A novel dominant negative mutation in the intracellular domain of GHR is associated with growth hormone insensitivity

Clin Endocrinol (Oxf). 2016 Oct;85(4):669-71. doi: 10.1111/cen.13116. Epub 2016 Jun 30.

Authors

Masaki Takagi^{1

2}, Hiroyuki Shinohara², Yuka Nagashima^{1

2}, Yukihiro Hasegawa², Satoshi Narumi¹, Tomonobu Hasegawa³

Affiliations

¹ Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
² Department of Endocrinology and Metabolism, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
³ Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan. thaseg@a6.keio.jp.

PMID: 27234692
DOI: 10.1111/cen.13116

No abstract available

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Age Determination by Skeleton
Body Mass Index
Child
Frameshift Mutation*
Genes, Dominant
Growth Disorders / blood
Growth Disorders / genetics*
Growth Hormone / therapeutic use
Hormone Replacement Therapy / methods
Human Growth Hormone / blood
Humans
Insulin-Like Growth Factor I / analysis*
Insulin-Like Growth Factor I / genetics
Male
Pituitary Hormones, Anterior
Receptors, Somatotropin / genetics*
Testis / anatomy & histology

Substances

IGF1 protein, human
Pituitary Hormones, Anterior
Receptors, Somatotropin
Human Growth Hormone
Insulin-Like Growth Factor I
Growth Hormone