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One-Stop Care for Children With Sex Differentiation Conditions

Treating sex differences in children requires specialized care in multiple areas. In addition to addressing structural differences, physicians need to prepare parents for hormonal changes that may or may not occur as children grow and develop, as well as the psychological and emotional toll of navigating a rare disease that may be genetic.

Depending how you define “sex differences,” studies suggest that for every 1,500 to 2,000 babies born, one is born with atypical genitalia. However, experts believe the number of children born with subtler variations of sexual anatomy is much higher, and some of these changes may not appear until later in life. 

“Caring for patients with sex differences requires a multidisciplinary team of professionals working together to achieve the best outcomes,” said Paul J. Kokorowski, MD, a pediatric urologist with Cedars-Sinai Guerin Children’s. “At the Integrated Pediatric Endocrine and Genitourinary Clinic at Cedars-Sinai Guerin Children’s, patients and their parents see multiple specialists at one time. Together, those professionals devise a treatment plan that addresses the whole child, not just one aspect of their condition.”

What Are Sex Differences?

Sex differences are difficult to define, and not everyone agrees on what counts as “sex differences.” In general, sex differentiation refers to the way children’s bodies develop in terms of reproduction. It also encompasses the development of external features typically recognized as male or female.

Differences of sex differentiation is an umbrella term used to describe situations where a child is born with anatomy or other sex characteristics that don’t fit squarely in the boxes of “male” or “female.” This naturally occurring variation in biology includes several categories:

  • Genitals or internal organs that fall outside male/female categories
  • Combinations of chromosomal differences (e.g., XXY)
  • External genitalia that fall into typical male/female categories, but internal organs and hormones that don’t match

Regardless of the specific atypia, babies born with genital, chromosomal or structural differences often consult with a specialist shortly after birth. While sex differences typically emerge during the first several months of life, some less obvious differences may not be recognized until puberty, or even later. Some individuals will ultimately consider themselves to be “intersex” rather than identifying as strictly male or female. At Guerin Children’s, our physicians specialize in the evaluation of children with a full range of sex differences, no matter when they emerge, and our world-renowned adult specialists will help transition care as our patients enter adulthood.

A Multidisciplinary Approach to Optimal Care

When a child is born with sex differences, pediatricians typically write multiple referrals, each with their own timeline—and many children with sex differences don’t receive timely, coordinated care as a result.

“We offer a full suite of services for children with sex differences all in one clinic,” Kokorowski said. “So instead of scheduling several appointments, separated by weeks or even months, parents can make an appointment at the combined clinic to see multiple specialists all at one time.” Specialties represented at the clinic include:

  • Urology: Urologists focus on the structural development of reproductive and urinary organs, and how the internal “plumbing” works for both males and females. They provide surgical care when there are immediate structural issues.
  • Genetics: Sexual differences often stem from genetic disease and/or conditions that lead to differences in how genitalia and urinary organs form. At Guerin Children’s, medical geneticists work with children and their family members to identify genetic anomalies that lead to atypical genitalia and reproductive organ formation.
  • Endocrinology: Children born with sexual differences often require care from an endocrinologist who understands hormones and can evaluate hormone levels in the blood—to devise hormonal treatment strategies that align with children’s unique needs.
  • Social Work: Sex differences not only affect physical development, but they also impact social and emotional health and wellbeing. At Cedars-Sinai, social workers and psychologists help patients and their parents navigate the emotional complexities inherent in sex differences.

Addressing Conditions as a Family

During the years shortly after birth, sex differences often affect parents more than children. Parents are not only first to identify the condition, but they’re also charged with making decisions on behalf of their child and working with medical professionals to chart a path forward.

“Part of treating kids with urinary and genital differences is addressing the physical and emotional health of parents,” Kokorowski said. “Instead of waiting and worrying, parents are able to access streamlined care for their child all in one place, while also ensuring their child receives the highest-quality care for every aspect of their condition.” And since physicians follow these children over time, parents have the assurance of quality care as their child grows and develops.

In addition to providing advanced treatments for patients with sex differences, physicians affiliated with the Integrated Pediatric Endocrine and Genitourinary Clinic are fostering research related to sex differences in children. “We’re actively involved in the community so we can better understand the challenges and struggles facing our patients and their parents,” Kokorowski said. “We’re not only interested in patient-centered care, but also patient-centered research.”

So instead of theorizing about what patients need, Guerin Children’s specialists ask them directly, “What would make your life easier?” “What are the challenges you’re facing?” And maybe most important, “How can we be of service?” “That’s the point where real quality care begins,” Kokorowski said.

Conditions Treated

  • Atypical genitalia
  • Ambiguous genitalia
  • Disorders of gonadal differentiation and sex chromosome differences
  • Ovotesticular DSD
  • XX DSD
  • XY DSD
  • Congenital malformation syndromes
  • Micropenis
  • Proximal hypospadias

To refer a patient, contact us at 310-423-7337 or


Davis, S. M., Kaar, J. L., Ringham, B. M., Hockett, C. W., Glueck, D. H., & Dabelea, D. (2019). Sex differences in infant body composition emerge in the first 5 months of life. Journal of pediatric endocrinology & metabolism : JPEM32(11), 1235–1239.