Prader-Willi syndrome associated with chromosomal aberration : report of a case
A male case of Prader-Willi syndrome (2.8 years in age) with an interstitial deletion of a chromosome affecting 15q 11-12 region is reported. The chief complaints were hypoplastic scrotum and defect of bilateral scrotal content. The clinical features were short stature, obesity, delayed mental devel...
| Veröffentlicht in: | Hinyokika kiyo. Acta urologica Japonica. - 1962. - 38(1992), 9 vom: 14. Sept., Seite 1079-82 |
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| Weitere Verfasser: | , , , , |
| Format: | Aufsatz |
| Sprache: | Japanese |
| Veröffentlicht: |
1992
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| Zugriff auf das übergeordnete Werk: | Hinyokika kiyo. Acta urologica Japonica |
| Schlagworte: | Case Reports English Abstract Journal Article |
| Zusammenfassung: | A male case of Prader-Willi syndrome (2.8 years in age) with an interstitial deletion of a chromosome affecting 15q 11-12 region is reported. The chief complaints were hypoplastic scrotum and defect of bilateral scrotal content. The clinical features were short stature, obesity, delayed mental development, bilateral cryptorchidism, hypogenitalism, hypopigmentation, and bilateral moderate vesicoureteral reflux with a history of muscular hypotonia. Bilateral orchidopexy was done. Endocrinologically both base values of luteinizing hormone (LH) and follicle stimulating hormone (FSH) were normal although LH reserve function was impaired on gonadotropin releasing hormone (GnRH) test. Testosterone response was normal by the stimulation of human chorionic gonadotropin. An interstitial deletion of proximal 15q, and pituitary-gonadal axis in Prader-Willi syndrome are discussed in relation to the clinical features and therapy |
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| Beschreibung: | Date Completed 25.11.1992 Date Revised 15.11.2006 published: Print Citation Status MEDLINE |
| ISSN: | 0018-1994 |