Immunoglobulin Superfamily Member 1 Deficiency Syndrome

**Semantic type:** Disease or Syndrome

**Definition:** 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.

**Synonyms:** - Hypothyroidism Central and Testicular Enlargement