Height gains in response to growth hormone treatment to final height are similar in patients with SHOX deficiency and Turner syndrome.
BACKGROUND
Patients with mutations or deletions of the Short Stature Homeobox-containing(SHOX) gene have variable degrees of growth impairment, with or without mesomelic skeletal dysplasia. If untreated, short patients with SHOX deficiency remain short in adulthood. Growth hormone (GH) treatment improves short-term linear growth; however, there are no data on GH treatment effects on final height.


METHODS
In a retrospective study, we assessed the relative effects of GH on final height gain in patients with SHOX deficiency (n = 14; 12 females) and Turner syndrome (TS) (n = 158). Patients were included if they fulfilled the following criteria: genetically-confirmed SHOX deficiency or TS, baseline height SDS <1.5, GH treatment started at Tanner stage < or =2, duration of GH treatment >2 years, and final height attained.


RESULTS
Both groups of patients were short at baseline (height SDS [mean +/- SD]: SHOX deficiency, -3.3 +/- 0.9; TS, -2.9 +/- 0.8). Height SDS gain from baseline to final height was significant for each patient group (SHOX deficiency, 1.1 +/- 0.7; TS, 1.2 +/- 0.8; p < 0.001); however, it was not significantly different between groups (p = 0.708).


CONCLUSIONS
Patients with SHOX deficiency receive similar final height benefit from GH treatment to those with TS.
Blum
Werner F
WF
Lilly Research Laboratories, Eli Lilly & Co., Bad Homburg, Germany. blum_werner@lilly.com
Cao
Dachuang
D
Hesse
Volker
V
Fricke-Otto
Susanne
S
Ross
Judith L
JL
Jones
Christine
C
Quigley
Charmian A
CA
Binder
Gerhard
G
D000293:Adolescent; D041923:Adolescent Development / Q000187:drug effects; D000365:Age Determination by Skeleton; D001827:Body Height / Q000187:drug effects*; D002648:Child; D002657:Child Development / Q000187:drug effects; D005260:Female; D006130:Growth Disorders / Q000150:complications / Q000188:drug therapy* / Q000235:genetics* / Q000503:physiopathology; D018398:Homeodomain Proteins / Q000235:genetics*; D019382:Human Growth Hormone / Q000627:therapeutic use*; D006801:Humans; D008297:Male; D009634:Noonan Syndrome / Q000150:complications / Q000188:drug therapy / Q000235:genetics; D012189:Retrospective Studies; D000074122:Short Stature Homeobox Protein; D014424:Turner Syndrome / Q000150:complications* / Q000188:drug therapy / Q000235:genetics
D018398:Homeodomain Proteins; C106071:SHOX protein, human; D000074122:Short Stature Homeobox Protein; D019382:Human Growth Hormone