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

Findings

No curated finding names X-linked central congenital hypothyroidism with late-onset testicular enlargement yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Inheritance

X-linked recessive inheritance

HPO, annotations 2026-09-02

What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

Where it sits

A kind of

• central congenital hypothyroidism
• syndromic disease
• X-linked disease

Resolves to: X-linked central congenital hypothyroidism with late-onset testicular enlargement

Also called

CHTEhypothyroidism Central and testicular enlargementhypothyroidism, central, and testicular enlargement, X-linked recessiveIGSF1 deficiency syndromeImmunoglobulin superfamily member 1 deficiency syndromeX-linked central congenital hypothyroidism with late-onset macroorchidism