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[Thyroid involvement in cystinosis]
Archives Francaises De Pediatrie
|November 1, 1978
Insights
Thyroid dysfunction is common in children with cystinosis, with many showing compensated hypothyroidism. This thyroid issue may contribute to the severe growth problems seen in this rare genetic disorder.
Area of Science:
- Pediatric Endocrinology
- Metabolic Disorders
- Genetics
Context:
- Cystinosis is a rare genetic disorder leading to lysosomal accumulation of cystine.
- Growth retardation is a significant clinical manifestation in children with cystinosis.
- Thyroid dysfunction has been anecdotally reported in cystinosis patients.
Purpose:
- To investigate the prevalence and nature of thyroid dysfunction in children diagnosed with cystinosis.
- To explore the potential link between thyroid abnormalities and growth retardation in this cohort.
- To evaluate the preliminary efficacy of thyroid hormone replacement therapy.
Summary:
- Thyroid function tests were performed on 15 children with cystinosis.
- Abnormalities were detected in 12 children, including overt hypothyroidism (3) and subclinical thyroid dysfunction indicated by TSH or TRF response abnormalities (9).
- Compensated hypothyroidism appears frequent and may be a contributing factor to severe growth retardation.
Impact:
- Highlights the high incidence of thyroid dysfunction in pediatric cystinosis.
- Suggests compensated hypothyroidism as a potential contributor to poor growth in cystinosis.
- Provides preliminary evidence supporting thyroid hormone replacement therapy for improving outcomes.
Abstract:
Thyroid function was assessed in 15 children with cystinosis and it was abnormal in 12. Three of these children were clearly hypothyroid and in the other 9 there were abnormalities of TSH or in the response to TRF. Compensated hypothyroidism is frequent in cystinosis and may be one factor in the severe growth retardation in this condition. The preliminary results of replacement therapy support this hypothesis.