Disease ID | Source | Name | Description |
300888 | OMIM | Hypothyroidism, central, and testicular enlargement (CHTE) | A disorder characterized by insufficient thyroid gland stimulation by thyroid stimulating hormone (TSH), resulting from hypothalamic and/or pituitary dysfunction. CHTE patients have delayed testosterone increase at puberty with normal testosterone levels in adulthood, normal testicular volume in childhood and enlarged testicles in adulthood. The disease is caused by variants affecting the gene represented in this entry. |