True Intersex — Male or Female?
The what and why of Swyer Syndrome
I first became interested in Swyer Syndrome many years ago in my work as a Biochemist, but at that time the emphasis and prominence of Gender and Sexual Preference was not what it was in today’s world, so the more recent case of Sara Forsberg described later in this article reminded me of earlier studies that had been carried out.
What is Intersex and Swyer Syndrome?
Intersexuality is a spectrum of conditions that challenge the traditional binary understanding of male and female, and one rare but impactful intersex condition is Swyer syndrome.
Swyer syndrome is primarily a genetic disorder caused by a malfunctioning SRY (Sex-determining Region Y) gene on the Y chromosome. The SRY gene is pivotal in initiating the development of male characteristics during embryogenesis. In individuals with Swyer syndrome, the absence or dysfunction of the SRY gene results in a failure to undergo typical male development, and this leads to the appearance of a female phenotype or appearance.
Who first described this condition?
Swyer Syndrome is named after the endocrinologist Dr. Claude M. Swyer, who first described the syndrome in the medical literature in 1955. Dr. Swyer’s work contributed to the understanding of disorders of sexual development and laid the foundation for further research into the genetic and hormonal factors involved in sex determination and differentiation.
How are people with this syndrome affected?
External Appearance: People with Swyer syndrome typically present with a female external appearance, and usually look like a woman. They will normally have female secondary sexual characteristics, such as breast development and a lack of facial and body hair. The external genitalia may appear typically female or underdeveloped.
Internal Reproductive Organs: Despite the external appearance, the internal reproductive organs are typically not fully developed. These individuals often lack functional gonads (ovaries or testes). In the case of Swyer syndrome, the gonads are often streak gonads, which are non-functional and at risk for developing tumours.
Hormonal Deficiency: Since the gonads are not fully functional, individuals with Swyer syndrome experience hormonal deficiencies. This can lead to a lack of pubertal development, including the absence of menstruation in those assigned females at birth.
Infertility: Due to the absence of functional gonads and hormonal deficiencies, individuals with Swyer syndrome are typically infertile. The lack of ovaries or testes and the associated hormonal imbalances result in challenges related to reproductive capabilities.
Genetics of Swyer Syndrome
Prevalence and Incidence: Swyer syndrome is considered a rare condition, occurring in approximately 1 in 80,000 live births. Despite its rarity, it sheds light on the complexity of sex determination and the delicate interplay of genetic factors during embryonic development.
Understanding Gender Identity: The statement that someone with a Y chromosome will always be male is a common but oversimplified perspective. As noted by Susanna Viljanen, both a functional SRY gene and functional androgen receptors are necessary for typical male development. In the absence of these conditions, the result may be an individual with female external characteristics but internal reproductive structures that do not align with conventional female development.
The Case of Sara Forsberg
The recent revelation by Finnish celebrity Sara Forsberg adds a personal dimension to the discussion of Swyer syndrome. Sara, a singer, actress, and polyglot, bravely shared her journey of living with Swyer syndrome, and her story highlights the importance of recognizing and understanding intersex variations.
Sara Forsberg’s Experience
Sara’s story provides a glimpse into the challenges faced by individuals with Swyer syndrome. She identifies as a woman, yet her condition manifested during adolescence. Sara’s experience includes the absence of puberty, the lack of reproductive organs such as a womb and ovaries, and an inability to ovulate or menstruate. Despite these challenges, Sara’s resilience and openness about her condition serve as a source of inspiration for those grappling with their own sense of identity.
Intersexuality Throughout History
Sara’s reference to the Talmud’s mention of the condition “tumtum” reflects the historical existence of intersex individuals. The acknowledgment of intersexuality throughout various cultures and time periods emphasizes that these variations are not anomalies but rather integral aspects of human diversity.
Challenges and Advocacy
Individuals with Swyer syndrome, like Sara Forsberg, often face medical, psychological, and societal challenges. Access to comprehensive healthcare, inclusive education, and societal acceptance are crucial aspects of supporting the well-being of intersex individuals. Advocacy efforts aim to raise awareness, challenge stigmas, and foster a more inclusive understanding of gender and sexuality.
Swyer syndrome provides a lens to the intricate relationship between genetics, gender identity, and the lived experiences of intersex individuals.
Sara Forsberg’s openness about her condition contributes to a broader conversation about embracing diversity and challenging binary notions of gender, and as we continue to consider the complexities of intersexuality, it is important to foster an inclusive society that recognizes and celebrates the rich tapestry of human biological and gender diversity.
References:
Hughes, I. A., Houk, C., Ahmed, S. F., & Lee, P. A. (2006). Consensus statement on management of intersex disorders. Archives of Disease in Childhood, 91(7), 554–563.
Vilain, E., & McCabe, E. R. (1998). Mammalian sex determination: from gonads to brain. Molecular Genetics and Metabolism, 65(2), 74–84.
Hughes, I. A., & Deeb, A. (2006). Androgen resistance. Best Practice & Research Clinical Endocrinology & Metabolism, 20(4), 577–598.
Viljanen, S. (Personal Communication, November 8, [Year]). [Statement on intersexuality and gender identity].
Forsberg, S. (2023, [Month Day]). “I was destined to become a boy, but God decided otherwise.” Retrieved from [URL].
HS Hyvinvointi. (2023, [Month Day]). “Sukupuoli | Kun Sara Forsberg otti rintaimplantit, harva tiesi, mistä se oikeasti johtui — Nyt hän kertoo, mitä merkitsee olla ‘geneettisesti mies’.” Retrieved from [URL].
