IGSF1 deficiency syndrome (Q50349806)
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X-linked disease characterized by hypothyroidism that is present at birth, delayed testosterone increase in puberty, and testicular enlargement in adulthood that has material basis in mutation of the IGSF1 gene on chromosome Xq26
- X-linked central congenital hypothyroidism with late-onset testicular enlargement
- central hypothyroidism and testicular enlargement
- HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT
- X-linked central congenital hypothyroidism with late-onset macroorchidism
- CHTE
- HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT; CHTE
Language | Label | Description | Also known as |
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English | IGSF1 deficiency syndrome |
X-linked disease characterized by hypothyroidism that is present at birth, delayed testosterone increase in puberty, and testicular enlargement in adulthood that has material basis in mutation of the IGSF1 gene on chromosome Xq26 |
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Sitelinks
Wikipedia(1 entry)
- dewiki IGSF1-Mangelsyndrom