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When Sex Development Goes Awry: Is it a Girl, a Boy?

Pediatrician tackles scientific and cultural considerations for individuals with disorders of sex development.

When Sex Development Goes Awry: Is it a Girl, a Boy?

With the birth of a baby, the first question in the minds of the expectant parents, their family and friends, and the nursery staff is, ‘is it a boy or a girl?’ But in some cases, the answer is complicated.

Naveen Uli, MD, is a pediatric endocrinologist who studies disorders and differences of sex development (DSD). Uli’s research focuses on understanding the varied causes of DSD, and how best to care for patients of atypical sex. The field is growing, and DSD now encompasses many genetic, developmental, and hormonal conditions that can be diagnosed any time from womb to adulthood. As Uli explained, “these conditions have wide ranging implications on health, behavior, psychosocial function, family dynamics, and society as a whole.”

Individuals with DSD may be born with ambiguous genitalia, or have sex chromosomes that don’t match their outward features. This could be because a gonad—that normally develops into an ovary or testicle—developed abnormally in response to hormone or genetic imbalances. Though many expectant parents don’t think about it, DSD occurs in approximately 1 out of every 4,500 to 5,000 births. Uli helps families in his clinic navigate DSD diagnoses and the cascade of questions that follow.

Take for example a baby girl born with normal outer genitalia. She has no family history of DSD and is growing well, within the healthy ranges for height and weight. At a year and a half old, she requires hernia repair. The surgery reveals internal testicular tissue. Enter Uli, who uses genetic testing and ultrasound to reveal the baby girl has a chromosomal DSD and no uterus or ovaries. Although such a diagnosis can be shocking, Uli helps the family develop a plan to continue raising their daughter female. It includes surgery to remove the inactive, internal male gonads, and supplemental hormones later in life to induce puberty.

Other DSD cases are easier to recognize. But, they too require careful testing to inform treatment plans. Uli remembers a case of a baby born with partially male and female outer genitalia. The otherwise healthy baby left the hospital after birth without a gender while testing continued. When results came back, the data supported a male gender assignment. The care team worked with the family to follow up with specific hormone therapy and reparative surgery before his first birthday. These cases and others were included in a recent review article by Uli entitled “Challenges in the diagnosis and management of disorders of sex development” to help guide families and care teams.

Uli regularly collaborates with professionals across the hospital to develop tailored DSD care plans of the most intimate nature. Each situation carries unique cultural and medical considerations. Uli emphasizes empathetic listening and team approaches are paramount. “It is important to set a positive, respectful, and optimistic tone at the initial encounter with the family of the affected baby. They may already have information or expectations, based on prenatal ultrasound or other diagnostic evaluations. The birth of a baby that does not conform to those expectations would be expected to result in anxiety, confusion, and emotional distress in the parents,” Uli writes in his review. “Parents need to be engaged in the shared decision-making process.”

Uli’s recent review article is one of seven in a special DSD edition of Birth Defects Research Part C: Embryo Today. Uli teamed up with Michiko Watanabe, PhD, Professor of Pediatrics in the School of Medicine, as editors for the issue that covers everything from sex-specific effects of pollution to sociocultural implications of DSD. The pair brought together 36 DSD researchers from around the world to bring readers up to date on the latest DSD research, and to raise the profile of DSD. “Our aim was to provide an overview of the complexity of the medical decisions, investigations, and treatment approaches involved in the diagnosis and management of this spectrum of disorders,” Uli said. “My hope is that the broad scope of articles in this special issue will provide a frame of reference to the reader, which should serve as a good starting point for further exploration.”


Photo by kristin_a/CC BY 2.0

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