Open AccessTowards a Rational and Efficient Diagnostic Approach in Children Referred for Tall Stature and/or Accelerated Growth to the General Paediatrician
Author(s) -
Peter Lauffer,
Gerdine A Kamp,
Leonie A. Menke,
Jan M. Wit,
Wilma Oostdijk
Publication year - 2019
Publication title -
hormone research in paediatrics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.816
H-Index - 89
eISSN - 1663-2826
pISSN - 1663-2818
DOI - 10.1159/000500810
Subject(s) - short stature , pediatrics , medicine , growth hormone deficiency , tall stature , idiopathic short stature , genetic syndromes , bone age , growth hormone , growth retardation , linear growth , turner syndrome , incidence (geometry) , precocious puberty , diagnostic test , delayed puberty , growth hormone treatment , hormone , pregnancy , genetics , biology , physics , mathematics , optics
Tall stature and/or accelerated growth (TS/AG) in a child can be the result of a primary or secondary growth disorder, but more frequently no cause can be found (idiopathic TS). The conditions with the most important therapeutic implications are Klinefelter syndrome, Marfan syndrome and secondary growth disorders such as precocious puberty, hyperthyroidism and growth hormone excess. We propose a diagnostic flow chart offering a systematic approach to evaluate children referred for TS/AG to the general paediatrician. Based on the incidence, prevalence and clinical features of medical conditions associated with TS/AG, we identified relevant clues for primary and secondary growth disorders that may be obtained from the medical history, physical evaluation, growth analysis and additional laboratory and genetic testing. In addition to obtaining a diagnosis, a further goal is to predict adult height based on growth pattern, pubertal development and skeletal maturation. We speculate that an improved diagnostic approach in addition to expanding use of genetic testing may increase the diagnostic yield and lower the age at diagnosis of children with a pathologic cause of TS/AG.