FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term IGSF1 deficiency syndrome ID (Ontology) DOID:0111140 (Human Disease)
Definition A syndrome 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.
Also Known As "central hypothyroidism and testicular enlargement" ; "CHTE" ; "X-linked central congenital hypothyroidism with late-onset macroorchidism" (for all, see Synonyms field below)
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X-linked monogenic disease
 |__X-linked recessive disease__
disease                         |
 |__syndrome____________________|
                                IGSF1 deficiency syndrome
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Is a X-linked recessive disease
syndrome
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Synonyms
  • "central hypothyroidism and testicular enlargement" EXACT
    "CHTE" EXACT OMO:0003012
    "X-linked central congenital hypothyroidism with late-onset macroorchidism" EXACT
    "X-linked central congenital hypothyroidism with late-onset testicular enlargement" EXACT
Secondary IDs
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ICD10CM:E03.1
MIM:300888
ORDO:329235