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GTR Home > Conditions/Phenotypes > X-linked central congenital hypothyroidism with late-onset testicular enlargement

X-linked central congenital hypothyroidism with late-onset testicular enlargement

Synonyms
HYPOTHYROIDISM, CENTRAL, WITH TESTICULAR ENLARGEMENT; Hypothyroidism, central, and testicular enlargement
Modes of inheritance
X-linked recessive inheritance (Orphanet)

Summary

Central hypothyroidism and testicular enlargement (CHTE) is characterized by central hypothyroidism, delayed pubertal testosterone rise, adult macroorchidism, variable prolactin deficiency, and occasional transient partial GH deficiency. Some carrier females also exhibit central hypothyroidism and mild prolactin deficiency. Inter- and intrafamilial variability has been observed (summary by Joustra et al., 2016). [from OMIM]

Available tests

12 tests are in the database for this condition.

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Clinical tests (12 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CHTE, IGCD1, IGDC1, INHBP, PGSF2, p120, IGSF1
    Summary: immunoglobulin superfamily member 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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