Identification of a novel IGSF1 variant in two Malaysian malesiblings with central hypothyroidism and macroorchidism

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Identification of a novel IGSF1 variant in two Malaysian malesiblings with central hypothyroidism and macroorchidism

Introduction IGSF1 mutation is the commonest cause of mild to moderate isolated central congenital hypothyroidism and has an X-linked recessive inheritance, primarily affecting males. Other notable clinical features are macroorchidism with delayed pubertal testosterone rise, large birth weight, incr...

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Bibliographic Details
Main Authors:	Lee, Yee Lin, Ting, Tzer Hwu, Lim, Chong Teik, Thilakavathy, Karuppiah, Musa, Nurul Huda, Ling, King Hwa
Format:	Article
Language:	English
Published:	Galenos Yayinevi 2024
Online Access:	http://psasir.upm.edu.my/id/eprint/116166/ http://psasir.upm.edu.my/id/eprint/116166/1/116166.pdf

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