X-linked central congenital hypothyroidism with late-onset testicular enlargement is a rare genetic disorder caused by a mutation in the gene that codes for the thyroid stimulating hormone receptor (TSHR). This mutation results in a lack of thyroid hormone production, leading to hypothyroidism. In addition, affected individuals may experience late-onset testicular enlargement due to an increase in testosterone production. Treatment typically involves hormone replacement therapy.

The symptoms of X-linked central congenital hypothyroidism with late-onset testicular enlargement include:

-Delayed growth and development
-Low muscle tone
-Poor feeding
-Constipation
-Hoarse cry
-Large tongue
-Dry skin
-Hair loss
-Delayed puberty
-Enlarged testicles
-Delayed bone age
-Delayed speech and language development
-Intellectual disability

X-linked central congenital hypothyroidism with late-onset testicular enlargement is caused by mutations in the gene encoding the transcription factor, NKX2-5. This gene is responsible for the development of the thyroid gland and the testes. Mutations in this gene can lead to a decrease in thyroid hormone production, resulting in hypothyroidism, as well as delayed testicular enlargement.

Treatment for X-linked central congenital hypothyroidism with late-onset testicular enlargement typically involves hormone replacement therapy. This involves taking a daily dose of levothyroxine, a synthetic form of the thyroid hormone thyroxine, to replace the missing hormone. In addition, testosterone replacement therapy may be necessary to treat the late-onset testicular enlargement. This involves taking a daily dose of testosterone to replace the missing hormone. In some cases, surgery may be necessary to remove the enlarged testicles.

1. Male gender: X-linked central congenital hypothyroidism is an X-linked recessive disorder, meaning it is more commonly found in males.

2. Family history: If there is a family history of X-linked central congenital hypothyroidism, the risk of developing the disorder is increased.

3. Age: Late-onset testicular enlargement is more common in older males.

4. Exposure to certain environmental toxins: Exposure to certain environmental toxins, such as lead, can increase the risk of developing X-linked central congenital hypothyroidism with late-onset testicular enlargement.

There is no cure for X-linked central congenital hypothyroidism with late-onset testicular enlargement. However, medications can be used to manage the symptoms. These medications include levothyroxine, which is used to replace the missing thyroid hormone, and testosterone replacement therapy, which can help to reduce the size of the testicles. Additionally, lifestyle modifications such as a healthy diet and regular exercise can help to improve overall health and well-being.