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Pubertal boy presenting with mild disproportionate short stature
  1. Maria Chiara Pellegrin1,
  2. Gianluca Tornese1,
  3. Egidio Barbi1,2
  1. 1 Institute for Maternal and Child Health - IRCCS “Burlo Garofolo”, Trieste, Italy
  2. 2 University of Trieste, Trieste, Italy
  1. Correspondence to Dr Maria Chiara Pellegrin, IRCCS materno infantile Burlo Garofolo, Trieste 34127, Italy; mariachiara.pellegrin{at}


­A boy aged 12 years was referred with short stature. He was born at term, of adequate weight (10–25th centile) and length (10–25th centile), which settled to just below the third centile from 18 months of age, with a growth deceleration in the last 6 months (growth velocity −2.1 standard deviation score, according to Tanner charts). He was otherwise asymptomatic. His mother’s height was 155 cm, and father’s height 158 cm, and he was growing near his target height centile (−2.26 SDS, <3rd centile).

On examination, his height was −2.22 SDS, with normal weight and body mass index (BMI). Pubertal stage corresponded to Tanner 2, with a testicular volume of 4 mL. His legs and forearms appeared shorter, with arm span/height ratio 0.93 (normal value >0.965) and sitting height/height ratio 0.56 (slightly above the normal upper value of 0.55). He resembled his father, whose wrists were abnormally curved (figure 1). The patient’s hand X-ray showed that bone age was similar to chronological age.

Figure 1

Disproportionate mesomelic short stature in the patient and in his father.


  1. What is the most likely diagnosis?

    1. Constitutional growth delay

    2. Growth hormone deficiency

    3. SHOX gene deficiency

    4. Idiopathic short stature

  2. Which diagnostic test should be considered?

  3. How should this patient be managed?

Questions Answers can be found on page 2.

  • short stature
  • Léri-Weill dyschondrosteosis
  • SHOX gene
  • skeletal deformity
  • growth hormone

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  • Contributors MCP drafted the initial manuscript. MCP and GT contributed to achieving the clinical diagnosis of the case. GT and EB critically reviewed the manuscript. All the authors approved the final manuscript as submitted and agreed to be accountable for all aspects of the work.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; internally peer reviewed.