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: | , , , , , |
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| Format: | Article |
| Published: |
Galenos Yayinevi
2024
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| Online Access: | http://psasir.upm.edu.my/id/eprint/116196/ |