Short Stature in Childhood - Challenges and Choices

and the Center for Child Health and Policy and the Division of Endocrinology and Diabetes, Rainbow Babies and Children's Hospital, Case Western Reserve School of Medicine, Cleveland (L.C.).
New England Journal of Medicine (Impact Factor: 55.87). 03/2013; 368(13):1220-1228. DOI: 10.1056/NEJMcp1213178
Source: PubMed


A family seeks evaluation and treatment of short stature in their 11.5-year-old son. He previously was in the 3rd percentile for height, but his growth rate has slowed during the past 2 years, and his height is now just below the 1st percentile (Fig. 1). His mother is 5 ft 0 in. (152 cm), and his father is 5 ft 6 in. (167 cm). The child's size at birth was normal. His medical history and a review of systems are unremarkable. His physical examination is normal and shows prepubertal development. The complete blood count, erythrocyte sedimentation rate, thyrotropin, tissue transglutaminase antibody, and insulin-like growth factor I (IGF-I) levels and growth hormone levels after provocative testing are normal. His skeletal maturation (bone age) is approximately 9 years, and his predicted adult height is 5 ft 5 in. (165 cm) plus or minus 1.3 in. (3.3 cm).(1) How should his condition be managed?

48 Reads
  • Source
    [Show abstract] [Hide abstract]
    ABSTRACT: La talla baja es un motivo de consulta cada vez más frecuente que el pediatra debe pesquisar. En la evaluación debe incluir una historia clínica completa, examen físico con una correcta evaluación auxiológica y un seguimiento adecuado de la velocidad de crecimiento. De esta forma, los exámenes complementarios irán orientados a confirmar una sospecha diagnóstica. A pesar de que la mayoría de los pacientes tendrá una talla baja idiopática o variante normal, en alrededor de un 5% estaremos frente a patología. El enfoque terapéutico, debe estar siempre orientado a la causa. Existen terapias que pueden mejorar la estatura final pero tienen indicaciones precisas y no están exentas de complicaciones. Un estilo de vida saludable y un ambiente psicosocial favorable, permitirán que el niño desarrolle al máximo su potencial genético.
    Full-text · Article · Sep 2013
  • [Show abstract] [Hide abstract]
    ABSTRACT: Most children who have short or tall stature are healthy and are simply at the extremes of the normal range. Children settle on to a centile position by 2 or 3 years of age and after this a normal child will grow fast enough to stay on the same centile until puberty. During puberty, sex steroids stimulate growth directly and increase growth hormone (GH) secretion, leading to the pubertal growth spurt. Most short children are growing in a normal pattern. Any short child whose pattern of growth is abnormal (reduced growth velocity) should be investigated. Endocrine causes of reduced growth velocity include GH deficiency and hypothyroidism; in Turner's syndrome and skeletal dysplasias GH secretion is normal but the skeletal response is abnormal. Most tall children are growing in a normal pattern and do not have any underlying pathology. It is important to exclude Marfan's and Klinefelter's syndromes, and central precocious puberty. GH-secreting adenomas are a rare cause of tall stature.
    No preview · Article · Oct 2013 · Medicine
  • [Show abstract] [Hide abstract]
    ABSTRACT: Growth hormone (GH) exerts a diverse array of physiological actions that includes prominent roles in growth and metabolism, with a major contribution via stimulating insulin-like growth factor-1 (IGF-1) synthesis. GH achieves its effects by influencing gene expression profiles, and Igf1 is a key transcriptional target of GH signaling in liver and other tissues. This review examines the mechanisms of GH-mediated gene regulation that begin with signal transduction pathways activated downstream of the GH receptor and continue with chromatin events at target genes, and additionally encompasses the topics of negative regulation and crosstalk with other cellular inputs. The transcription factor Stat5b is regarded as the major signaling pathway by which GH achieves its physiological effects, including in stimulating Igf1 gene transcription in liver. Recent studies exploring the mechanisms of how activated Stat5b accomplishes this are highlighted, which begin to characterize epigenetic features at regulatory domains of the Igf1 locus. Further research in this field offers promise to better understand the GH-IGF-1 axis in normal physiology and disease and identify strategies to manipulate the axis to improve human health.
    No preview · Article · May 2014 · Molecular Endocrinology
Show more