550 SHOULD PROXIMAL HYPOSPADIAS WITH BILATERALLY DESCENDED GONADS BE CONSIDERED A DISORDER OF SEX DEVELOPMENT (DSD)?

Abstract

You have accessJournal of UrologyPediatrics: Congenital Anomalies - Lower Urinary Tract & Genitalia1 Apr 2011550 SHOULD PROXIMAL HYPOSPADIAS WITH BILATERALLY DESCENDED GONADS BE CONSIDERED A DISORDER OF SEX DEVELOPMENT (DSD)? Rodrigo L.P. Romao, Darius J. Bagli, Armando J. Lorenzo, Walid A. Farhat, Bruno Leslie, Victor Figueroa, David Chitayat, Diane Wherrett, and Joao L. Pippi Salle Rodrigo L.P. RomaoRodrigo L.P. Romao Toronto, Canada More articles by this author , Darius J. BagliDarius J. Bagli Toronto, Canada More articles by this author , Armando J. LorenzoArmando J. Lorenzo Toronto, Canada More articles by this author , Walid A. FarhatWalid A. Farhat Toronto, Canada More articles by this author , Bruno LeslieBruno Leslie Toronto, Canada More articles by this author , Victor FigueroaVictor Figueroa Toronto, Canada More articles by this author , David ChitayatDavid Chitayat Toronto, Canada More articles by this author , Diane WherrettDiane Wherrett Toronto, Canada More articles by this author , and Joao L. Pippi SalleJoao L. Pippi Salle Toronto, Canada More articles by this author View All Author Informationhttps://doi.org/10.1016/j.juro.2011.02.1275AboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookTwitterLinked InEmail INTRODUCTION AND OBJECTIVES In 2006, the Chicago consensus on disorders of sex development proposed a new nomenclature that has been widely adopted for disorders previously referred to as “intersex”. The consensus included isolated perineal hypospadias (regardless of cryptorchidism) as one of the situations in clinical practice that would warrant a full workup for DSD (karyoptype, imaging studies, and hormone profiles). Our objective was to look at the impact of having a DSD workup on diagnosis, management or gender assignment for patients seen for isolated proximal hypospadias and bilateral fully descended gonads. METHODS Retrospective analysis of a single institution database containing 125 patients followed by a multidisciplinary DSD clinic. Inclusion criteria were: proximal hypospadias (defined as perineal or scrotal with bifid scrotum) and bilateral descended gonads (defined as 2 gonads palpable in a scrotal /topical position). Data collected included: karyotype, external genitalia appearance, presence of mullerian structures on abdominal ultrasound, gender assignment, final diagnosis and surgical treatment. RESULTS Undervirilization of the external genitalia was the referral diagnosis in 45 patients (45/125-36%). Of those, 17 (38%) met inclusion criteria. Two patients also had micropenis. Time of referral was before 1 year of age for all patients. Average stretched penile length was 2.2 ± 0.57 cm. Penoscrotal transposition was present in 6 (35%) patients. Karyotype was 46 XY in all of them. Abdominal ultrasound performed in 14 patients failed to show any mullerian structures in the pelvis. Laboratory profile was consistent with partial androgen insensitivity syndrome (PAIS) in all but one patient, who was diagnosed with salt-wasting congenital adrenal hyperplasia (CAH). Surgical treatment consisted of only hypospadias repair with correction of penoscrotal transposition when indicated for the entire study population. CONCLUSIONS Based on our data, isolated proximal hypospadias with bilateral descended gonads might not warrant a full workup for DSD. In the study population, all patients had a normal male karyotype and no mullerian structures were identified. Gender assignment was uniformly male and surgical management was not affected by diagnostic tests. Refining the indications for DSD workup could potentially avoid the stress and stigma imposed to patients and families by the label of “ambiguous genitalia”. © 2011 by American Urological Association Education and Research, Inc.FiguresReferencesRelatedDetails Volume 185Issue 4SApril 2011Page: e223 Advertisement Copyright & Permissions© 2011 by American Urological Association Education and Research, Inc.MetricsAuthor Information Rodrigo L.P. Romao Toronto, Canada More articles by this author Darius J. Bagli Toronto, Canada More articles by this author Armando J. Lorenzo Toronto, Canada More articles by this author Walid A. Farhat Toronto, Canada More articles by this author Bruno Leslie Toronto, Canada More articles by this author Victor Figueroa Toronto, Canada More articles by this author David Chitayat Toronto, Canada More articles by this author Diane Wherrett Toronto, Canada More articles by this author Joao L. Pippi Salle Toronto, Canada More articles by this author Expand All Advertisement Advertisement PDF downloadLoading ...