X-linked central congenital hypothyroidism with late-onset testicular enlargement
An X-linked recessive syndrome caused by loss-of-function mutation(s) in IGSF1, encoding immunoglobulin superfamily member 1. This condition can result in central hypothyroidism, macroorchidism, delayed puberty, and variable prolactin deficiency.
MONDO:0000425
X-linked disease
is_a
MONDO:0002254
syndromic disease
is_a
MONDO:0016410
central congenital hypothyroidism
is_a
CHTE
exact
IGSF1 deficiency syndrome
exact
Immunoglobulin superfamily member 1 deficiency syndrome
exact
X-linked central congenital hypothyroidism with late-onset macroorchidism
exact
X-linked central congenital hypothyroidism with late-onset testicular enlargement
exact
hypothyroidism Central and testicular enlargement
exact
hypothyroidism, central, and testicular enlargement
related
hypothyroidism, central, and testicular enlargement, X-linked recessive
exact