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Hypothyroidism and sex chromosomes
C Sarri1, G B Côté, C Mengreli
1Institute of Child Health, Aghia Sophia Children's Hospital, Athens, Greece.
Journal of Medical Genetics
|April 1, 1988
Summary
Previous studies suggested a link between sex chromosome abnormalities and hypothyroidism. This study investigated sex chromatin in boys with hypothyroidism, finding no positive cases, which requires further research to confirm or refute the association.
Area of Science:
- Endocrinology
- Genetics
- Pediatrics
Background:
- Previous observations suggested a potential association between Klinefelter's syndrome (XXY) and congenital hypothyroidism.
- Reports of XX males and mosaic XY/XXY individuals with hypothyroidism, alongside sex-based incidence differences, hinted at a possible sex chromosome influence on sporadic hypothyroidism.
- Hypotheses proposed testing hypothyroidism frequency in sex chromatin-positive males or vice versa.
Purpose of the Study:
- To investigate the potential association between sex chromosome abnormalities and hypothyroidism.
- To determine if there is a higher frequency of sex chromatin-positive males among hypothyroid cases compared to the general population.
Main Methods:
- Examined 57 boys diagnosed with hypothyroidism.
- Assessed the presence of sex chromatin in these individuals.
Main Results:
- All 57 boys with hypothyroidism tested negative for sex chromatin.
- This finding allows exclusion of a 100-fold difference in frequency between hypothyroid and normal populations.
Conclusions:
- The study did not find evidence supporting a strong association between hypothyroidism and sex chromatin positivity in males based on this sample.
- Further research with larger sample sizes is necessary to definitively rule out or confirm a link between sex chromosome variations and hypothyroidism.