 3.2, Hypospadias as 6.6 ± 1.0, Micro penis as 8.2 ± 1.2, Precocious puberty as 11.6 ± 0.4, Right inguinal hernia as 5.1 ± 4.0, Small phallus as 8.3 ± 0.7 and small testis as 10.5 ± 1.6 respectively. HCG stimulation test was presented as positive in 106 (84.8%) and negative in 16 (12.8%).

Conclusion:

This study concludes that 46 XY DSD has higher incident rate in Pakistan, however, by understanding the diversity of presenting complaints, examination findings, radiological anatomy and hormonal profile these cases can be predicted and manage accordingly, these cases are presented in a variety of ways.

Keywords: DSD, 46XY, Sex differentiation, External masculinization score (EMS)