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Short stature in a patient with Klinefelter syndrome and growth hormone deficiency
1Department of Paediatrics, Catholic University, Rome, Italy.
Insights
Klinefelter syndrome (KS) is rarely associated with idiopathic growth hormone deficiency (IGHD). Growth hormone therapy effectively and safely improved height velocity and catch-up growth in a KS patient with IGHD.
Area of Science:
- Pediatric Endocrinology
- Genetics
- Growth Disorders
Background:
- Klinefelter syndrome (KS) is a genetic condition affecting males, typically associated with taller stature.
- Short stature in KS can be caused by various factors, including hormonal deficiencies.
- Idiopathic growth hormone deficiency (IGHD) is a less common cause of short stature.
Observation:
- A pediatric patient presented with Klinefelter syndrome and significant short stature, below mid-parental height.
- Bone age assessment revealed a marked delay, indicating impaired skeletal maturation.
- The patient was diagnosed with idiopathic growth hormone deficiency (IGHD).
Findings:
- Growth hormone (GH) therapy was initiated, leading to a substantial increase in height velocity from 4.5 cm/year to 8.2 cm/year within one year.
- Typical catch-up growth was observed during the treatment period.
- No adverse reactions to recombinant somatotropin (recombinant GH) were reported.
Implications:
- This case highlights the rare co-occurrence of Klinefelter syndrome and IGHD.
- Recombinant somatotropin treatment appears effective and safe for managing short stature in aneuploid patients like those with KS.
- Further research may elucidate the specific mechanisms underlying this rare association and treatment response.
Abstract:
We report on a child with Klinefelter syndrome and short stature due to idiopathic growth hormone deficiency (IGHD). His height was below the mid-parental height, with a significant delay in bone age. Height velocity increased from 4.5 to 8.2 cm/year during 1 year of GH therapy and typical catch-up growth was observed. No adverse reactions to the treatment were observed. We wish to emphasize the rare association between Klinefelter syndrome and IGHD and the apparent effectiveness and safety of recombinant somatotropin treatment in aneuploid patients.