Testing of individual (proband) affected with endocrine abnormalities where the individual +/- family history meets one of the following criteria:
1. Multiple endocrine neoplasia type 1 (MEN1). The proband has:
a. Parathyroid multiglandular disease (hyperplasia/ adenomas) (<35 years), OR b. Any pituitary adenoma or insulinoma (< 20years), OR c. Pituitary macroadenoma (<30 years), OR d. ≥2 MEN1-related endocrine abnormalities (any age), OR e. ≥1 MEN1-related endocrine abnormality and ≥1 MEN1-related non-endocrine tumours (any age), OR f. ≥1 MEN1-related endocrine abnormality and a first degree relative has ≥1 MEN1-related endocrine abnormality MEN1-related endocrine abnormalities include: - Parathyroid hyperplasia/multiglandular adenomas - Pituitary tumors - Endocrine tumors of the gastro-entero-pancreatic (GEP) tract - Carcinoid tumors - Adrenocortical tumors MEN1-related non-endocrine tumours include: - facial angiofibromas - collagenomas - meningioma 2. Familial isolated pituitary adenoma (FIPA) • Isolated pituitary adenoma developing under the age of 35, with at least one first degree relative with an isolated pituitary adenoma 3. X-linked acrogigantism • Onset of excess of growth hormone diagnosed by age 20 years in male patients, with increased growth velocity and/or tall stature (height >2 standard deviations above the mean, or >3 standard deviations over mid-parental height)

• If testing on blood is negative and clinical suspicion of this diagnosis is strong, please contact the testing laboratory to discuss sending a fresh frozen tissue or skin biopsy sample to identify a mosaic form of the condition

Where a patient doesn’t meet the stated criteria but there is strong clinical suspicion of a monogenic predisposition to endocrine neoplasia, testing can go ahead after discussion in a specialist MDT meeting

Testing of individual (proband) affected with endocrine abnormalities where the individual +/- family history meets one of the following criteria:
1. Multiple endocrine neoplasia type 1 (MEN1). The proband has:
a. Parathyroid multiglandular disease (hyperplasia/ adenomas) (<35 years), OR b. Any pituitary adenoma or insulinoma (< 20years), OR c. Pituitary macroadenoma (<30 years), OR d. ≥2 MEN1-related endocrine abnormalities (any age), OR e. ≥1 MEN1-related endocrine abnormality and ≥1 MEN1-related non-endocrine tumours (any age), OR f. ≥1 MEN1-related endocrine abnormality and a first degree relative has ≥1 MEN1-related endocrine abnormality MEN1-related endocrine abnormalities include: - Parathyroid hyperplasia/multiglandular adenomas - Pituitary tumors - Endocrine tumors of the gastro-entero-pancreatic (GEP) tract - Carcinoid tumors - Adrenocortical tumors MEN1-related non-endocrine tumours include: - facial angiofibromas - collagenomas - meningioma 2. Familial isolated pituitary adenoma (FIPA) • Isolated pituitary adenoma developing under the age of 35, with at least one first degree relative with an isolated pituitary adenoma 3. X-linked acrogigantism • Onset of excess of growth hormone diagnosed by age 20 years in male patients, with increased growth velocity and/or tall stature (height >2 standard deviations above the mean, or >3 standard deviations over mid-parental height)

• If testing on blood is negative and clinical suspicion of this diagnosis is strong, please contact the testing laboratory to discuss sending a fresh frozen tissue or skin biopsy sample to identify a mosaic form of the condition

Where a patient doesn’t meet the stated criteria but there is strong clinical suspicion of a monogenic predisposition to endocrine neoplasia, testing can go ahead after discussion in a specialist MDT meeting