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SHOX gene variants: growth hormone/insulin-like growth factor-1 status and response to growth hormone treatment.
Shapiro, Sofia; Klein, Genna W; Klein, Michelle L; Wallach, Elizabeth J; Fen, Ye; Godbold, James H; Rapaport, Robert.
Afiliação
  • Shapiro S; Division of Pediatric Endocrinology and Diabetes, Mount Sinai School of Medicine, New York, N.Y., USA.
Horm Res Paediatr ; 83(1): 26-35, 2015.
Article em En | MEDLINE | ID: mdl-25659810
CONTEXT: Short stature homeobox-containing gene (SHOX) variants of unknown clinical significance occur frequently among children with short stature, yet their growth hormone (GH)/insulin-like growth factor-1 (IGF-1) status and response to GH have not been studied. OBJECTIVE: To define GH and IGF-1 status in children with SHOX variants and assess their response to GH. PATIENTS AND METHODS: This is a retrospective review of children with short stature. Children with SHOX variants were compared to those with no variants. Height standard deviation scores (SDS) and IGF-1 SDS at baseline and during GH treatment at 6, 12, and 24 months were analyzed. Growth velocity (GV), maximum GH dose, IGF-BP3, and changes in height SDS, IGF-1 SDS, and GV were compared. RESULTS: Among 355 children, 83 (23%) had SHOX variants. Nineteen different SHOX variants were detected. There was no difference in age, height SDS, IGF-1 SDS, or IGF-BP3 between children with SHOX variants and those with normal SHOX. Height SDS, IGF-1 SDS, IGF-BP3, GV, and GH dose were not different between patients with SHOX variants and those without. CONCLUSIONS: The GH and IGF-1 characteristics of children with short stature were not different between children with SHOX+ variants and children with no variants. Although these findings suggest that SHOX variants are polymorphisms, studies prospectively comparing individual SHOX variants are needed.
Assuntos

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Estatura / Fator de Crescimento Insulin-Like I / Proteínas de Homeodomínio / Hormônio do Crescimento Humano / Transtornos do Crescimento Tipo de estudo: Observational_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2015 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Estatura / Fator de Crescimento Insulin-Like I / Proteínas de Homeodomínio / Hormônio do Crescimento Humano / Transtornos do Crescimento Tipo de estudo: Observational_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2015 Tipo de documento: Article