Short stature in a 46,XX male adolescent.
We describe a patient with a 46,XX karyotype who was assessed because of short stature and a subnormal rate of linear growth. The patient had normal male external genitalia. Endocrinologic analysis revealed elevated levels of luteinizing hormone and follicle-stimulating hormone but an exaggerated gonadotropin response to luteinizing hormone-releasing hormone stimulation. The growth hormone response to insulin-induced hypoglycemia was also exaggerated. All sequences examined on the sex-determining region Y gene were present. The diagnosis was 46,XX male with the major manifestation of short stature.
Wu
C J
CJ
Department of Medicine, Chia-Yi Veterans Hospital, Taichung, Taiwan, ROC.
Song
Y M
YM
Sheu
W H
WH
D000293:Adolescent; D001827:Body Height / Q000235:genetics*; D006130:Growth Disorders / Q000235:genetics*; D013006:Growth Hormone / Q000097:blood; D006801:Humans; D007713:Klinefelter Syndrome; D008297:Male; D010375:Pedigree; D012729:Sex Chromosome Aberrations / Q000503:physiopathology
D013006:Growth Hormone