Central hypothyroidism and testicular enlargement

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.

Systematic

Central hypothyroidism
	Central hypothyroidism and testicular enlargement
		IGSF1
	Generalized thyrotropin-releasing hormone resistance
	Thyrotropin-releasing hormone deficiency

References:

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