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Metadata
ID DOID:0111140
Name IGSF1 deficiency syndrome
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.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3915563/, https://www.ncbi.nlm.nih.gov/pubmed/23143598
Xrefs

ICD10CM:E03.1

OMIM:300888

ORDO:329235

Synonyms

central hypothyroidism and testicular enlargement [EXACT]

CHTE [EXACT]

X-linked central congenital hypothyroidism with late-onset macroorchidism [EXACT]

X-linked central congenital hypothyroidism with late-onset testicular enlargement [EXACT]

Parent Relationships

is_a syndrome

is_a X-linked recessive disease

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