scholarly journals A Japanese family with nonautoimmune hyperthyroidism caused by a novel heterozygous thyrotropin receptor gene mutation

2014 ◽  
Vol 75 (6) ◽  
pp. 749-753 ◽  
Author(s):  
Akie Nakamura ◽  
Shuntaro Morikawa ◽  
Hayato Aoyagi ◽  
Katsura Ishizu ◽  
Toshihiro Tajima
Keyword(s):  
Gene Mutation ◽  
Receptor Gene ◽  
Thyrotropin Receptor ◽  
Japanese Family

A nonsense thyrotropin receptor gene mutation (R609X) is associated with congenital hypothyroidism and heart defects

2014 ◽  
Vol 0 (0) ◽  
Author(s):  
Hakan Cangul ◽  
Veysel N. Bas ◽  
Yaman Saglam ◽  
Michaela Kendall ◽  
Timothy G. Barrett ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Congenital Hypothyroidism ◽  
Heart Defects ◽  
Receptor Gene ◽  
Thyrotropin Receptor

The Coexistence of a Novel Inactivating Thyrotropin Receptor Gene Mutation with Two Thyroid Peroxidase Mutations: A Genotype-Phenotype Correlation

2011 ◽  
pp. P3-609-P3-609
Author(s):  
Chutintorn Sriphrapradang ◽  
Yardena Tenenbaum-Rakover ◽  
Mia Weiss ◽  
Marla S Barkoff ◽  
Osnat Admoni ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Receptor Gene ◽  
Thyroid Peroxidase ◽  
Thyrotropin Receptor ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation

scholarly journals MON-264 Familial Neonatal Nonautoimmune Hyperthyroidism Due To A Thyrotropin Receptor Gene Mutation (A619G).

2019 ◽  
Vol 3 (Supplement_1) ◽  
Author(s):  
Doris Taha ◽  
Amita Adhikari ◽  
Rajeev Thirunagari ◽  
Rajan Senguttuvan ◽  
Leigh Anne Flore
Keyword(s):  
Gene Mutation ◽  
Receptor Gene ◽  
Thyrotropin Receptor

Premature birth and low birth weight associated with nonautoimmune hyperthyroidism due to an activating thyrotropin receptor gene mutation

2004 ◽  
Vol 60 (6) ◽  
pp. 711-718 ◽  
Author(s):  
Bijay Vaidya ◽  
Viv Campbell ◽  
John H. Tripp ◽  
Gill Spyer ◽  
Andrew T. Hattersley ◽  
...  
Keyword(s):  
Birth Weight ◽  
Low Birth Weight ◽  
Gene Mutation ◽  
Premature Birth ◽  
Receptor Gene ◽  
Thyrotropin Receptor

SCREENING OF FSH RECEPTOR GENE MUTATION (C566T) IN AZOOSPERMIC MEN IN JAPAN

2006 ◽  
Vol 52 (1) ◽  
pp. 15-19 ◽  
Author(s):  
T. Ishikawa ◽  
M. Fujisawa ◽  
J. Tapanainen
Keyword(s):  
Gene Mutation ◽  
Receptor Gene ◽  
Fsh Receptor ◽  
Fsh Receptor Gene

scholarly journals Individuals with isolated congenital GH deficiency due to a GHRH receptor gene mutation appear to cope better with SARS-CoV-2 infection than controls

Endocrine ◽  
2021 ◽  
Author(s):  
Manuela A. Melo ◽  
Lysandro P. Borges ◽  
Roberto Salvatori ◽  
Daniela R. V. Souza ◽  
Hertz T. Santos-Júnior ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Gh Deficiency ◽  
Receptor Gene ◽  
Ghrh Receptor

scholarly journals Spontaneous Ovarian Hyperstimulation Syndrome with FSH Receptor Gene Mutation: Two Rare Case Reports

2018 ◽  
Vol 2018 ◽  
pp. 1-5 ◽  
Author(s):  
Emsal Pinar Topdagi Yilmaz ◽  
Omer Erkan Yapca ◽  
Yunus Emre Topdagi ◽  
Seray Kaya Topdagi ◽  
Yakup Kumtepe
Keyword(s):  
Gene Mutation ◽  
Ovarian Hyperstimulation Syndrome ◽  
Case Reports ◽  
Receptor Gene ◽  
First Trimester ◽  
Fsh Receptor ◽  
Ovarian Hyperstimulation ◽  
Ovulatory Cycle ◽  
Fshr Gene ◽  
Stimulating Hormone

Development of ovarian hyperstimulation syndrome (OHSS) is very rare in a spontaneous ovulatory cycle and it is usually seen during pregnancy. In the etiology of OHSS, higher hCG (molar pregnancies or multiple pregnancies) and thyroid-stimulating hormone (TSH) levels have been accused. In recent years, some follicle-stimulating hormone (FSH) receptor (FSHR) gene mutations have been described in patients with OHSS in the first trimester with normal hCG levels. Herein, we report two cases of FSHR gene mutation during the investigation of the etiology of spontaneous OHSS. Although OHSS is typically associated with ovulation induction, it should be kept in mind that this condition may also develop in spontaneous pregnancies.

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