title: An unusual combination of Klinefelter syndrome and growth hormone deficiency in a prepubertal child.
abstract: Klinefelter syndrome (KS) is the most common chromosomal aneuploidy in males. It is very difficult to diagnose this disorder in childhood due to absence of significant manifestations before puberty. These patients usually present with tall stature. We report a case of KS with short stature due to growth hormone deficiency. The boy's height was below the 3rd centile with significant delay in bone age. He responded well to growth hormone injections. In view of mental subnormality karyotyping was done, which revealed KS (47XXY).
authors.affiliation: Osmania Medical College and General Hospital, Endocrinology, Hyderabad, India. E-ma-il: drvsrm@gmail.com.
authors.forename: Jayanthy
authors.initials: J
authors.lastname: Ramesh
authors.forename: Mudiganti
authors.initials: M
authors.lastname: Nagasatyavani
authors.forename: Javvadii
authors.initials: J
authors.lastname: Venkateswarlu
authors.forename: Jakka
authors.initials: J
authors.lastname: Nagender
mesh_terms: D001827:Body Height; D002675:Child, Preschool; D020022:Genetic Predisposition to Disease; D006130:Growth Disorders / Q000097:blood / Q000175:diagnosis / Q000209:etiology*; D020249:Hormone Replacement Therapy; D019382:Human Growth Hormone / Q000008:administration & dosage / Q000097:blood / Q000172:deficiency*; D006801:Humans; D007279:Injections, Subcutaneous; D007621:Karyotyping; D007713:Klinefelter Syndrome / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D008297:Male; D010641:Phenotype; D016896:Treatment Outcome
chemical_list: D019382:Human Growth Hormone