Tall stature and gigantism in transition age: clinical and genetic aspects—a literature review and recommendations

Journal article

Introduction: Reduction in adult height by high-dose sex steroids was introduced decades ago. Here, we present the impact of lower doses of sex steroids on the predicted adult height (PAH) in children with tall stature. Methods: This singlecenter retrospective observational study included 22 tall children treated with low-dose sex steroids. Patients with familial tall stature, constitutional advance of growth, or Marfan syndrome were included. Anthropometric measurements at the commencement of treatment, six-monthly intervals on treatment, cessation of treatment, and at final assessment, were evaluated. Bone age (BA) determination, and PAH were made using both the tables of Bayley-Pinneau (BP) and Tanner- Whitehouse (TW) mark II methods. Results: The final height was significantly lower than the predicted height in girls whereas it was not significantly lower than predicted height in boys. In patients with Marfan syndrome, the final height was only lower than the prediction of TW rather than BP. Non- Marfan cases had significantly lower final height than both the predicted heights. Conversely, although there was a decrease in height SDS over time, this difference was not statistically significant in the study cohort. Starting treatment at early BA (<10 years) did not affect the last height SDS or the difference between predicted height and final height. Conclusion: Sex difference, sex steroid dosage, differences in treatment duration and differences in BA measurement method, PAH method, BA and chronological age at the start of treatment may all influence the therapy response. Shortcomings about these influences can be overcome in future prospective studies with a larger sample size

Authors: Sada, V; Puliani, G; Feola, T; Pirchio, R; Pofi, R

• Publication status: Published
• Peer review status: Peer reviewed
• Publisher: Springer
• Journal: Journal of Endocrinological Investigation
• Volume: 47
• Issue: 4
• Pages: 777-793
• Publication date: 2023-10-27
• DOI: 10.1007/s40618-023-02223-z
• EISSN: 1720-8386
• ISSN: 0391-4097
• Language: English
• Keywords: Short stature; Transition (genetics); Achondroplasia; Endocrinology; Genetics; Tall Stature; Pediatrics; Gigantism; Medicine; Biology