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

This condition is an X-linked recessive syndrome caused by changes in the IGSF1 gene. It affects hormone production in the brain, leading to central hypothyroidism. Central hypothyroidism means that the thyroid gland does not receive proper signals to produce enough thyroid hormone. People with this condition may also experience enlarged testes (macroorchidism), delayed puberty, and differences in prolactin levels. It is a rare genetic disorder, and understanding is still evolving as more is learned about its effects on growth and development.

Common signs of this condition include central hypothyroidism, which can affect metabolism, energy, and growth. Many individuals may show signs of enlarged testes (macroorchidism) during adolescence or later. There may also be a delay in the onset of puberty along with variable levels of prolactin, a hormone important for different body functions.

This condition is caused by loss-of-function mutations in the IGSF1 gene. It follows an X-linked recessive pattern, which means that the gene change is carried on the X chromosome. Because males have one X chromosome, they are more likely to show the symptoms if the mutation is present.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.