Open AccessPartial Loss of Function of the GHRH Receptor Leads to Mild Growth Hormone Deficiency
Author(s) -
Louise Gregory,
Kyriaki S. Alatzoglou,
Mark J. McCabe,
P.C. Hindmarsh,
José W. Saldanha,
Nicola Romanò,
Paul Le Tissier,
Mehul Dattani
Publication year - 2016
Publication title -
the journal of clinical endocrinology and metabolism
Language(s) - English
Resource type - Journals
eISSN - 1945-7197
pISSN - 0021-972X
DOI - 10.1210/jc.2016-2254
Subject(s) - ighd , endocrinology , medicine , missense mutation , dwarfism , growth hormone deficiency , compound heterozygosity , biology , mutation , hormone , growth hormone , genetics , gene
Recessive mutations in GHRHR are associated with severe isolated growth hormone deficiency (IGHD), with a final height in untreated patients of 130 cm ± 10 cm (-7.2 ± 1.6 SDS; males) and 114 ± 0.7 cm (-8.3 ± 0.1 SDS; females).
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