Daniel Bernard, Jan Wit, Mehul Dattani, Krishna Chatterjee and colleagues show that mutations in IGSF1 cause a new X-linked syndrome characterized by central hypothyroidism and testicular enlargement. Their findings implicate IGSF1 as a positive regulator of thyrotropin-releasing hormone signaling in the anterior pituitary.
- Yu Sun
- Beata Bak
- Daniel J Bernard
