Growth hormone, suspected gonadotrophin deficiency, and ring 18 chromosome.
A boy with a ring 18 chromosome karyotype was referred because of short stature; he had growth hormone deficiency and possible hypogonadotrophic hypogonadism. Many children with major chromosomal abnormalities are short, but this case emphasises the need to consider growth hormone deficiency in addition.
Abusrewil
S S
SS
Bristol Children's Hospital.
McDermott
A
A
Savage
D C
DC
D002675:Child, Preschool; D002869:Chromosome Aberrations; D002887:Chromosomes, Human, Pair 18; D006062:Gonadotropins / Q000172:deficiency*; D006130:Growth Disorders / Q000209:etiology / Q000235:genetics; D013006:Growth Hormone / Q000172:deficiency*; D006801:Humans; D008297:Male; D012303:Ring Chromosomes
D006062:Gonadotropins; D013006:Growth Hormone