| Genetic condition | Gene implicated | Inheritance | Clinical features |
|---|---|---|---|
| X-LAG | GPR101 | X-linked dominant or sporadic | Mostly females Age <5 years Hyperprolactinemia at diagnosis Can be de-novo and family history may be absent |
| Familial isolated pituitary adenoma | AIP | Autosomal dominant or sporadic | Younger males Higher GH levels Poor response to SSA therapy |
| MEN1 | MEN1 | Autosomal dominant or sporadic | Presence of primary hyperparathyroidism, pancreatic disease along with pituitary adenoma |
| MEN4 | CDKN1B | Autosomal dominant | Presence of pituitary and parathyroid neoplasms with pheochromocytomas, thyroid and other tumors |
| Carney complex | PRKAR1A | Autosomal dominant | Skin pigmentation, Atrial myxoma, GH or PRL excess, Cushing’s due to primary pigmented nodular adrenocortical disease Somatrotroph hyperplasia or multifocal adenoma |
| Mc Cune Albright | GNAS | Autosomal dominant or sporadic | Average age of diagnosis 23 years Acromegaly seen in 20-30% cases Hyperprolactinemia present at diagnosis Café-au-lait spots Peripheral Precocious puberty Somatrotroph hyperplasia |
| SDH mutation | SDHx | Autosomal dominant or sporadic | Phaeochromocytoma, paraganglioma and primary hyperparathyroidism present |
| Neurofibromatosis | NF1 | Autosomal dominant | Few case reports of children and adolescents with optic glioma, rarely adenoma reported Mechanisms unclear |
From: Acromegaly
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