(Guest Editorial) A “Y” CHROMOSOME IS NOT THE ONLY INDICATOR OF GENDER ASSIGNMENT: UNPACKING GENDER AND BIOLOGY

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Author(s): Obaid Ullah Obaid1, Zaara Zahid2

Pages: 3-4 |


The conviction that the “Y “chromosome alone ascertains male gender is trivial. It is not the sole determinant of male identity. This writing aims to rethink sex, gender, and the complexity of male identity, drawing on insights from various disciplines, including paediatricians, gynaecologists, psychologists, and plastic surgeons. The following observations have been found in our gender Multi-Disciplinary Team (MDT) meetings.

  • A child with ambiguous genitalia should not be declared any gender, based on karyotyping alone.
  • MDT is essential as the decision should be shared by the whole team including plastic surgeons.
  • Extreme ambiguity makes gender affirmation challenging and often leads to unsuccessful conversion of genitalia into male organs, particularly in micturition and sexual activity.
  • Before embarking on gender re-assignment, adolescents and adults should change their attire for an agreed period as surgery is irreversible
  • A male DSD can successfully convert to a female phenotype for appearance, and sexual relations except fertility.
  • It must be remembered that nearly 20% of normal couples show infertility.

The Y chromosome and the complexity of male identity is an overlooked topic that needs a collaborative effort in managing sexual development disorders. Doctors are often misled by karyotyping, disregarding future progress. West encourages raising gender-neutral children, but our society lacks the freedom to do so. Therefore, educating family physicians, paediatricians, paediatric surgeons, and general surgeons along with discussing with the parents and adolescents regarding consequences in detail is indispensable.

Severe Disorders of Sexual Development (DSD) analyses show that sex determination is influenced by more than just chromosomes. Androgen insensitivity syndrome (AIS) is a condition where individuals with XY chromosomes produce testosterone but are unresponsive to androgens (1). This leads to the female phenotype affecting 1 in 64,000 births. Swyer Syndrome is another condition where individuals with XY genotype have female genitalia, but lack ovaries, leading to infertility due to underdeveloped gonads (2). Patients with 5-alpha reductase enzyme deficiency may have ambiguous genitalia due to their inability to produce active testosterone, dihydrotestosterone (DHT), crucial for male external genitalia development (3). The SRY gene on one of the XX chromosomes is found in 1/20000 males with 10% being fertile due to SRY gene translocation during mioses (4). Another group of sex-reversed patients have XY chromosomes and 20% have a loss-of-function mutation in the SRY gene (5).

Gender identity is not solely determined by karyotype, but also by a combination of biological, psychological, and social factors. Hormones regulate external genitalia and secondary sexual characteristics. The binary idea of male and female, based on genomic makeup and phenotype, has shaped society’s conception of sex and gender, but does not fully consider human diversity.

The body and psyche manifestations of gender reassignment can differ from expectations, requiring the involvement of relevant specialists to ensure the best interest of the child’s future. Exclusion of plastic surgeons from section-making can lead to false hopes. From social acceptance and integration, which is crucial in our tight-knit communities to psychosocial well-being, it is important to avoid stigmatization and isolation promoting a sense of normalcy and security. Therefore, all children with the slightest ambiguity of genitalia should be discussed in an MDT and a plastic surgeon is one of the crucial members of the team.