title: Growth hormone deficiency and premature thelarche in a female infant with kabuki makeup syndrome.
abstract: We report on a girl with the kabuki makeup syndrome, including short stature, premature thelarche and partial growth hormone deficiency of hypothalamic origin, without stalk interruption. Treatment with recombinant human growth hormone resulted in an increase of annualized growth velocity from 3.6 to 11.2 cm. The kabuki makeup syndrome may be associated with hypothalamopituitary dysfunction.
authors.affiliation: Department of Pediatrics, University of Leuven Belgium.
authors.forename: K
authors.initials: K
authors.lastname: Devriendt
authors.forename: L
authors.initials: L
authors.lastname: Lemli
authors.forename: M
authors.initials: M
authors.lastname: Craen
authors.forename: F
authors.initials: F
authors.lastname: de Zegher
mesh_terms: D000015:Abnormalities, Multiple; D001940:Breast / Q000254:growth & development*; D005260:Female; D013006:Growth Hormone / Q000172:deficiency* / Q000627:therapeutic use; D006801:Humans; D007027:Hypothalamic Diseases / Q000150:complications*; D007231:Infant, Newborn; D010900:Pituitary Diseases / Q000150:complications*; D011994:Recombinant Proteins / Q000627:therapeutic use; D013577:Syndrome
chemical_list: D011994:Recombinant Proteins; D013006:Growth Hormone