Multiple endocrine neoplasias D44.8

Hereditary disorder with multiple occurrences of different endocrine active adenomas (apudomas) originating from the apud cells and their inadequately increased hormone production. At least 3 different clinical syndromes are described:

• Multiple endocrine neoplasia 1 (MEN 1/Wermer syndrome)
• Multiple endocrineneoplasia 2A (MEN 2A/ Sipple syndrome)
• Multiple endocrine neoplasia3(MEN 3 -formerly known as MEN 2b or Gorlin syndrome)
• Multiple endocrineneoplasia 4 (MEN 4): Few cases described to date. Primary hyperparathyroidism (80%), pituitary adenomas (40%), rarely other tumors.

Autosomal dominant inheritance of genetic defects with alterations of proto-oncogenes and tumor suppressor genes:

The gene for MEN 1(MEN1 gene)has been localized on chromosome 11 in region 11q13.

The gene for MEN 2a has been localized on chromosome 10q11(RET proto-oncogene) (for the gene for MEN 2a it has been shown that different phenotypes occur depending on the localization of the mutations of the RET gene).

The gene for autosomal dominant MEN 3 syndrome(PTCH1 gene) is localized on chromosome 9q22.3.

The gene for MEN 4 in MEN is the MEN-1 gene, which is located on chromosome 11q13.

If the presence of "multiple endocrine neoplasia" is suspected, always arrange for family examinations.

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