Society For Pediatric Urology

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Team DSD Management: Balancing Patient Self-Determination with Parental Preferences
David Diamond, MD, Yee-Ming Chan, MD, PhD, Jonathan Swartz, MD, MMSc, Amy Tishelman, PhD, Judith Johnson, JD.
Boston Children's Hospital, Boston, MA, USA.

Team DSD Management: Balancing Patient Self-Determination with Parental Preferences
David A. Diamond, MD, Yee-Ming Chan, MD, PhD, Jonathan Swartz, MD, MMSc, Amy Tishelman, PhD & Judith Johnson, JD
A central ethical dilemma in management of the patient with a disorder of sex development (DSD) is the potential conflict between respect for the fundamental right of the child for physical and emotional integrity and self-determination and the right of parents to serve as surrogate decision-makers and act in their child's best interest. Often decisions must be made based on incomplete information before it is possible to ascertain the child's self-identified gender.
Over the past 2 years we have encountered 3 complex DSD cases on the spectrum of mixed gonadal dysgenesis to ovotesticular DSD in which gender assignment and therefore optimal surgical management was uncertain. All patients had mosaic karyotypes with Y chromosome, dysgenetic ovary and dysgenetic testis, a urogenital sinus and prominent phallus (table 1). In all 3 cases a team (Endocrinology, Urology, Psychology, Ethics) approach was taken to assess functional potential and risks along either gender pathway and to develop a spectrum of treatment options for parental consideration, including:
Masculinization with removal of dysgenetic ovary
Initial vaginoplasty but with retention of the phallus (+/- bilateral gonadectomy)
Initial vaginoplasty with "burial" of corporal bodies (Pippi Salle procedure) (+/- bilateral gonadectomy)
Full feminization: vaginoplasty and clitoroplasty (with bilateral gonadectomy)
No surgical intervention
In all 3 cases, after consideration of risks and benefits (table 2) of all options, parents selected option 2: gonadectomy to eliminate tumor risk and vaginoplasty, taking advantage of the child's young age to exteriorize urinary and reproductive tracts to avoid incontinence and infection and supporting parental bias toward female gender, but preservation of phallic structures to insure a male option should the patient later declare a male gender identity.
Parents of the three patients were contacted post-operatively (at 7, 17 and 22 months) for follow-up. All (3/3) regarded their child's development and wellbeing positively, and their own decisions regarding gender assignment and surgical plan favorably. All (3/3) regarded the team advisory process as balanced and supportive.
In the setting of exposure of the neonatal brain to testosterone, vaginoplasty and phallic preservation afforded a balance between parental preferences and preservation of anatomic options, allowing potential reconstruction of male or female phenotype as gender identity is ascertained thereby respecting both parent and patient rights. Parents valued a spectrum of options, transparency and the team decision making process.
Table 1

Karyotype45,X/ 46,XY/47,XYY46XX/47XXY45,X/46,XY
GonadsL Dysgenetic Testis
R Dysgenetic Ovary
L Dysgenetic Testis
R Dysgenetic Ovary
L Dysgenetic Ovary
R Dysgenetic Testis
Ductal StructuresUterus
R Fallopian Tube
L Fallopian Tube
UG SinusMid ConfluenceLow ConfluenceLow Confluence
Phallus4 x 1.5 cm2.7 x 1.3 cm3 x 1 cm
Gender AssignmentFemaleNeutralFemale

Table 2
Preserve Patient OptionsRespect Parental WishesTechnical Considerations, Surgical TimingEstablished Outcomes
1) Full Masculinization--++
2) Vaginoplasty; Preserve Phallus++++/-
3) Vaginoplasty
Buried Phalloplasty
4) Full Feminization-+++
5) No Surgery++/---

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