X-linked central congenital hypothyroidism with late-onset testicular enlargement
Name: |
X-linked central congenital hypothyroidism with late-onset testicular enlargement
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Description: |
X-linked central congenital hypothyroidism with late-onset testicular enlargement is a rare, genetic, endocrine disease characterized by central hypothyroidism, testis enlargement in adolescence resulting in adult macroorchidism, delayed pubertal testosterone rise with a subsequent delayed pubertal growth spurt, small thyroid gland, and variable prolactin and growth hormone deficiency.
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ORPHAcode: |
329235
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Synonyms: |
IGSF1 deficiency syndrome
X-linked central congenital hypothyroidism with late-onset macroorchidism
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XREF(s): | |
Analyte(s): | |
Created: |
13 May 2019 - 01:02
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Changed: |
22 Jun 2023 - 16:14
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