The syndrome of central hypothyroidism and macroorchidism: IGSF1 controls TRHR and FSHB expression by differential modulation of pituitary TGFβ and Activin pathways-Reference-Cited by-同舟云学术

The syndrome of central hypothyroidism and macroorchidism: IGSF1 controls TRHR and FSHB expression by differential modulation of pituitary TGFβ and Activin pathways

Published:2017-03 Issue:1 Volume:7 Page:
ISSN:2045-2322
Container-title:Scientific Reports
language:en
Short-container-title:Sci Rep

Author:

García Marta,Barrio Raquel,García-Lavandeira Montserrat,Garcia-Rendueles Angela R.,Escudero Adela,Díaz-Rodríguez Esther,Gorbenko Del Blanco Darya,Fernández Ana,de Rijke Yolanda B.,Vallespín Elena,Nevado Julián,Lapunzina Pablo,Matre Vilborg,Hinkle Patricia M.,Hokken-Koelega Anita C. S.,de Miguel María P.,Cameselle-Teijeiro José Manuel,Nistal Manuel,Alvarez Clara V.,Moreno José C.

Publisher

Springer Science and Business Media LLC

Subject

Multidisciplinary

Link

http://www.nature.com/articles/srep42937.pdf

Reference77 articles.

1. Garcia, M., Fernandez, A. & Moreno, J. C. Central hypothyroidism in children. Endocr Dev. 26, 79–107 (2014).

2. Persani, L. Clinical review: Central hypothyroidism: pathogenic, diagnostic, and therapeutic challenges. J. Clin. Endocrinol. Metab. 97, 3068–3078 (2012).

3. Barrio, R. et al. TSH deficiency and macroorchidism: clinical description of a novel phenotype of central hypothyroidism. Horm. Res 72, 309 (2009).

4. Sun, Y. et al. Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement. Nat. Genet. 44, 1375–1381 (2012).

5. Hughes, J. N. et al. Identification of an IGSF1-specific deletion in a five-generation pedigree with X-linked Central Hypothyroidism without macroorchidism. Clin. Endocrinol. (Oxf) 85, 609–615 (2016).

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