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High prevalence of thyroxine-binding globulin deficiency among Bedouin infants in southern Israel
E Hershkovitz1, E Leiberman, S Refetoff
1Pediatric Endocrine Unit, Soroka University Hospital, Beer Sheva, Israel.
Insights
Thyroxine-binding globulin deficiency is highly prevalent in Bedouin newborns in Israel, exceeding rates in other populations and even congenital hypothyroidism. Further genetic analysis suggests multiple mutations may be present.
Area of Science:
- Endocrinology
- Human Genetics
- Neonatal Screening
Background:
- Thyroxine-binding globulin (TBG) deficiency is a rare genetic condition affecting thyroid hormone transport.
- High-resolution population studies are crucial for understanding genetic variations and disease prevalence.
Purpose of the Study:
- To determine the prevalence of thyroxine-binding globulin deficiency in Bedouin newborns in the Negev region.
- To compare this prevalence with congenital hypothyroidism and other global populations.
- To investigate potential genetic underpinnings of TBG deficiency in this cohort.
Main Methods:
- A prospective study was conducted over two years.
- Thyroxine-binding globulin levels were analyzed in a cohort of Bedouin newborns.
- Genetic analysis was performed on four affected patients.
Main Results:
- A significantly high prevalence of thyroxine-binding globulin deficiency was identified among Bedouin newborns.
- The observed prevalence was notably higher than in previously reported populations.
- Thyroxine-binding globulin deficiency was found to be more common than congenital hypothyroidism in this group.
- Preliminary genetic findings suggest the presence of at least two distinct mutations within the Bedouin population.
Conclusions:
- Bedouin newborns in the Negev exhibit an unusually high prevalence of thyroxine-binding globulin deficiency.
- This condition is more frequent than congenital hypothyroidism in this specific population.
- The findings indicate a potential genetic predisposition, possibly involving multiple mutations, within the Bedouin community.
Abstract:
A high prevalence of thyroxine-binding globulin deficiency was found among Bedouin newborns in the Negev area (southern Israel) during a study lasting 2 years. This prevalence is significantly higher than those reported in other populations. Moreover, thyroxine-binding globulin deficiency was found to be more common than congenital hypothyroidism among the Bedouin. The results of thyroxine-binding globulin analysis in four patients may suggest the coexistence of at least two different mutations among the Bedouin population.