[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 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.
Department of Urology, Hyogo College of Medicine.
K
K
Kokura
H
H
Shima
Y
Y
Mori
F
F
Ikoma
H
H
Sakamoto
J
J
Furuyama
D002675:Child, Preschool; D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15; D003456:Cryptorchidism / Q000235:genetics / Q000601:surgery; D006801:Humans; D008297:Male; D011218:Prader-Willi Syndrome / Q000235:genetics*