Genetic and endocrine causes of short stature in children: Experience from a tertiary centre in North India

Abstract

Objectives: Although the aetiological spectrum of short stature (SS) in developing countries has evolved with improvements in nutrition, infectious disease control and diagnostic capabilities, contemporary data from the Himalayan region of North India – particularly those including genetic evaluation – are limited. Material and Methods: This retrospective study included children aged 2–15 years with SS (height standard deviation score [SDS] <−2 according to modified Indian Academy of Pediatrics growth charts) evaluated between March 2020 and 2020 January 2025. Clinical, anthropometric, biochemical, radiological, and genetic data were reviewed. Aetiologies were categorised as constitutional delay of growth and puberty (CDGP), growth hormone deficiency (GHD), Turner syndrome, systemic disorders, genetic/syndromic disorders, primary hypothyroidism and rickets. Results: Of 213 children evaluated for SS during the study period, 93 met inclusion criteria (48 males, 45 females). The mean age at diagnosis of males was 130.86 ± 56 months and 142.52 ± 33 months in females ( p = 0.246). Genetic and syndromic causes, including Turner syndrome, accounted for 39.7% of cases ( n = 37), representing the largest aetiological group. Among males, genetic disorders (29.1%), GHD (20.8%) and CDGP (18.7%) were the most common causes. Among females, Turner syndrome was the leading aetiology (35.5%), followed by systemic disorders (15.5%) and genetic/syndromic disorders (15.5%). Children with CDGP had the mildest height deficit (mean height SDS –2.69 ± 1.19), whereas those with GHD and genetic disorders had more severe SS. Conclusion: Genetic and endocrine disorders constitute a substantial proportion of SS in children presenting to a tertiary endocrine centre. These findings underscore the importance of comprehensive evaluation, including consideration of genetic aetiologies, in children with SS.