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Quoted phrase not found in phrase index: "Hypothyroidism, congenital, nongoitrous, 5"
Page 1
Novel TSHR mutations in consanguineous families with congenital nongoitrous hypothyroidism.
Cangul H, Morgan NV, Forman JR, Saglam H, Aycan Z, Yakut T, Gulten T, Tarim O, Bober E, Cesur Y, Kirby GA, Pasha S, Karkucak M, Eren E, Cetinkaya S, Bas V, Demir K, Yuca SA, Meyer E, Kendall M, Hogler W, Barrett TG, Maher ER. Cangul H, et al. Clin Endocrinol (Oxf). 2010 Nov;73(5):671-7. doi: 10.1111/j.1365-2265.2010.03849.x. Clin Endocrinol (Oxf). 2010. PMID: 20718767
OBJECTIVE: Nonsyndromic autosomal recessively inherited nongoitrous congenital hypothyroidism (CHNG) can be caused by mutations in TSHR, PAX8, TSHB and NKX2-5. ...RESULTS: Homozygous germline TSHR mutations were detected in six families (5%), bu …
OBJECTIVE: Nonsyndromic autosomal recessively inherited nongoitrous congenital hypothyroidism (CHNG) can be caused by m …
Congenital hypothyroidism: from paracelsus to molecular diagnosis.
Djemli A, Van Vliet G, Delvin EE. Djemli A, et al. Clin Biochem. 2006 May;39(5):511-8. doi: 10.1016/j.clinbiochem.2006.03.015. Epub 2006 Apr 20. Clin Biochem. 2006. PMID: 16730255 Review.
An important landmark was the publication of a report in 1871 describing several cases of nongoitrous hypothyroidism that were clearly distinguished from the endemic form of the disease, for which the author suggested the designation of "sporadic cretinism." ...This …
An important landmark was the publication of a report in 1871 describing several cases of nongoitrous hypothyroidism that were …
Functional variants in a TTTG microsatellite on 15q26.1 cause familial nonautoimmune thyroid abnormalities.
Narumi S, Nagasaki K, Kiriya M, Uehara E, Akiba K, Tanase-Nakao K, Shimura K, Abe K, Sugisawa C, Ishii T, Miyako K, Hasegawa Y, Maruo Y, Muroya K, Watanabe N, Nishihara E, Ito Y, Kogai T, Kameyama K, Nakabayashi K, Hata K, Fukami M, Shima H, Kikuchi A, Takayama J, Tamiya G, Hasegawa T. Narumi S, et al. Nat Genet. 2024 May;56(5):869-876. doi: 10.1038/s41588-024-01735-5. Epub 2024 May 7. Nat Genet. 2024. PMID: 38714868 Free PMC article.
Here we performed a linkage analysis of a family with both nongoitrous congenital hypothyroidism and MNG and identified a signal at 15q26.1. Follow-up analyses with whole-genome sequencing and genetic screening in congenital hypothyroidism and M …
Here we performed a linkage analysis of a family with both nongoitrous congenital hypothyroidism and MNG and identified …
TSHR is the main causative locus in autosomal recessively inherited thyroid dysgenesis.
Cangul H, Aycan Z, Saglam H, Forman JR, Cetinkaya S, Tarim O, Bober E, Cesur Y, Kurtoglu S, Darendeliler F, Bas V, Eren E, Demir K, Kiraz A, Aydin BK, Karthikeyan A, Kendall M, Boelaert K, Shaw NJ, Kirk J, Högler W, Barrett TG, Maher ER. Cangul H, et al. J Pediatr Endocrinol Metab. 2012;25(5-6):419-26. doi: 10.1515/jpem-2012-0053. J Pediatr Endocrinol Metab. 2012. PMID: 22876533
Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder and results in mental retardation if untreated. ...In this study, we aimed to investigate the Mendelian (single-gene) causes of non-syndromic and non-goitrous congenital hypothyr …
Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder and results in mental retardation if untreated. …
Humoral thyroid autoimmunity is not involved in the pathogenesis of myxedematous endemic cretinism.
Chiovato L, Vitti P, Bendinelli G, Santini F, Fiore E, Tonacchera M, Mammoli C, Capaccioli A, Venturi S, Pretell E, et al. Chiovato L, et al. J Clin Endocrinol Metab. 1995 May;80(5):1509-14. doi: 10.1210/jcem.80.5.7744994. J Clin Endocrinol Metab. 1995. PMID: 7744994
IgG from 4 selected patients with autoimmune atrophic thyroiditis and from 2 neonates with sporadic transient congenital hypothyroidism due to maternal TSH-blocking antibodies were included in the study. ...In contrast to these results, IgG from patients with autoim …
IgG from 4 selected patients with autoimmune atrophic thyroiditis and from 2 neonates with sporadic transient congenital hypothyro …
The different requirement of L-T4 therapy in congenital athyreosis compared with adult-acquired hypothyroidism suggests a persisting thyroid hormone resistance at the hypothalamic-pituitary level.
Bagattini B, Cosmo CD, Montanelli L, Piaggi P, Ciampi M, Agretti P, Marco GD, Vitti P, Tonacchera M. Bagattini B, et al. Eur J Endocrinol. 2014 Nov;171(5):615-21. doi: 10.1530/EJE-14-0621. Eur J Endocrinol. 2014. PMID: 25305309
BACKGROUND: Levothyroxine (l-T4) is commonly employed to correct hormone deficiency in children with congenital hypothyroidism (CH) and in adult patients with iatrogenic hypothyroidism. ...The different requirement of replacement therapy between adult patient …
BACKGROUND: Levothyroxine (l-T4) is commonly employed to correct hormone deficiency in children with congenital hypothyroidism …
Transient neonatal 'athyreosis' resulting from thyrotropin-binding inhibitory immunoglobulins.
Connors MH, Styne DM. Connors MH, et al. Pediatrics. 1986 Aug;78(2):287-90. Pediatrics. 1986. PMID: 2874542
The mother was found to have potent TSH-binding inhibitory immunoglobulin (TBII) levels in her serum (85.5%). A fourth child with low thyroxine and elevated TSH was born to a mother on a regimen of l-thyroxine for hypothyroidism. 99mTc scan at 26 days of age showed …
The mother was found to have potent TSH-binding inhibitory immunoglobulin (TBII) levels in her serum (85.5%). A fourth child with low …