History and exam
Key diagnostic factors
common
presence of risk factors
Key risk factors include multiple endocrine neoplasia type 1, familial isolated pituitary adenomas, and Carney complex.
long-standing and progressing symptoms
Most symptoms of pituitary adenomas can be long-standing and slow in progression.
headaches
Headaches can be non-specific.
erectile dysfunction
Symptom of hypogonadism.
soft small testicles
Symptom of hypogonadism.
gynaecomastia
Symptom of hypogonadism.
amenorrhoea
Symptom of hypogonadism.
infertility
Symptom of hypogonadism.
breast atrophy
Symptom of hypogonadism.
loss of libido
Symptom of hypogonadism.
hot flushes
Symptom of hypogonadism.[47]
diaphoresis
Symptom of hypogonadism.[47]
weight gain
Symptom of hypothyroidism.
fatigue
Symptom of hypothyroidism, hypogonadism, and adrenal insufficiency. Reduced energy and vitality can be a symptom of growth hormone deficiency.
anorexia
Symptom of adrenal insufficiency.
nausea
Symptom of adrenal insufficiency.
vomiting
Symptom of adrenal insufficiency.
weakness
Symptom of adrenal insufficiency.
decreased visual acuity
Patients may present with decreased visual acuity before complaining of a visual cut such as bitemporal hemianopia.
bitemporal hemianopia
A superior temporal quadrantanopia with red desaturation (dimmer perception of the colour red) is usually the earliest clinical feature of chiasmal pressure.
uncommon
pituitary apoplexy
Acute onset of severe headache, associated with nausea, vomiting, meningismus, altered level of consciousness, ophthalmoplegia, hypotension in acute adrenal crisis.
diplopia
Diplopia and facial numbness secondary to cranial nerve palsies affecting the third, fourth, fifth (V1 and V2), and sixth nerves.
Other diagnostic factors
common
increased central adiposity
Sign of growth hormone deficiency and hypogonadism.
reduced muscle mass
Symptom of hypogonadism in men, and of growth hormone deficiency in men and women.
constipation
Symptom of hypothyroidism.
cold intolerance
Symptom of hypothyroidism.
dry skin
Symptom of hypothyroidism.
hair loss
Symptom of hypothyroidism.
poor memory
Symptom of hypothyroidism, growth hormone deficiency, and hypothalamic extension of the tumour.
low mood
Symptom of hypothyroidism and hypogonadism.
osteopenia
Associated with hypogonadism or growth hormone deficiency.
uncommon
weight loss
Symptom of adrenal insufficiency.
nervousness
Symptom of adrenal insufficiency; not typical but has been reported to be found more frequently in patients with adrenal insufficiency.[48]
facial numbness
Diplopia and facial numbness secondary to cranial nerve palsies affecting the third, fourth, fifth (V1 and V2), and sixth nerves.
imbalance
Associated with tumour growth in the third ventricle resulting in hydrocephalus or can be associated with postural hypotension from secondary adrenal insufficiency.
urinary incontinence
Associated with tumour growth in the third ventricle or secondary to diabetes insipidus.
recurrent sinusitis
May result from growth in the sphenoid sinus.
bradycardia
Sign of hypothyroidism.
seizures
May occur secondary to metabolic dysfunction (such as hyponatraemia and hypoglycaemia) resulting from adrenal insufficiency or from temporal lobe involvement.
Risk factors
strong
multiple endocrine neoplasia type 1 (MEN-1)
Multiple endocrine neoplasia type 1 (MEN-1) is an autosomal dominant condition associated with pituitary adenomas in 40% to 60% of patients. There is a germline mutation in MEN-1 gene on chromosome 11q13. The MEN-1 gene product is menin, which is a regulatory protein and interacts with a broad range of targets. MEN-1 may be associated with non-functional or functional pituitary tumours, among which prolactinoma is the most common. In about 10% of patients with MEN-1, no gene mutation is identified. Female sex is associated with increased risk of having a pituitary tumour. Pituitary adenomas in MEN-1 are mostly macro-adenomas at presentation and tend to be more aggressive.[31]
familial isolated pituitary adenomas (FIPA)
Familial pituitary adenomas in the absence of MEN-1 and Carney complex are rare. However, a retrospective study of clinical characteristics of familial isolated pituitary adenomas at 22 centres across western Europe yielded 64 such kindreds, with 138 affected individuals. A first-degree relative is involved in about 75% of cases. Patients usually present at a younger age than sporadic cases and about 20% have non-functional pituitary adenomas.[32] Inactivating mutations involving the aryl hydrocarbon receptor interacting protein (AIP) gene have been described in FIPA.
Carney complex (CNC)
CNC is a rare familial condition characterised by lentigines, myxomas, Schwan cell tumours, adrenal hyperplasia, and pituitary abnormalities. CNC is associated with mutations in the protein kinase A 1-alpha regulatory subunit (PRKAR1A) gene in 60% of cases. Pituitary disease is characterised by hypersecretion of prolactin and growth hormone. Pituitary tumours occur in about 20% of cases and tend to exhibit somatomammotropin cell multifocal hyperplasia.[33]
Use of this content is subject to our disclaimer