Pubertal boy presenting with mild disproportionate short stature

Maria Chiara Pellegrin, Gianluca Tornese, Egidio Barbi

Research output: Contribution to journalReview articlepeer-review


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. Questions: What is the most likely diagnosis? Constitutional growth delay Growth hormone deficiency SHOX gene deficiency Idiopathic short stature Which diagnostic test should be considered? How should this patient be managed? Answers can be found on page 2.

Original languageEnglish
JournalArchives of Disease in Childhood: Education and Practice Edition
Publication statusAccepted/In press - Jan 1 2019


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

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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