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Determination of Reproductive Competence by Confirming Pubertal Onset and Performing a Fertility Assay in Mice and Rats
Published on: October 13, 2018
Pubertal boy presenting with mild disproportionate short stature
Maria Chiara Pellegrin1, Gianluca Tornese2, Egidio Barbi2,3
1Institute for Maternal and Child Health - IRCCS "Burlo Garofolo", Trieste, Italy mariachiara.pellegrin@gmail.com.
Insights
A 12-year-old boy presented with short stature and growth deceleration. Investigations revealed disproportionate limb shortening, suggesting a skeletal dysplasia impacting growth.
Area of Science:
- Pediatric Endocrinology
- Genetics
- Skeletal Dysplasias
Background:
- Short stature in children is a common referral concern.
- Growth deceleration from infancy can indicate underlying conditions.
- Family history and anthropometric measurements are crucial for diagnosis.
Purpose of the Study:
- To investigate the cause of short stature and growth deceleration in a 12-year-old boy.
- To evaluate for skeletal abnormalities contributing to disproportionate growth.
Main Methods:
- Clinical examination including anthropometry (height, weight, BMI, arm span/height, sitting height/height ratios).
- Assessment of pubertal stage and testicular volume.
- Radiographic evaluation of bone age and skeletal features (hand X-ray, wrist curvature).
Main Results:
- Patient exhibited significant short stature (height -2.22 SDS) with growth deceleration (growth velocity -2.1 SDS).
- Disproportionate growth noted: shorter legs/forearms, abnormal arm span/height, and sitting height/height ratios.
- Clinical resemblance to father with abnormal wrist curvature; bone age matched chronological age.
Conclusions:
- The patient's presentation is suggestive of a skeletal dysplasia.
- Disproportionate short stature and specific limb measurements are key diagnostic indicators.
- Further genetic evaluation may be warranted to identify the specific condition.
Abstract:
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.
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