How Is the Initial Sex of Rearing Chosen in 46,XY DSD?

When a newborn is diagnosed with a 46,XY difference of sex development (DSD), the medical team does not rely solely on chromosomes or genital appearance to recommend raising the child as a boy or a girl. Instead, choosing the initial sex of rearing (how the child is raised) is a highly individualized, multidisciplinary decision ^[1].

A specialized care team—including pediatric endocrinologists, geneticists, urologists, and psychologists—works closely with parents. It is important to understand that while doctors and parents choose an initial sex of rearing, they cannot assign or predict a child’s future gender identity (the person’s own internal sense of their gender) ^[2]. A later change in gender identity is not a medical complication or a failure, but rather a reflection of the child’s natural development ^[3].

Medical Safety First

Before deciding on sex of rearing, the immediate priority is ensuring the baby is physically healthy. The team will run tests to rule out life-threatening conditions, such as salt-wasting disorders or adrenal insufficiency, which require urgent medical treatment ^[1]. Once the baby’s immediate health is stable, the team will work with you to understand the specific diagnosis.

The Role of the Specific Diagnosis

Identifying the exact genetic and biochemical cause of the DSD is a critical step ^[4]. Different genetic variations affect how the body produces and responds to androgens (hormones, like testosterone, that drive male physical traits).

For example, conditions like 5-alpha reductase type 2 deficiency (5ARD) and 17-beta hydroxysteroid dehydrogenase type 3 deficiency (17BHSD3) involve specific enzyme differences that affect testosterone processing ^[5]. While some older studies note that some individuals with these diagnoses who were raised female later identified as male, these statistics come from small, historical groups of patients across different cultures ^[6][7]. A genetic diagnosis provides important clues about how the child’s body might develop, but it cannot reliably predict an individual child’s future gender identity ^[8].

Key Factors Weighed by the Care Team

When discussing the initial plan for sex of rearing, the team evaluates several overlapping factors:

• Expected Puberty and Hormone Needs: The team projects what changes the child’s body will naturally undergo ^[9]. For instance, children with 5ARD or 17BHSD3 often experience spontaneous virilization (masculinization, such as voice deepening and muscle growth) at puberty ^[10]. Understanding this helps parents anticipate future needs. Depending on whether internal reproductive organs are retained or removed, and how they function, the child may need hormone replacement therapy (testosterone or estrogen) for bone and general health regardless of the chosen sex of rearing ^[9].
• Prenatal Androgen Exposure: The medical team may discuss the estimated degree to which the baby’s brain and body were exposed to androgens in the womb. While historical research sometimes attempts to link this exposure to later behavior or identity, this exposure is usually inferred rather than directly measured, and evidence is mixed ^[2]. The care team considers it, but prenatal hormone exposure is not a dependable test and cannot reliably predict an individual child’s future gender identity ^[3].
• Fertility Potential: Preserving the potential to have biological children is a consideration, though fertility is often limited in 46,XY DSD ^[11]. Depending on the diagnosis, retaining testicles might allow for future fertility using assisted reproduction, though sperm production is frequently impaired ^[9]. Fertility potential is a separate medical issue from sex of rearing.
• Gonadal Management and Tumor Risk: Streak gonads (incompletely developed reproductive organs) that contain Y-chromosome material can sometimes carry a higher risk of developing germ-cell tumors (a type of abnormal cellular growth) ^[12]. Gonadal management—whether to remove, closely monitor, or surgically reposition the gonads—is based on cancer risk, hormone function, and future fertility ^[13][14]. Removing gonads creates a lifelong need for hormone replacement therapy.

Navigating Uncertainty and Deferring Surgery

Predicting a child’s future gender identity is incredibly difficult ^[15]. Because of this uncertainty, modern medical guidance supports deferring non-urgent, non-medically necessary genital surgeries ^[15][13].

Some surgical interventions may be medically necessary right away—for example, to treat urinary blockages, prevent recurrent infections, or manage pain ^[13]. However, delaying surgeries that are solely for cosmetic appearance leaves options open. This approach preserves the child’s bodily autonomy, allowing them to participate in shared decision-making regarding their own body and identity as they grow older ^[15].

Glossary of Terms

• 46,XY DSD: A broad medical term for conditions where a person has typical male chromosomes (XY) but their reproductive organs or genital development differ from typical male development.
• Androgens: Hormones, like testosterone, that drive male physical traits.
• Sex of Rearing: The social sex (boy or girl) a child is raised and presented as.
• Gender Identity: A person’s deeply felt, internal sense of being male, female, or another gender.
• Virilization: The physical development of male characteristics, such as body hair or a deeper voice.
• Streak Gonads: Incompletely formed reproductive tissue that usually does not produce typical hormones or fertility cells.