title: Short stature caused by isolated SHOX gene haploinsufficiency: update on the diagnosis and treatment.
abstract: Heterozygous SHOX defects are observed in about 50 to 90% of patients with Leri-Weill dyschondrosteosis (LWD), a common dominant inherited skeletal dysplasia; and in 2 to 15% of children with idiopathic short stature (ISS), indicating that SHOX defects are the most important monogenetic cause of short stature. In addition, children selected by disproportionate idiopathic short stature had a higher frequency of SHOX mutations (22%). A careful clinical evaluation of family members with short stature is recommended since it usually revealed LWD patients in families first classified as having ISS or familial short stature. SHOX-molecular analysis is indicated in families with LWD and ISS children with disproportionate short stature. Treatment with recombinant human growth hormone is considered an accepted approach to treat short stature associated with isolated SHOX defect. Here we review clinical, molecular and therapeutic aspects of SHOX haploinsufficiency.
authors.affiliation: Faculdade de Medicina da Universidade de Sao Paulo, São Paulo, SP, Brazil.
authors.forename: Alexander A L
authors.initials: AA
authors.lastname: Jorge
authors.forename: Mariana Fa
authors.initials: MF
authors.lastname: Funari
authors.forename: Mirian Y
authors.initials: MY
authors.lastname: Nishi
authors.forename: Berenice B
authors.initials: BB
authors.lastname: Mendonca
mesh_terms: D001827:Body Height / Q000235:genetics*; D006130:Growth Disorders / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D006239:Haplotypes; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D000074122:Short Stature Homeobox Protein
chemical_list: D018398:Homeodomain Proteins; C106071:SHOX protein, human; D000074122:Short Stature Homeobox Protein