Effectiveness of the combined recombinant human growth hormone and gonadotropin-releasing hormone analog therapy in pubertal patients with short stature due to SHOX deficiency.

ABSTRACT:

Context

Isolated heterozygous SHOX defects are the most frequent monogenic cause of short stature, and combined therapy with recombinant human GH (rhGH) and GnRH analog (GnRHa) in pubertal patients has been suggested, but there are no data on final height.

Objective

The aim of the study was to analyze adult height after rhGH and GnRHa therapy in patients with SHOX haploinsufficiency.

Patients

Ten peripubertal patients with isolated SHOX defects participated in the study.

Intervention

Five patients were followed without treatment, and five were treated with rhGH (50 mug/kg/d) and depot leuprolide acetate (3.75 mg/month).

Main outcome measures

Adult height sd score (SDS) was measured.

Results

All patients followed without treatment had marked downwa

SUBMITTER: Scalco RC 

PROVIDER: S-EPMC2805492 | biostudies-literature | 2010 Jan

REPOSITORIES: biostudies-literature