Article
Four new cases of congenital secondary hypothyroidism due to a splice site mutation in the thyrotropin-beta gene: phenotypic variability and founder effect.
The Journal of clinical endocrinology and metabolism - 1 Aug 2004
Borck Guntram, Topaloglu A Kemal, Korsch Eckhard, Martiné Ursula, Wildhardt Gabriele, Onenli-Mungan Neslihan, Yuksel Bilgin, Aumann Ulrich, Koch Gerhard, Ozer Guler, Pfäffle Roland, Scherberg Neal H, Refetoff Samuel, Pohlenz Joachim
Abstract excerpt
Isolated TSH deficiency is a rare cause of congenital hypothyroidism. We here report four children from two consanguineous Turkish families with isolated TSH deficiency. Affected children who were screened at newborn age had an unremarkable TSH result and a low serum TSH level at diagnosis. Age at diagnosis and clinical phenotype were variable. All affected children carried an identical homozygous splice site...
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