title: [Short stature caused by SHOX gene haploinsufficiency: from diagnosis to treatment].
abstract: Studies involving patients with short stature and partial deletion of sex chromosomes identified SHOX gene in the pseudoautosomal region of the X and Y chromosomes. SHOX haploinsufficiency is an important cause of short stature in a diversity of clinical conditions. It explains 2/3 of short stature observed in Turner syndrome (TS) patients. Heterozygous mutations in SHOX are observed in 77% of patients with Leri-Weill dyschondrosteosis, a common dominant inherited skeletal dysplasia and in 3% of children with idiopathic short stature, indicating that SHOX defects are the most frequent monogenetic cause of short stature. The sitting height/height ratio (SH/H) standard deviation score is a simple way to assess body proportions and together with a careful exam of other family members, effectively selected a group of patients that presented a high frequency of SHOX mutations. Growth hormone treatment of short stature due to TS is well established and considering the common etiology of short stature in patients with isolated defects of SHOX gene, this treatment is also proposed for these patients. Here, we review clinical, molecular and therapeutic aspects of SHOX haploinsufficiency.
authors.affiliation: Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM/42, Faculdade de Medicina, Universidade de São Paulo, SP, Brazil. alexj@pq.cnpq.br
authors.forename: Alexander A L
authors.initials: AA
authors.lastname: Jorge
authors.forename: Mirian Y
authors.initials: MY
authors.lastname: Nishi
authors.forename: Mariana F A
authors.initials: MF
authors.lastname: Funari
authors.forename: Silvia C
authors.initials: SC
authors.lastname: Souza
authors.forename: Ivo J P
authors.initials: IJ
authors.lastname: Arnhold
authors.forename: Berenice B
authors.initials: BB
authors.lastname: Mendonça
mesh_terms: D001827:Body Height / Q000235:genetics*; D004392:Dwarfism / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D005801:Genes, Homeobox / Q000235:genetics; D018398:Homeodomain Proteins / Q000235:genetics*; D019382:Human Growth Hormone / Q000627:therapeutic use; D006801:Humans; D010641:Phenotype; D000074122:Short Stature Homeobox Protein
chemical_list: D018398:Homeodomain Proteins; C106071:SHOX protein, human; D000074122:Short Stature Homeobox Protein; D019382:Human Growth Hormone