scholarly journals Case Reports of Familial Non-autoimmune Hyperthyroidism in Two Malaysian Families due to Germline-activating Mutations in the Thyrotropin Receptor Gene

2020 ◽  
Vol 16 (1) ◽  
pp. 42
Author(s):  
Noor Shafina Mohd Nor ◽  
Wu Loo Ling ◽  
Johari Mohd Ali ◽  
◽  
◽  
...  
Keyword(s):  
Case Reports ◽  
Receptor Gene ◽  
Thyrotropin Receptor ◽  
Activating Mutations

scholarly journals Absence of common activating mutations of the epidermal growth factor receptor gene in thyroid cancers from American and Japanese patients

2011 ◽  
Vol 130 (9) ◽  
pp. 2215-2217 ◽  
Author(s):  
Julio C. Ricarte-Filho ◽  
Michiko Matsuse ◽  
Christopher Lau ◽  
Mabel Ryder ◽  
Eijun Nishihara ◽  
...  
Keyword(s):  
Epidermal Growth Factor Receptor ◽  
Growth Factor ◽  
Epidermal Growth Factor ◽  
Receptor Gene ◽  
Growth Factor Receptor ◽  
Japanese Patients ◽  
Thyroid Cancers ◽  
Activating Mutations ◽  
Epidermal Growth

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.

scholarly journals Update on the etiology, diagnosis and therapeutic management of sexual precocity

2008 ◽  
Vol 52 (1) ◽  
pp. 18-31 ◽  
Author(s):  
Vinicius Nahime Brito ◽  
Ana Claudia Latronico ◽  
Ivo J. P. Arnhold ◽  
Berenice Bilharinho Mendonça
Keyword(s):  
Precocious Puberty ◽  
Sex Steroids ◽  
Therapeutic Option ◽  
Receptor Gene ◽  
Pubertal Development ◽  
Protein A ◽  
Activating Mutations ◽  
Sexual Precocity ◽  
Gonadotropic Axis ◽  
Hormonal Evaluation

Precocious puberty is defined as the development of secondary sexual characteristics before the age of 8 years in girls and 9 years in boys. Gonadotropin-dependent precocious puberty (GDPP) results from the premature activation of the hypothalamic-pituitary-gonadal axis and mimics the physiological pubertal development, although at an inadequate chronological age. Hormonal evaluation, mainly through basal and GnRH-stimulated LH levels shows activation of the gonadotropic axis. Gonadotropin-independent precocious puberty (GIPP) is the result of the secretion of sex steroids, independently from the activation of the gonadotropic axis. Several genetic causes, including constitutive activating mutations in the human LH-receptor gene and activating mutations in the Gs protein a-subunit gene are described as the etiology of testotoxicosis and McCune-Albright syndrome, respectively. The differential diagnosis between GDPP and GIPP has direct implications on the therapeutic option. Long-acting gonadotropin-releasing hormone (GnRH) analogs are the treatment of choice in GDPP. The treatment monitoring is carried out by clinical examination, hormonal evaluation measurements and image studies. For treatment of GIPP, drugs that act by blocking the action of sex steroids on their specific receptors (cyproterone, tamoxifen) or through their synthesis (ketoconazole, medroxyprogesterone, aromatase inhibitors) are used. In addition, variants of the normal pubertal development include isolated forms of precocious thelarche, precocious pubarche and precocious menarche. Here, we provide an update on the etiology, diagnosis and management of sexual precocity.

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

scholarly journals A Somatic Gain-of-Function Mutation in the Thyrotropin Receptor Gene Producing a Toxic Adenoma in an Infant

Thyroid ◽  
2009 ◽  
Vol 19 (2) ◽  
pp. 187-191 ◽  
Author(s):  
Brenda Kohn ◽  
Helmut Grasberger ◽  
Leslie L. Lam ◽  
Alfonso Massimiliano Ferrara ◽  
Samuel Refetoff
Keyword(s):  
Receptor Gene ◽  
Thyrotropin Receptor ◽  
Toxic Adenoma ◽  
Gain Of Function

Analysis of Mutations in Exon 1 of the Human Thyrotropin Receptor Gene: High Frequency of the D36H and P52T Polymorphic Variants

Thyroid ◽  
1999 ◽  
Vol 9 (1) ◽  
pp. 7-11 ◽  
Author(s):  
JAANA SIMANAINEN ◽  
AMELIE KINCH ◽  
KERSTIN WESTERMARK ◽  
BRITA WINSA ◽  
MATS BENGTSSON ◽  
...  
Keyword(s):  
High Frequency ◽  
Receptor Gene ◽  
Thyrotropin Receptor ◽  
Exon 1 ◽  
Polymorphic Variants
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