Challenges cases: Disorders of sexual differentiation and the ethics of gender assignment

Urology-gender assignmentBoston Children’s Urologist-in-Chief and Associate Clinical Ethicist, David A. Diamond, MDshares three complex cases of ambiguous genitalia in which optimal gender assignment was unclear. These case studies discuss patient history, the process of investigation, subsequent dialogue with each family and decisions made in each case.

Children with disorders of sexual differentiation can present complicated management problems. The most challenging aspect of these cases occurs when optimal gender assignment is unclear. For some conditions, outcomes with regard to gender assignment along a male or female pathway are well established. For other conditions the outcomes are far less clear. Over the past two years, we have encountered three complex cases of ambiguous genitalia in which optimal gender assignment was unclear and a complex process of investigation of these children and a lengthy dialogue with each family was undertaken. Subsequently, a pathway was elected for each case that represented a balance between parental preference and patient self-determination.

Urology-gender assignment-graph

All three cases had common themes with regard to their presentation (table above.) All patients had a mosaic karyotype with Y-chromosomal material. Each had a dysgenetic testis and dysgenetic ovary representing a spectrum of histological abnormality. Each patient had an enlarged phallus and urogenital sinus with some mullerian structures.


With the ultrasound finding of a uterus, the mother was convinced this child was ultimately female. The first patient presented for a fourth opinion at fourteen months of age. She was assigned female gender prior to confirmation of her final diagnosis, which was mixed gonadal dysgenesis. Her serum testosterone following HCG stimulation exceeded 800 ng/dl. The involved urologist felt understandably concerned that this patient might experience hormonal brain imprinting from the elevated testosterone level in utero and postnatally. With the ultrasound finding of a uterus, the mother was convinced that this child was ultimately female. When they presented to Boston Children’s Hospital the child had a scrotal testis, which had been biopsied and brought down by orchidopexy and a remaining intra-abdominal streak gonad.


The second patient was a two-year-old child with ambiguous genitalia, and reared as female. The second patient was a two-year-old child with ambiguous genitalia, adopted from an orphanage in China where she was reared as female. The child had a right labioscrotal testis, enlarged phallus and urogenital sinus. The ultrasound demonstrated the presence of a uterus. Laparoscopy confirmed the presence of a steak gonad on the opposite side of the labioscrotal testis. Given the child’s two years of upbringing as a female, the parents were inclined to continue gender assignment along that pathway, allowing the possibility that the child may have undergone hormonal brain imprinting postnatally based on an elevated AMH level, consistent with testicular function.


This family opted to have the dysgenetic testis removed but preserved the ovary. The third patient was diagnosed with ambiguous genitalia prenatally. Postnatally the child had ambiguous genitalia with an enlarged clitoris, urogenital sinus and bilateral impalpable gonads, and a mosaic karyotype (46XX/47XXY). An ultrasound confirmed the presence of a uterus and bilateral intra-abdominal gonads. A diagnostic laparoscopy and gonadal biopsy was performed and confirmed presence of mullerian structures unilaterally associated with a very mildly dysgenetic ovary with follicles and a contralateral testicular structure that was very dysgenetic pathologically. This family opted to have the dysgenetic testis removed but preserved the ovary. The child was regarded as being on the mixed gonadal dysgenesis, ovo-testicular DSD spectrum.


Boston Children’s Disorders of Sex Development (DSD) and Gender Management Services (GeMS) Program, is dedicated to providing care and support to infants, children, adolescents and young adults with disorders of sex development (DSDs) and youth with concerns about gender identity. Founded in 2007, it is the first major program in the United States to focus on transgender children and adolescents.

Ultimately, all patients underwent vaginoplasty to exteriorize the urethra and vagina with preservation of the clitoris. Two required partial urogenital sinus mobilization and the third a Fortunoff flap vaginoplasty. The initial two families were somewhat torn about not performing a complete feminizing genitoplasty early on. They accepted the ethical argument for preservation of options for their child and to avoid burning bridges should the child assume a male identity with further development. The third family intended to remain gender neutral with regard to their child, to afford them as much freedom as possible in asserting their own gender identity.

David A. Diamond, MD

The plan for these children is for continued psychological follow up and assessment of the development of their gender identity over time. At the point at which it becomes clear that these children have female-gender identity, a clitoral recession could be readily performed. Should they clearly demonstrate male-gender identity one would have the option of a male reconstruction with preserved phallic tissue.

The long-term psychological consequences of their somewhat ambiguous appearance (because of their enlarged phallic structure), remains unknown and will also be of interest in our ongoing management.

As a management team, we felt this approach represented a balance between expressed parental preferences and self-determination of each patient in terms of final gender identity.

Learn more about the DSD/GeMS Program and Boston Children’s Department of Urology.