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...
| Main Authors: | , , , , , |
|---|---|
| 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 |