702 CLINICAL FEATURES AND TESTICULAR MORPHOLOGY IN INFANTILE PATIENTS WITH KALLMANN SYNDROME

Abstract

You have accessJournal of UrologyPenis/Testis/Urethra: Benign & Malignant Disaese (I)1 Apr 2013702 CLINICAL FEATURES AND TESTICULAR MORPHOLOGY IN INFANTILE PATIENTS WITH KALLMANN SYNDROME Hidenori Nishio, Kentaro Mizuno, Satoshi Kurokawa, Hideyuki Kamisawa, Makoto Imura, Yoshinobu Moritoki, Yasuhiro Shibata, Akihiro Nakane, Toshiki Kato, Tetsuji Maruyama, Yoshiyuki Kojima, Yutaro Hayashi, and Kenjiro Kohri Hidenori NishioHidenori Nishio Nagoya, Japan More articles by this author , Kentaro MizunoKentaro Mizuno Nagoya, Japan More articles by this author , Satoshi KurokawaSatoshi Kurokawa Nagoya, Japan More articles by this author , Hideyuki KamisawaHideyuki Kamisawa Nagoya, Japan More articles by this author , Makoto ImuraMakoto Imura Nagoya, Japan More articles by this author , Yoshinobu MoritokiYoshinobu Moritoki Nagoya, Japan More articles by this author , Yasuhiro ShibataYasuhiro Shibata Nagoya, Japan More articles by this author , Akihiro NakaneAkihiro Nakane Nagoya, Japan More articles by this author , Toshiki KatoToshiki Kato Nagoya, Japan More articles by this author , Tetsuji MaruyamaTetsuji Maruyama Nagoya, Japan More articles by this author , Yoshiyuki KojimaYoshiyuki Kojima Nagoya, Japan More articles by this author , Yutaro HayashiYutaro Hayashi Nagoya, Japan More articles by this author , and Kenjiro KohriKenjiro Kohri Nagoya, Japan More articles by this author View All Author Informationhttps://doi.org/10.1016/j.juro.2013.02.260AboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookTwitterLinked InEmail INTRODUCTION AND OBJECTIVES Kallmann syndrome (KS) is a genetic disorder characterized by the simultaneous occurrence of idiopathic hypogonadotropic hypogonadism (IHH) and anosmia. Although there have been some reports about genes responsible for KS, their impact on the testicular tissue of KS during infantile periods remains unclear. We retrospectively reviewed the patients clinically diagnosed KS, and evaluated the testicular morphology of KS these patients by performing testicular biopsies during orchiopexy. METHODS A retrospective assessment was conducted of 4 cryptorchid patients diagnosed with KS. The assessment included a determination of the chief complaints of the patients upon presentation, the age at which the orchiopexy was performed, and the results of hormone tests, including tests for luteinizing hormone-releasing hormone and human chorionic gonadotropin (hCG). In addition, testicular morphology was assessed during testicular biopsy, and histrogical examinations were performed. Especially the presence of Leydig cells was examined by immunohistochemistry using antibodies against Ad4BP/SF1. RESULTS Laboratory testing showed low values of LH, FSH, and testosterone, confirming hypogonadotropic hypogonadism. LH and FSH did not increase in response to intravenous gonadotropin-releasing hormone treatment; hCG tests also failed to show changes in testosterone levels. Head magnetic resonance imaging scans failed to show evidence of pituitary tumors but showed deficiencies in the olfactory bulbs and grooves. Histologic examinations of the testes showed immature seminiferous tubules with mild interstitial fibrosis and edema; spermatogonia were not detected. Leydig cells were detectable in the testis of the interstitium and Sertoli cells in the seminiferous tubules by immunohistochemistry using antibodies against Ad4BP/SF1 in the testes of one patient. CONCLUSIONS Although the diagnosis of KS before puberty is difficult, LH-RH and hCG tests were useful for the differential diagnosis. The present study showed the presence of Leydig cells in the testis of one patient with IHH using immunohistochemistry for Ad4BP/SF1, even though Leydig cells were reportedly absent. Testicular morphology in the patients with KS is more varied than expected, and further investigations are required to elucidate the hormonal effects on normal testicular development. © 2013 by American Urological Association Education and Research, Inc.FiguresReferencesRelatedDetails Volume 189Issue 4SApril 2013Page: e289 Advertisement Copyright & Permissions© 2013 by American Urological Association Education and Research, Inc.MetricsAuthor Information Hidenori Nishio Nagoya, Japan More articles by this author Kentaro Mizuno Nagoya, Japan More articles by this author Satoshi Kurokawa Nagoya, Japan More articles by this author Hideyuki Kamisawa Nagoya, Japan More articles by this author Makoto Imura Nagoya, Japan More articles by this author Yoshinobu Moritoki Nagoya, Japan More articles by this author Yasuhiro Shibata Nagoya, Japan More articles by this author Akihiro Nakane Nagoya, Japan More articles by this author Toshiki Kato Nagoya, Japan More articles by this author Tetsuji Maruyama Nagoya, Japan More articles by this author Yoshiyuki Kojima Nagoya, Japan More articles by this author Yutaro Hayashi Nagoya, Japan More articles by this author Kenjiro Kohri Nagoya, Japan More articles by this author Expand All Advertisement Advertisement PDF DownloadLoading ...