Epidemiology of Disorders Associated with Short Stature in Childhood: A 20-Year Birth Cohort Study in Finland

Samuli Harju,1,2 Antti Saari,1,2 Reijo Sund,1 Ulla Sankilampi1,2 1Institute of Clinical Medicine, School of Medicine, University of Eastern Finland, Kuopio, Finland; 2Department of Paediatrics, Kuopio University Hospital, Kuopio, FinlandCorrespondence: Samuli Harju, Institute of Clinical Medicine, School of Medicine, University of Eastern Finland, PO Box 1627, Kuopio, 70211, Finland, Email samuli.harju@gmail.comBackground: Many primary and secondary disorders disturb growth and cause short stature (height below − 2 SDS) in childhood. Growth monitoring programs aim at their early detection but are not evidence-based: epidemiology of childhood growth disorders is poorly characterized, and no consensus exists on priority target conditions. Herein, we describe population-based epidemiological data on several primary and secondary growth disorders associated with short stature in childhood.Materials and Methods: This retrospective population-based 20-year birth cohort study examined 1 144 503 children (51% boys) born in Finland between 1998 and 2017, with 16.5 million care notifications including medical diagnoses. The first occurrences of key primary or secondary growth disorders were identified in multiple registers. Median ages at diagnosis (MAD), and age- and sex-specific cumulative incidences (CMI) from birth until 16 years of age were determined.Results: Turner syndrome was the most common primary growth disorder (CMI 52 per 100 000 at 16 years, MAD 4.0 years). Most primary growth disorders were diagnosed before the age of 4 years, and thereafter, secondary growth disorders increased in number. MAD of growth hormone deficiency (GHD) was 8.7 (boys) and 7.2 years (girls). At 16 years, the CMI of GHD was higher in boys than in girls (127 versus 93 per 100 000, respectively), whereas the CMI of hypothyroidism was higher in girls (569 versus 306 per 100 000). Celiac disease was the most common secondary growth disorder and more common in girls than in boys (988 versus 546 per 100 000 at 16 years, respectively).Conclusion: These population-based epidemiological data indicate that childhood growth monitoring should be age- and sex-specific. In the early childhood, the focus should be on primary growth disorders, and from preschool age also on secondary growth disorders. These results provide evidence for improving growth monitoring programs and diagnostic practices targeting on Turner syndrome, GHD, hypothyroidism, and celiac disease.Keywords: short stature, childhood, growth disorder, epidemiology, cumulative incidence