Epidemiology of disorders associated with tall stature in childhood: a 20-year birth cohort study

Samuli Harju; Antti Saari; Reijo Sund; Ulla Sankilampi

doi:10.1530/endoabs.110.P580

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Endocrine Abstracts (2025) 110 P580 | DOI: 10.1530/endoabs.110.P580

ECEESPE2025 Poster Presentations Growth Axis and Syndromes (91 abstracts)

Epidemiology of disorders associated with tall stature in childhood: a 20-year birth cohort study

Samuli Harju^{1, 2}, Antti Saari^{1, 2}, Reijo Sund¹ & Ulla Sankilampi^{1, 2}

Author affiliations

¹University of Eastern Finland, School of Medicine, Institute of Clinical Medicine, Kuopio, Finland; ²Kuopio University Hospital, Department of Paediatrics, Kuopio, Finland

JOINT577

Background: Many primary and secondary disorders in childhood may cause tall stature (height of +2 SD above the mean height for age and sex). Growth-monitoring programs are aimed at early detection of such disorders to avoid permanent health consequences and support children’s wellbeing. However, epidemiological data on disorders associated with tall stature in childhood are scarce.

Aim: To specify age- and sex-specific data on the incidence of disorders associated with tall stature and to develop better diagnostic practices.

Materials and Methods: Retrospective population-based study included 1 144 503 children (51% boys) born in Finland between 1998 and 2017 with 16. 5 million register notifications including medical diagnoses. The first occurrences of essential disorders associated with tall stature were identified from multiple registers. The age- and sex-specific cumulative incidences (CMIs) from birth until 18 years of age and the median age at diagnosis were determined.

Results: A total of 3329 children (47% boys) had one of the selected disorders (0. 3% of the whole birth cohort). Central precocious puberty (CMI of 1/894 girls at 8 years, and 1/4856 boys at 9 years) were more common among girls.

Comparison of LS-BMD and TBLH-BMD Z-scores (Mann-Whitney test).
Disorder (n)		CMI per 100 000 children Age (years) 0 2 6 10 14					CMI at 18 years	Age at diagnosis (years)
Klinefelter syndrome	Boys (167)	6. 2	13. 2	18. 8	27. 2	34. 0	1/2146	8. 4
47, XYY syndrome	Boys (96)	2. 6	4. 3	11. 0	17. 9	23. 1	1/3837	6. 6
Triple X syndrome	Girls (68)	3. 2	6. 4	10. 3	13. 0	15. 1	1/6277	3. 7
Marfan syndrome	Girls (92) Boys (65)	0. 5 0. 5	7. 4 4. 8	12. 0 8. 3	17. 2 10. 5	21. 2 13. 4	1/4307 1/5202	5. 9 7. 1
Congenital over-growth syndromes	Girls (99) Boys (101)	0. 7 2. 4	10. 9 10. 7	17. 5 16. 3	19. 3 18. 7	21. 2 19. 7	1/4717 1/4925	1. 7 1. 8
Idiopathic tall stature	Girls (844) Boys (844)	0 0	30. 4 35. 4	105. 3 94. 8	176. 3 169. 2	210. 5 200. 9	1/436 1/454	6. 5 6. 6

Conclusions: This study provided the first age- and sex-specific epidemiological data on several primary and secondary disorders associated with tall stature. These disorders proved to be rather rare yet underdiagnosed in childhood. We suggest that during early childhood, the focus of growth screening should be particularly on Marfan syndrome and congenital overgrowth syndromes, with the addition of Klinefelter syndrome and central precocious puberty thereafter. It is important to distinguish these pathological causes from idiopathic tall stature, which represented half of all cases associated with tall stature.