Growth Monitoring and Diagnostic Work-up of Short Stature: An International Inventorization

Abstract

Background/Aims: Growth monitoring is almost universally performed, but few data are available on which referral criteria and diagnostic work-up are used worldwide for children with short stature. Methods: A short questionnaire, containing questions on auxological screening and on diagnostic criteria for short stature, was sent to all members of the European Society of Paediatric Endocrinology (ESPE) and to several pediatric endocrinologists outside Europe. Results: Responses were received from 36 countries. In 27 (75%) a child health care program existed and in 14 (39%) there was a protocol for referral of children with growth retardation. Height for age was mostly used as a referral criterion. Sixteen countries (45%) reported having a guideline in secondary health care for diagnostic work-up. Although all countries agreed on having biochemical, radiological and/or genetic tests in the diagnostic work-up, there was a wide variety of recommended tests. Conclusions: There is little consensus on referral criteria and diagnostic work-up of children with short stature among industrialized countries. There is a need to establish evidence-based guidelines.

Idiopathic short stature: Definition, epidemiology, and diagnostic evaluation

“…There is no consensus about which systemic disorders should be excluded, and how this should be done, before the ''diagnosis" ISS is made [36]. It obviously depends on the skills of the clinician whether (s)he performs a thorough medical history, physical examination, and laboratory screening to exclude known causes of short stature.…”

“…For screening purposes, many clinicians evaluate three parameters of growth: (1) the child's height compared with the best reference available, leading to the height position (SDS or percentile) of the child compared with the population reference; (2) the child's height SDS compared with target height SDS based on parental height, and (3) the child's growth curve based on previous growth data in terms of slowed growth (growth deflection, growth faltering), crossing the SD or percentile lines, leading to a parameter of growth velocity either expressed as cm/year or SDS, or delta height SDS [36]. It was recently reported that an auxological screening guideline in terms of growth velocity, would lead to far too many referrals [121] and that the distance between height SDS and target height SDS is a better screening parameter for Turner syndrome and other pathology than height SDS as such or the change in height SDS over time [101,102], although a reported parental height has a rather low accuracy [122].…”

“…Its main aim is to detect or exclude anemia and infectious or inflammatory diseases. An international inquiry showed that these tests were recommended in most countries with guidelines for diagnostic work up [36]. The available literature shows that there is a strong relationship between thalassemia, sickle cell disease and growth retardation [127][128][129][130].…”

An aetiological evaluation of short stature

“…4 Further evaluation of pathological short stature is done as per various etiologies. 5,6 Familial short stature and Constitutional Growth delay are considered as normal variants. 7 While the pathological short stature includes a wide variety of underlying disorders.…”

Should Blood Gas Analysis Be Part of the Diagnostic Workup of Short Children? Auxological Data and Blood Gas Analysis in Children with Renal Tubular Acidosis

“…However, RTA is a rare condition, and in a retrospective analysis of 742 short children no case with RTA was found (although the compliance with the guideline was far from optimal) [8] . Among pediatric endocrinologists there is no worldwide consensus about including this test in the screening procedure for growth failure: only 32% of the participating pediatric endocrinologists considered blood gas analysis important in the evaluation of a child with failure to thrive [9] .…”