Supplement
Etiologies and Early Diagnosis of Short Stature and Growth Failure in Children and Adolescents

https://doi.org/10.1016/j.jpeds.2014.02.027Get rights and content

Accurate measurement of height and weight using standardized techniques is a fundamental component of pediatric medical visits. Calculation of height velocity over time enables comparison with standardized growth charts to identify potential deviations from normal. Growth deviations may be expressed as SD from the normal population mean for children of comparable age and sex; children with heights >2 SD below the mean are generally classified as short stature. In a child with suspected impaired growth, a detailed evaluation should be conducted to identify the cause. Such an evaluation may include a combination of personal, family, and social history; physical examination; general and perhaps specialized laboratory evaluations; radiologic examinations; genetic testing; and consultation with a pediatric subspecialist, such as a pediatric endocrinologist. Variants of normal growth include familial short stature, constitutional delay of growth and puberty, and small for gestational age with catch-up growth. Pathological causes of abnormal growth include many systemic diseases and their treatments, growth hormone deficiency, and a series of genetic syndromes, including Noonan syndrome and Turner syndrome. Children with short stature in whom no specific cause is identified may be diagnosed with idiopathic short stature. Early identification of abnormal growth patterns and prompt referral to specialist care offer children with growth failure and/or short stature the greatest chance for appropriate diagnosis, treatment, and improved clinical outcomes.

Section snippets

How to Measure Growth

Key evaluations used to determine growth in children over time include measurements of length or height, weight, and head circumference.1, 3 Determination of the circumference of the waist, hips, and neck and measurement of skin folds may provide additional information on growth in selected children.

Length is usually the measurement of choice in children aged <2 years, and height is the standard measurement for children aged >3 years.3 Between 2 and 3 years of age, both measurements often are

Monitoring Growth in Infants, Children, and Adolescents

“Normal” growth can be defined as a Gaussian phenomenon.4 Values for continuous variables, such as height and weight, are distributed along a bell-shaped curve, also known in statistical terms as the normal distribution (a graphical representation of normal distribution can be found in an article by Rogol4). The total area under the curve includes 100% of the analyzed population values, which are distributed to the left (eg, children with shorter stature compared with the mean) or to the right

Differentiating between Variants of Normal Growth and Pathological Short Stature

Growth failure may be detected during a routine well-child visit or on presentation with signs or symptoms of an acute or chronic illness, which may or may not be related to the child's current growth pattern. Clinical suspicion of growth impairment should prompt a review of the child's medical, family, and social histories, as well as a review of systems. Particular attention should be given to the series of issues outlined in Table I. A careful patient history may reveal abnormal growth in

Further Evaluation and Referral to a Pediatric Subspecialist

Although genetic syndromes associated with pathological stature are not very common (see the incidence data in the Table I, Table II, Table III, Table IV, Table V, Table VI, Table VII, Table VIII, Table IX, Table X, Table XI, Table XII, Table XIII, Table XIV, Table XV, Table XVI), studies suggest that there are often significant delays in diagnosis.74 For example, in a Danish series of 746 female patients (children and adults) with a karyotype compatible with a diagnosis of TS, the median age

Discussion

Short stature in infants, children, and adolescents may be due to variations in normal growth or to pathologic states. Accurate assessment and monitoring of growth in children is of critical importance for early identification of defects associated with treatable conditions versus growth variations associated with normal conditions.3 Key parameters related to growth should be monitored, including length or height according to age, weight, BMI, and HV compared with the mean of the reference

References (87)

  • P.A. Lee et al.

    Effect of 4 years of growth hormone therapy in children with Noonan syndrome in the American Norditropin Studies: Web-Enabled Research (ANSWER) Program registry

    Int J Pediatr Endocrinol

    (2012)
  • W.A. Horton et al.

    Standard growth curves for achondroplasia

    J Pediatr

    (1978)
  • L.A. Cox et al.

    Practical auxology: techniques of measurement and assessment of skeletal maturity

  • A.D. Rogol

    Clinical and humanistic aspects of growth hormone deficiency and growth-related disorders

    Am J Manag Care

    (2011)
  • A. Maqbool et al.

    Clinical assessment of nutritional status

  • A.D. Rogol et al.

    Body measurements

  • World Health Organization. WHO child growth standards. Available from: http://www.who.int/childgrowth/standards/en/...
  • Centers for Disease Control and Prevention. CDC growth charts. Available from:...
  • L.M. Grummer-Strawn et al.

    Use of World Health Organization and CDC growth charts for children aged 0-59 months in the United States

    MMWR Recomm Rep

    (2010)
  • Rogol AD, Geffner M, Hoppin AG. Diagnostic approach to short stature. Available from:...
  • M.G. Vogiatzi et al.

    The short child

    Pediatr Rev

    (1998)
  • J. Karlberg et al.

    Linear growth retardation in relation to the three phases of growth

    Eur J Clin Nutr

    (1994)
  • V. Abbassi

    Growth and normal puberty

    Pediatrics

    (1998)
  • J.M. Tanner et al.

    Standards for children's height at ages 2-9 years allowing for heights of parents

    Arch Dis Child

    (1970)
  • T.J. Cole et al.

    A chart to predict adult height from a child's current height

    Ann Hum Biol

    (2011)
  • J.M. Wit et al.

    Predicting adult height from a child's current height

    BMJ

    (2011)
  • S.G. Kant et al.

    Radiographic evaluation of children with growth disorders

    Horm Res

    (2007)
  • J. Hall et al.

    Handbook of normal physical measurements

    (1989)
  • J.C. Wells et al.

    Measuring body composition

    Arch Dis Child

    (2006)
  • A.P. Goldstone et al.

    Recommendations for the diagnosis and management of Prader-Willi syndrome

    J Clin Endocrinol Metab

    (2008)
  • P. Cohen et al.

    Consensus statement on the diagnosis and treatment of children with idiopathic short stature: a summary of the Growth Hormone Research Society, the Lawson Wilkins Pediatric Endocrine Society, and the European Society for Paediatric Endocrinology Workshop

    J Clin Endocrinol Metab

    (2008)
  • W. Oostdijk et al.

    Diagnostic approach in children with short stature

    Horm Res

    (2009)
  • J.L. Frias et al.

    Health supervision for children with Turner syndrome

    Pediatrics

    (2003)
  • Novo Nordisk Inc. Growth Chart: Noonan syndrome girls 2 to 20 years, stature and growth velocity for age. Available...
  • Novo Nordisk Inc. Growth chart: Noonan syndrome boys 2 to 20 years, stature and growth velocity for age. Available...
  • A.H. Clayton

    Symptoms related to the menstrual cycle: diagnosis, prevalence, and treatment

    J Psychiatr Pract

    (2008)
  • J. Rovet et al.

    Congenital hypothyroidism: a review of current diagnostic and treatment practices in relation to neuropsychologic outcome

    Paediatr Drugs

    (2003)
  • F.K. Grote et al.

    The diagnostic workup of growth failure in secondary health care; an evaluation of consensus guidelines

    BMC Pediatr

    (2008)
  • R. Stanhope et al.

    Management of constitutional delay of growth and puberty

    Arch Dis Child

    (1988)
  • P.E. Clayton et al.

    Management of the child born small for gestational age through to adulthood: a consensus statement of the International Societies of Pediatric Endocrinology and the Growth Hormone Research Society

    J Clin Endocrinol Metab

    (2007)
  • P. Saenger et al.

    Small for gestational age: short stature and beyond

    Endocr Rev

    (2007)
  • O. Butenandt et al.

    Growth velocity in constitutional delay of growth and development

    J Pediatr Endocrinol Metab

    (2010)
  • I.E. Olsen et al.

    New intrauterine growth curves based on United States data

    Pediatrics

    (2010)
  • Cited by (118)

    • Pediatric disorders of stature

      2023, Encyclopedia of Child and Adolescent Health, First Edition
    View all citing articles on Scopus

    Supported by Novo Nordisk.

    Please see the Author Disclosures at the end of this article.

    View full text