Juberg-Marsidi syndrome: report of an additional case.
We report on a 2-year-old boy with Juberg-Marsidi syndrome. He has mental retardation, short stature, micropenis, cryptorchidism, and minor facial abnormalities. His Leydig cells responded to the administration of human chorionic gonadotropin and there were positive responses of LH and FSH to the administration of LH-RH. He showed normal weight gain and head circumference which have not been described previously. The association of Juberg-Marsidi syndrome with HbH disease was ruled out in the propositus.
Department of Pediatrics, Yamaguchi University School of Medicine, Ube, Japan.
M
M
Tsukahara
T
T
Nasu
H
H
Takihara
Y
Y
Hattori
H
H
Nakane
K
K
Kamata
H
H
Mitsui
S
S
Hayashida
D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D006063:Chorionic Gonadotropin / Q000627:therapeutic use; D003456:Cryptorchidism / Q000235:genetics; D003638:Deafness / Q000235:genetics*; D004392:Dwarfism / Q000235:genetics*; D005640:Follicle Stimulating Hormone / Q000627:therapeutic use; D006801:Humans; D007006:Hypogonadism / Q000188:drug therapy / Q000235:genetics*; D008607:Intellectual Disability / Q000235:genetics*; D007986:Luteinizing Hormone / Q000627:therapeutic use; D008297:Male; D010413:Penis / Q000002:abnormalities*; D013577:Syndrome; D014960:X Chromosome
D006063:Chorionic Gonadotropin; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone