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Ambiguous genitalia-A social dilemma in Bangladesh: A case report
Mohiuddin Ahsanul Kabir Chowdhury1, Rashidul Anwar1, Arnab Saha2
1International Centre for Diarrhoeal Diseases Research, 68, Shaheed Tajuddin Ahmed Sarani, Mohakhali, Dhaka, 1212, Bangladesh.
Insights
Ambiguous genitalia, a birth defect affecting sex differentiation, requires timely diagnosis and treatment. This case highlights the importance of addressing this condition despite social taboos, particularly in regions like Bangladesh.
Area of Science:
- Pediatric Endocrinology
- Genetics
- Surgical Management
Background:
- Ambiguous genitalia presents as a birth defect where a newborn's sex is unclear due to atypical external genitalia.
- This condition can cause confusion regarding sex differentiation, impacting social integration.
Purpose of the Study:
- To present a case study of ambiguous genitalia in an infant.
- To discuss the diagnostic and therapeutic challenges.
- To emphasize the need for social awareness regarding this curable disorder.
Main Methods:
- Clinical examination revealed enlarged clitoris/micropenis, bifid scrotum/labioscrotal fold, and separate urethral/vaginal orifices.
- Ultrasonogram showed a rudimentary uterus and undescended testes.
- Hormonal studies and karyotyping (46XY) were performed.
- Hormonal treatment and surgical interventions were undertaken.
Main Results:
- The patient presented with features of ambiguous genitalia and a 46XY karyotype.
- Hormonal imbalance included low testosterone, normal DHT, and high estradiol.
- Successful hormonal treatment and surgical interventions were followed by discharge with follow-up advice.
Conclusions:
- Ambiguous genitalia is a curable disorder that requires prompt medical attention.
- Social stigma surrounding ambiguous genitalia in Bangladesh necessitates increased public awareness.
- Early diagnosis and management are crucial for the child's well-being.
Introduction:
Ambiguous Genitalia is a form of birth defect in which sex of the newborn cannot be readily distinguishable because of atypical appearance of the external genitalia.
Case Report-Clinical Findings:
The patient, an 8 months old baby, was identified as a female baby since birth; but, some senior members of their neighborhood raised confusion regarding sex differentiation of the child. On examination, there was enlarged clitoris or micropenis, bifid scrotum or labioscrotal fold, and separate presence of urethral and vaginal orifices. Right testis was found in the middle of right inguinal canal and left testis was found near the deep inguinal ring.
Case Report-Diagnosis, Therapeutic Intervention And Outcome:
The ultrasonogram showed a rudimentary uterus measuring 26.7×7.27mm with no ovary and the right testis was found in the mid inguinal canal while the left testis was in the deep inguinal ring. Diagnostic endoscopic procedure showed normal appearing testes in deep inguinal ring, about 2cm vaginal remnant with normal urethra and bladder. Hormonal study revealed low serum testosterone with normal DHT and high oestradiol while the karyotyping revealed 46XY. After 3 months of hormonal treatment, multiple surgical interventions were taken to correctly determine the sex of the child. Later on the patient was discharged with follow up advices.
Conclusion:
'Ambiguous genitalia' is considered as a taboo in Bangladesh; hence, the social awareness regarding this curable disorder is a timely need in Bangladesh.
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