Paeds Vivas · endocrinology-diabetes-and-growth
Constitutional delay and familial short stature — branching viva
Branching viva on the short child: reading the growth-chart trajectory and bone age to distinguish familial short stature from constitutional delay, excluding the pathological mimics, and managing the distressed adolescent — then branching to the short girl with a delayed bone age and the risk of missing Turner syndrome.
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Target exams
Opening question
A fourteen-year-old boy has no signs of puberty, a bone age of eleven years, and a father who shaved late. His height is appropriate for his bone age. What is the most likely diagnosis, and what single comparison at the bedside confirms it? [3] [4]
Branch 1 — distinguishing the variants and the mimic
How do you distinguish constitutional delay from familial short stature, and what is the discriminator? Then, how would the presentation differ if this were growth hormone deficiency rather than a normal variant? [1] [2]
Branch 2 — the short girl and Turner syndrome
Now consider a twelve-year-old girl with short stature, no breast development, and a delayed bone age. Why must Turner syndrome stay on the differential even without classic stigmata, and what investigation secures the distinction before the short stature is labelled constitutional? [1]
Branch 3 — the distressed adolescent and the offer of therapy
The boy is distressed by his prepubertal appearance among his peers. What is the role of a short course of testosterone, what is a representative dose and duration, and what are its goals and its limits? Why is growth hormone not indicated? [3] [4]
Closing — the principle
In one sentence, what is the single most testable principle that governs the management of the normal variants of short stature? [1] [2]
References
- [1]Caro R, Savel P, Moss PI. Evaluation of Short and Tall Stature in Children. Am Fam Physician, 2025.PMID 40531152
- [2]Wit JM, Oostdijk W. Novel approaches to short stature therapy. Best Pract Res Clin Endocrinol Metab, 2015.PMID 26051296
- [3]Butler G, Purushothaman P. Delayed puberty. Minerva Pediatr, 2020.PMID 32748610
- [4]Luciano TM, Stecchini MF, Antonini SRR. Boys with constitutional delay of growth and puberty developed spontaneous puberty and reached standard adult height without pharmacological therapy. J Pediatr (Rio J), 2025.PMID 40784365