Central hypothyroidism and testicular enlargement is an x-linked recessive disorder caused by mutations of the IGSF1 gene. Apart from TSH secretion other pituitary functions are impaired.
Central hypothyroidism | ||||
Central hypothyroidism and testicular enlargement | ||||
IGSF1 | ||||
Generalized thyrotropin-releasing hormone resistance | ||||
Thyrotropin-releasing hormone deficiency | ||||
1. |
Sun Y et al. (2012) Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement. |
2. |
Orphanet article Orphanet ID 226298 |
3. |
OMIM.ORG article Omim 300888 |