When sex isn’t binary 

By Calvin Schuster, medical student, Helene Hedian, MD, and David Cooke, MD, Johns Hopkins Medicine 

Sam’s story 

Elle and Michael were excited after the genetic screening blood test revealed their baby was a boy who, in about seven months, would join their family. They were therefore surprised after a prenatal ultrasound—when they were told they would actually be having a girl.   

The discrepancy was explained by a suspected twin gestation with a male and female fetus and subsequent loss of the male fetus. The parents accepted this explanation and were excited to give their two daughters another sister; they chose the name Samantha for the baby. Just shy of the due date, a healthy baby was born. Shortly after, however, the parents were told the baby had ambiguous genitalia and testing was needed to determine the sex.   

Elle and Michael left the hospital with their beautiful baby but without a birth certificate, since there wasn’t yet a sex to enter on the form. They decided to name the baby Sam. Although a lot of genetic and hormonal testing was done in those first months of life, no explanation was found for why Sam’s external genitalia didn’t appear typically male or typically female. After a thoughtful discussion with their healthcare team, parents and providers agreed that the best next step for the baby was to raise them in a gender-neutral way. This would give the child the space to experience life, share their gender for themself when ready, and decide to pursue reconstructive surgery—or not—once they could be part of the decision-making process. 

In the past, this infant would have likely received an assignment of male or female, alongside a recommendation for reconstructive genital surgery to more closely fit that assignment. Yet in recent years, medical experts and intersex* community advocates have called this practice into question. 

Sex, gender, and nuance 

In medicine, we frequently navigate nuances and gray zones. Yet, as a society we’re prone to oversimplification when it comes to sex. Differences of Sexual Development (DSD) is a broad medical term that includes many conditions where a person’s sex chromosomes or phenotypical sex (including genitalia, gonads, hormones, and chromosomes) don’t fit into typical definitions of male and female. DSD conditions include: 

1. Complete and partial androgen insensitivity syndrome (CAIS, PAIS) 

2. Congenital adrenal hyperplasia 

3. 5α-reductase deficiency 

4. Ovotesticular syndrome 

5. Gonadal dysgenesis, and more 

Treating sex assignment as an exclusively binary construct isn’t only medically inaccurate, but also potentially harmful to people who are intersex. At a time when public debates around sex and gender are more politicized and polarized than ever, the importance of supporting intersex patients has never been greater. While these debates are often waged with the intention of targeting the transgender community, the impact of socially and politically defining sex as binary will be far-reaching, including threatening the bodily autonomy and right to self-identification of intersex people. 

Learning from the intersex community 

Intersex advocacy groups often have a mission to empower and advocate for people with sex characteristic variations. Many have identified the need for hospital policies that ensure intersex people will receive appropriate, sensitive, and nondiscriminatory care. As one care guide states, “The main issue raised by members of the intersex community is the continued performance of medically unnecessary genital-normalizing surgery on intersex infants before they are old enough to participate in the decision-making process.”

Autonomy is foundational to the principles of biomedical ethics, yet for many reasons parents of intersex children have historically felt pressure to opt for genital reconstruction before their children are able to communicate their own wishes. In Sam’s case, avoiding this meant finding a solution rooted in current best practices, informed by intersex community voices, and centered on the needs of the patient and family. 

Learning from the transgender community 

This story also highlights what we can learn from our nonbinary and transgender patients. It’s well-established that familial support has a protective effect on transgender youth, improving quality of life outcomes and reducing distress and harm. Exceptional care for our intersex patients includes encouraging parents and family members to love their children unconditionally—listening to their children to envision what support looks like, together. 

Practicing exceptional care 

To be an advocate for your patients, spend time learning about differences of sexual development and the intersex community: 

1. Learn how both sex and gender can present in a diverse and nuanced way. 

2. Learn the history of the medical treatment of intersex people to understand why some intersex adults may not immediately trust healthcare providers. 

3. Speak about sex characteristics in a way that destigmatizes and normalizes variations in sex presentation. 

4. Uplift intersex voices and participate in advocacy. 

5. Be prepared to advise families on how they can support their intersex loved ones: unconditional love, open listening, and continuous learning are great ways to advocate for positive, healthy lives for everyone. 

 Notes on language 

*Many organizations that advocate for the rights and well-being of individuals with Differences of Sexual Development (DSD) use the term “intersex.” In general, while DSD refers to a clinical framework for offering diagnosis and treatment when needed, the term intersex is often used when speaking about identity, advocacy, and empowerment, as intersex community members organize to promote the normalization of physical characteristics that don’t fit into a sex binary. For the purposes of this article, we will use the term intersex, but not all people with DSD will use the term “intersex” to describe themselves, and not all intersex people will use the phrase DSD. It’s important to ask patients what language they use for themselves, and to reflect that language when referring to them. 

This piece expresses the views solely of the author. It does not necessarily represent the views of any organization, including Johns Hopkins Medicine.