text: RNA splicing errors can have drastic effects on how proteins function, including the hormones secreted by the endocrine system. These effects on hormones have been identified as the cause of many endocrine disorders including thyroid-related pathological conditions, rickets, hyperinsulinemic hypoglycemia and congenital adrenal hyperplasia.  One specific example of a splicing error causing an endocrine disease that has been studied using minigenes is a type of growth hormone deficiency called isolated growth hormone deficiency (IGHD), a disease that results in growth failure. IGHD type II is an autosomal dominant form caused by a mutation in the intervening sequence (IVS) adjacent to exon 3 of the gene encoding growth hormone 1, the GH-1 gene. This mutated form of IVS3 causes exon 3 to be skipped in the mRNA product. The mRNA (-E3) encodes a truncated form of hGH that then inhibits normal hGH secretion.  Minigenes were used to determine that a point mutation within an intron splice enhancer (ISE) embedded in IVS3 was to blame for the skipping of E3.  Moreover, it was determined that the function of the ISE is influenced by a nearby transposable AC element, revealing that this particular splicing error is caused by a trans-acting factor.