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

MONDO:0010475

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.

Also known as: CHTE, IGSF1 deficiency syndrome, Immunoglobulin superfamily member 1 deficiency syndrome, X-linked central congenital hypothyroidism with late-onset macroorchidism, X-linked central congenital hypothyroidism with late-onset testicular enlargement, hypothyroidism Central and testicular enlargement, hypothyroidism, central, and testicular enlargement, X-linked recessive, hypothyroidism, central, and testicular enlargement

26 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Hereditary disease (172) Thyroid gland disorder (81) Endocrine system disorder (61) Hypothyroidism (36) Syndromic disease (24) Hereditary endocrine growth disease (23) X-linked disease (16) Human disease (14) Congenital hypothyroidism (9)
Trials to join now! 11 Not yet recruiting 5 Not yet finished but already full! 4 Completed 6
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