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PREVIOUSLY UNDESCRIBED INTRAVAGINAL STRUCTURE CONSISTENTLY
ASSOCIATED WITH LATERALITY OF DYSGENETIC TESTIS IN PATIENTS WITH
DISORDERS OF SEX DEVELOPMENT
Moira DWYER
1
, Pankaj DANGLE
1
, Selma WITCHEL
2
, Svetlana YATSENKO
3
, Miguel REYES-MUGICA
4
and Francis
SCHNECK
1
1) Children's Hospital of Pittsburgh of the University of Pittsburgh Medical Center, Urology, Pittsburgh, USA - 2)
Children's Hospital of Pittsburgh of the University of Pittsburgh Medical Center, Endocrinology, Pittsburgh, USA - 3)
Magee-Women's Hospital of the University of Pittsburgh Medical Center, Cytogenetics, Pittsburgh, USA - 4) Children's
Hospital of Pittsburgh of the University of Pittsburgh Medical Center, Pathology, Pittsburgh, USA
PURPOSE
Cystourethroscopic evaluation in pediatric patients with disorders of sex development (DSD) is a safe and effective
method to assess the urogenital tract. Nevertheless, vaginal anatomy has not been shown to be a consistently reliable,
predictive indicator of gonadal pathology. We report a series of DSD patients who have had endoscopic identification of
grossly similar and previously undescribed intravaginal structures associated with specific gonadal pathology.
MATERIAL AND METHODS
Retrospective review of the our institutional DSD database (2000-present) identified 55 patients who met inclusion
criteria. The same surgeon had performed urogenital endoscopy in the index study patients, who underwent
endocrine evaluation, pelvic imaging, and microarray analysis.
RESULTS
Endoscopic evaluation was performed in 25/55 (45%) DSD patients and revealed 9 vaginal ridges in 6 female patients
(6/25, 24%). Four of these six had undergone bilateral gonadal biopsy and/or gonadectomies, and all four were found to
have a dysgenetic testis (4/4, 100%). Moreover, the laterality of the vaginal ridge and the laterality of the dysgenetic
testis were consistently associated (5/5, 100%). The absence of a dysgenetic testis corresponded with the absence of a
vaginal ridge in the 8 remaining females who underwent both endoscopy and bilateral gonadal biopsies and/or
gonadectomies (8/8, 100%). One male with mixed gonadal dysgenesis had a pathologic cystic prostatic utricle.
CONCLUSIONS
We have identified grossly similar, heretofore undescribed vaginal ridges in six patients with DSD and have noted a
consistent association between the presence of a vaginal ridge and a dysgenetic testis of identical laterality. Therefore,
our current hypothesis is that the embryologic origin of the vaginal ridge is Wolffian. Evaluation of additional cases
will be necessary to determine whether this association is consistently noted in female DSD patients with a dysgenetic
testis.