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Open AccessArticle

Familial Aggregation of Endemic Congenital Hypothyroidism Syndrome in Congo (DR): Historical Data

1
X Research, Langmoosweg 21, 5023 Salzburg, Austria
2
Ecole de Santé Publique, Campus Erasme, Université Libre de Bruxelles, 808 route de Lennik, 1070 Bruxelles, Belgium
*
Author to whom correspondence should be addressed.
Nutrients 2020, 12(10), 3021; https://doi.org/10.3390/nu12103021
Received: 8 September 2020 / Revised: 28 September 2020 / Accepted: 29 September 2020 / Published: 2 October 2020
Familial aggregation of endemic congenital hypothyroidism (CH) in an iodine-deficient population from northern Congo (Democratic Republic (DR)) was analysed on data collected four decades ago (1979–1980). During a systematic survey of 62 families, 46 endemic CH subjects (44 myxedematous and 2 neurological) were identified based on clinical evidence within a village cohort of 468 subjects. A distribution analysis showed that two families presented significant excess of cases versus a random background distribution. Both families were characterised by two healthy parents having all of their five offspring affected by some form of endemic CH. Goitre prevalence in endemic CH was lower than that in the general population, while goitre prevalence in the unaffected part of the cohort (parents and siblings) was similar to that of the general population. Some unidentified genetic/epigenetic factor(s) could contribute to the evolution of some iodine-deficient hypothyroid neonates through irreversible and progressive loss of thyroid functional capacity during early childhood (<5 years old). Besides severe iodine deficiency, environmental exposure to thiocyanate overload and selenium deficiency, factors not randomly distributed within families and population, intervened in the full expression of endemic CH. Further exploration in the field will remain open, as iodine deficiency in Congo (DR) was eliminated in the 1990s. View Full-Text
Keywords: iodine deficiency; familial aggregation; endemic congenital hypothyroidism; endemic goitre; thyroid metabolism iodine deficiency; familial aggregation; endemic congenital hypothyroidism; endemic goitre; thyroid metabolism
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Weichenberger, C.X.; Rivera, M.T.; Vanderpas, J. Familial Aggregation of Endemic Congenital Hypothyroidism Syndrome in Congo (DR): Historical Data. Nutrients 2020, 12, 3021.

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