Summary
Introduction
Differences of sex development (DSD) are congenital conditions in which there is atypical
chromosomal, gonadal and/or phenotypic sex. A phenotype of severe genital atypia in
patients raised as male is a relatively rare occurrence and standards for management
are lacking. Decision making for early surgical planning in these rare cases includes,
but is not limited to, degree of atypia, location of testes, and presence of Mϋllerian
remnants. In this study we describe surgical approaches and short-term outcomes for
masculinizing genitoplasty in moderate to severe genital atypia in young patients
raised male, for whom parents opted for early surgery.
Methods
This NIH-sponsored study is an ongoing, observational, multicenter investigation assessing
medical, surgical and psychological outcomes in children and their parents affected
by atypical genitalia due to DSD. Participants were prospectively enrolled from 12
children's hospitals across the United States that specialize in DSD care. Criteria
for child enrollment were a Quigley score of 3–6 in those with a 46, XY or 45,X/46,
XY chromosome complement, age <3 years with no previous genitoplasty; patients were
included independent of whether genitoplasty was performed. Cosmesis was graded according
to a 4-point Likert scale and complications per the Clavian-Dindo classification.
Results
Of the 31 participants, 30 underwent hypospadias repair and 1 patient did not undergo
a genitoplasty procedure. The majority of participants (22) received a staged hypospadias
repair. Seventeen complications were identified in 12 of the 31 children (41%) at
12 months of follow up. Glans dehiscence and urethrocutaneous fistula were the most
common complications. Orchiopexy was performed in 14 (44%) and streak gonads were
removed in 4 (13%) participants. Both parents and surgeons reported improved cosmesis
after surgery when compared to baseline.
Conclusion
Graphical AbstractRiver plot comparing Likert cosmesis score over time for mothers, fathers, and surgeons.
Panel A includes all patients in the cohort.
Keywords
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Article info
Publication history
Published online: February 18, 2021
Accepted:
February 9,
2021
Received in revised form:
February 5,
2021
Received:
December 4,
2020
Identification
Copyright
© 2021 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.
