| Summary: | Among the diverse clinical manifestations of Disorders of Sex Development (DSD), the ambiguous look of genitalia is the most typical disorder. In this condition, the sex of the newborn cannot be readily differentiated because of atypical appearance of the external genitalia. Thus, the treatment of such a child is composite from both sociocultural and medical viewpoints. Decisions that affect the future sexual function and sex assignment of the child are made on behalf of the child by their parents and healthcare professionals. Such decisions are rarely simple and straightforward. The outcome data resulting from such decisions is limited and conflicting, and cannot offer clear guidelines to the community. This case presents a 20-year-old patient who presented with primary amenorrhea and delayed pubertal features, and was diagnosed as 46, XY typical male genotype. As she had presented with a female phenotype at birth, she had been raised as a female and developed a consistently female sex identity. She underwent surgery, during which remnant testes were removed, and bilateral breast augmentation and clitoroplasty were performed. This decision to be rehabilitated as a girl was made by the patient herself. In this part of the world, sexual variation that blurs the line between male and female is stigmatized. The birth of a child with DSD is emotionally traumatizing and considered a social stigma and taboo. Therefore, social familiarity regarding this treatable disorder is currently needed in Pakistan irrespective of the cultural, social, and religious beliefs, and to protect the society from the ambiguous obscurity of the unthinkable of what was earlier called “intersex disorders.”
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