Isolated Central Hypothyroidism in Young Siblings as a Manifestation of PROP1 Deficiency: Clinical Impact of Whole Exome Sequencing | Zendy

Ari J. Wassner | Zendy; Laurie E. Cohen | Zendy; Eliana Hechter | Zendy; Andrew Dauber | Zendy

Open Access

Isolated Central Hypothyroidism in Young Siblings as a Manifestation of PROP1 Deficiency: Clinical Impact of Whole Exome Sequencing

Author(s) -

Ari J. Wassner,

Laurie E. Cohen,

Eliana Hechter,

Andrew Dauber

Publication year - 2013

Publication title -

hormone research in paediatrics

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.816

H-Index - 89

eISSN - 1663-2826

pISSN - 1663-2818

DOI - 10.1159/000350013

Subject(s) - exome sequencing , medicine , central hypothyroidism , congenital hypothyroidism , proband , endocrinology , hypopituitarism , frameshift mutation , growth hormone deficiency , mutation , hormone , thyroid , genetics , biology , growth hormone , gene

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.

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