Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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.

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2.

Orphanet article

Orphanet ID 226298 [^]
3.

OMIM.ORG article

Omim 300888 [^]
Update: April 29, 2019