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• W2053878400 abstract "<b><i>Background/Aims:</i></b> Central hypothyroidism (CH) in children is rare and may be due to a variety of genetic defects. Most of these defects, but not all, are associated with additional pituitary hormone deficits. In a young child presenting with CH, it is important to determine whether additional pituitary hormone deficiencies are present, but this may be difficult to establish clinically. <b><i>Methods:</i></b> We describe the clinical characteristics of two young siblings, aged 6 months and 2 years, presenting with isolated CH. Whole exome sequencing was performed to determine the genetic basis of isolated CH. <b><i>Results:</i></b> A homozygous frameshift mutation of <i>PROP1</i> (296delGA) was identified in both probands. Defects in <i>PROP1</i> cause progressive deficiency of multiple pituitary hormones. Based on this genetic diagnosis, further clinical testing was performed that demonstrated growth hormone deficiency in one sibling. <b><i>Conclusions:</i></b> PROP1 deficiency may present as isolated CH at a very young age. In disorders with multiple potential causative genes, whole exome sequencing may facilitate rapid genetic diagnosis and lead to important changes in clinical management." @default.
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• W2053878400 date "2013-01-01" @default.
• W2053878400 modified "2023-09-30" @default.
• W2053878400 title "Isolated Central Hypothyroidism in Young Siblings as a Manifestation of PROP1 Deficiency: Clinical Impact of Whole Exome Sequencing" @default.
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• W2053878400 doi "https://doi.org/10.1159/000350013" @default.
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