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Growth hormone neurosecretory dysfunction associated with ring chromosome 18
S Aritaki1, A Takagi, H Someya
1Department of Pediatrics, Tokyo Medical College, Kasumigaura Hospital, Ibaragiken, Japan.
Acta Paediatrica Japonica : Overseas Edition
|October 1, 1996
Summary
A 5-year-old girl with short stature and a ring chromosome 18 exhibited growth hormone neurosecretory dysfunction (GHND). This case highlights
Area of Science:
- Genetics
- Endocrinology
- Pediatrics
Background:
- Short stature is a common concern in pediatric endocrinology.
- Ring chromosome abnormalities can present with diverse phenotypes.
- Growth hormone deficiency is a primary cause of impaired growth in children.
Observation:
- A 5-year-old female presented with severe short stature ( -3.9 SD).
- Karyotype revealed a 46, XX, r(18)(p11q23) ring chromosome 18 without apparent deletion symptoms.
- Standard provocative tests for growth hormone (GH) showed normal responses.
Findings:
- Despite normal provocative test results, 24-hour monitoring indicated low mean blood GH levels, suggesting growth hormone neurosecretory dysfunction (GHND).
- The patient's phenotype aligns with 'ring syndrome,' characterized by short stature associated with ring autosomes.
Implications:
- This case underscores the importance of continuous GH monitoring in diagnosing GHND, even with normal provocative tests.
- It contributes to understanding the phenotypic spectrum of ring chromosome 18 and 'ring syndrome'.
- Further research may elucidate the specific mechanisms linking ring autosomes to GHND.