Investigations

1st investigations to order

serum electrolytes

Test
Result
Test

Electrolyte abnormalities are helpful in directing suspicion towards hormonal disorders.

Result

low sodium (in adrenocorticotrophic hormone and thyroid-stimulating hormone deficiency); elevated sodium (in diabetes insipidus)

serum and urine osmolarity

Test
Result
Test

Necessary for diagnosis of central diabetes insipidus.[32]

A low urine osmolarity in conjunction with high serum osmolarity strongly suggests diabetes insipidus.

Result

with high serum osmolarity (>295 mOsm/L), normal response is a high urine osmolarity (>600 mOsm/L); in diabetes insipidus, urine osmolarity is low (<300 mOsm/L)

8 a.m. cortisol and adrenocorticotrophic hormone

Test
Result
Test

Normal reference ranges vary depending on lab, time of collection, and assay. Cortisol more than or equal to 414 nanomol/L (15 micrograms/dL) suggests that basal adrenocorticotrophic hormone (ACTH) secretion is sufficient. An 8 a.m. cortisol level between 83 nanomol/L (3 micrograms/dL) and 414 nanomol/L (15 micrograms/dL) necessitates an ACTH stimulation test.[32]

Result

cortisol ≤83 nanomol/L (3 micrograms/dL) and inappropriately low ACTH

thyroid function tests

Test
Result
Test

Secondary hypothyroidism is associated with thyroid-stimulating hormone (TSH) of low bioactivity (normal TSH levels but reduced activity in stimulating thyroid hormone release). Therefore, TSH alone should not be used in screening for hypothyroidism in patients who have hypothalamic or pituitary disease.

Result

low free thyroxine (T4) and free triiodothyronine (T3); normal or low TSH

8 a.m. testosterone, follicle-stimulating hormone, and luteinising hormone in men

Test
Result
Test

All are low in secondary hypogonadism.

Gonadotrophin-releasing hormone stimulation test (rarely used) may not provide any additional information in adults.[50]

Measurement of free or bioavailable testosterone levels is useful in patients with total testosterone levels near the lower limit of normal or if sex hormone-binding globulin abnormalities are suspected.[45]

A combination of symptoms and two low fasting morning testosterone levels is necessary to establish a diagnosis of late-onset hypogonadism.[45]

Testing should be performed in the absence of acute/subacute illness.[32]

Result

low

estradiol, follicle-stimulating hormone, and luteinising hormone in women

Test
Result
Test

Follicle-stimulating hormone and luteinising hormone may be low or inappropriately normal in secondary hypogonadism.

A normal menstrual cycle is a more sensitive indicator of an intact pituitary and normal gonadal function than any biochemical test.

Gonadotrophin-releasing hormone stimulation test (rarely used) does not provide any additional information in adults.[32][50]

In post-menopausal women not on hormone replacement therapy, the absence of high serum follicle-stimulating hormone and luteinising hormone is sufficient for a diagnosis of gonadotrophin deficiency.

Result

low

prolactin

Test
Result
Test

It is important to exclude high-dose hook effect (a laboratory test limitation that can result in an artificially low level of prolactin) in patients with macroadenomas with 1:10 dilution, or serial dilution of the prolactin specimen, as this assay limitation may lead to a falsely low level of prolactin.[51]

It is important to consider macroprolactinaemia caused by a circulating antibody producing an artificial elevation of prolactin that can be removed by polyethylene glycol precipitation prior to assay, as this may also cause a false elevation in prolactin levels.

Result

slightly elevated (due to stalk compression); higher if prolactinoma (macroadenoma) causing hypopituitarism

insulin-like growth factor-1

Test
Result
Test

Also known as somatomedin-C. Insulin-like growth factor-1 reflects growth hormone levels over time.

Reference ranges are age- and sex-specific.

May be low in malnutrition and chronic illness.

The Endocrine Society recommends against biochemical work-up for growth hormone deficiency in patients with obvious features of deficiency and three other documented pituitary hormone deficiencies.[32]

Result

low

cosyntropin/tetracosactide stimulation test

Test
Result
Test

250 micrograms of cosyntropin (synthetic ACTH 1-24) is administered intramuscularly or intravenously; serum cortisol levels are measured at 30 and 60 minutes.

Peak cortisol concentrations less than 500 nanomol/L (18.1 micrograms/dL) at 30 or 60 minutes indicate adrenal insufficiency.

Result

inadequate cortisol response

Investigations to consider

insulin tolerance test

Test
Result
Test

0.05 to 0.15 units of insulin/kg is administered intravenously and serum glucose, cortisol, and growth hormone (GH) are measured before and after 15, 30, 60, 90, and 120 minutes after injection.

In normal people, serum cortisol increases to ≥498 nanomol/L (18 micrograms/dL) if the serum glucose falls to <2.78 mmol/L (50 mg/dL).

A normal GH response is a peak of >5 micrograms/L in the setting of hypoglycaemia (glucose <2.78 mmol/L [50 mg/dL]). GH deficiency is present when the peak GH response is <3 micrograms/L.

Result

inadequate cortisol or GH response to the acute stress of hypoglycaemia

water deprivation and desmopressin response test

Test
Result
Test

Patients are deprived of fluids for 8 hours or until 5% loss of their body weight is reached.

Plasma osmolarity is measured every 4 hours and urine volume and osmolarity every 2 hours. Patients are then given desmopressin 2 micrograms intramuscularly, and serum osmolarity, as well as urine osmolarity and volume, are measured over the next 4 hours.

In patients with central diabetes insipidus, their kidneys respond to desmopressin and subsequently develop a concentrated urine.

False-negative results may be seen in patients with partial central diabetes insipidus who are hyper-responsive to the submaximal rise in antidiuretic hormone induced by water deprivation.

Alternatively, a saline infusion test may be performed.

Result

low paired urine and plasma osmolalities; low urinary sodium; low urine specific gravity (<1.005); large volumes of urine produced (>3 L/24 hours)

MRI pituitary

Test
Result
Test

Should only be performed after complete biochemical work-up, as there is a high prevalence of pituitary incidentalomas.[52]

Result

lesion in sellar or parasellar regions

CT pituitary

Test
Result
Test

Should only be performed after complete biochemical work-up and if a craniopharyngioma is suspected.

Result

calcification if craniopharyngioma present

metyrapone testing of the adrenal axis

Test
Result
Test

An alternative to the cosyntropin/tetracosactide stimulation test in the hospital setting. However, its use is limited by the difficulty in obtaining metyrapone.

Result

inadequate cortisol response

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