Online ISSN: 2149-3189
2015
Monthly
Nicaea Medical Publishing
Türkiye

''Should the child be raised as male or female?'' The evaluation and management of different causes of ambiguous genital appearance in children

Salma Al Khanjari, Malak Saleem Al Balushi, Ravi Prakash Kanojia, Mohammed Jaffer Al Sajwani
DOI
https://doi.org/10.18621/eurj.1285835
Abstract
Diagnosing, managing and assigning gender for different causes of ambiguous genitalia in children can be challenging. This article will discuss about the types, diagnosis and treatment of disorders of sex development including congenital adrenal hyperplasia, 46 XY mixed gonadal dysgenesis and 46XY ovotesticular disorder of sex development. This article reports about 3 cases of disorders of sex development. The first case is about a three-year-old girl who was diagnosed with congenital adrenal hyperplasia, genital examination revealed clitoromegaly and a single urogenital sinus; she was managed medically and surgically. The second case is about a one-month-old child with 46XY karyotype, genital examination revealed penoscrotal hypospadias with right palpable and left impalpable gonads. Patient underwent diagnostic laparoscopy in which both female and male internal organs were found; based on these results a diagnosis of 46XY ovotesticular disorder of sex development was made. The third case is about a 3-month-old child with 46XY karyotype, genital examination revealed hypospadias with bilateral impalpable gonads. Diagnostic laparoscopy showed a uterus with a bilateral ovary-looking gonad; histopathology of the bilateral ovary-looking gonads was consistent with testicular tissue. Based on the above, a diagnosis of 46XY mixed gonadal dysgenesis was made. Disorders of sex development are classified into three main categories based on the karyotype, XX, XY and sex chromosome other than XX and XY. Laboratory investigations, karyotype, genetic analysis, imaging, surgery and tissue biopsy, all aid in diagnosing, deciding gender identity and managing different types of disorders of sex development.
Keywords
Ambiguous genitalia, disorders of sex development, ovotesticular disorder, mixed gonadal dysgenesis
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How to Cite
1.
Al Khanjari S, Al Balushi MS, Kanojia RP, Al Sajwani MJ. ’’Should the child be raised as male or female?’’ The evaluation and management of different causes of ambiguous genital appearance in children. Eur Res J. 2023;9(6):1520-1528. doi:10.18621/eurj.1285835
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View Vol. 9 No. 6 (2023)

Vol. 9 No. 6 (2023)

Article Information

  • Article Type Case Report
  • Submitted February 21, 2026
  • Published November 3, 2023
  • Issue Vol. 9 No. 6 (2023)
  • Section Case Report
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