eMedicine Specialties > Pediatrics: General Medicine > Endocrinology
Gigantism and Acromegaly: Differential Diagnoses & Workup
Updated: Jul 1, 2008
- Overview
- Differential Diagnoses & Workup
- Treatment & Medication
- Follow-up
- Multimedia
Differential Diagnoses
| Beckwith-Wiedemann Syndrome | Marfan Syndrome |
| Congenital Adrenal Hyperplasia | McCune-Albright Syndrome |
| Fragile X Syndrome | Precocious Pseudopuberty |
| Hyperinsulinemia | Precocious Puberty |
Other Problems to Be Considered
Familial tall stature
Exogenous obesity
Cerebral gigantism (Sotos syndrome) from NSD1 gene mutation or other causes
Weaver syndrome
Estrogen receptor mutation
Workup
Laboratory Studies
- Serum IGF-I determination is a sensitive screening test for acromegaly.
- An excellent linear dose-response correlation between serum IGF-I levels and 24-hour integrated GH secretion has been demonstrated. Elevated IGF-I values in a patient whose symptoms prompt appropriate clinical suspicion almost always indicates GH excess.
- Potential confusion may arise in the evaluation of healthy adolescents because IGF-I levels can be substantially higher during puberty than during adulthood. Always compare the patient's measurement with age-matched and sex-matched IGF-I reference ranges published in the literature or established for the specific testing laboratory.
- A single GH measurement is inadequate. Because GH is secreted in a pulsatile manner, use of a random GH measurement can lead to a false-positive or false-negative result.
- The free serum IGF-I level can also be diagnostic, but testing this level not necessary because this test is relatively expensive and unavailable to most clinicians.
- An elevated serum insulin-like growth factor binding protein-3 (IGFBP-3) level may suggest the diagnosis of GH excess, although the diagnostic use of IGFBP-3 results for gigantism requires further study. In patients with confirmed somatotroph adenomas, increased IGFBP-3 levels are reported to be a sensitive marker of GH elevations and may be elevated even if total IGF-I levels are in the reference range.
- An inability to suppress serum GH level during an oral glucose-tolerance test (OGTT) is the criterion standard for diagnosing GH excess. Failure to suppress serum GH levels to less than 5 ng/dL within 3 hours after a 1.75-g/kg oral glucose challenge (not to exceed 75 g) is diagnostic of pituitary GH excess.
Imaging Studies
- If laboratory findings suggest GH excess, obtain an MRI to confirm the presence of a pituitary adenoma. In rare cases, a pituitary mass may not be identified because of an occult pituitary microadenoma or an ectopic tumor.
- CT scanning is an acceptable imaging study if MRI is unavailable.
- Chest or abdominal imaging may reveal the rare ectopic GH-secreting or GHRH-secreting tumor.
Other Tests
- Although testing with an intravenous administration of thyrotropin-releasing hormone (TRH) is not necessary to make the diagnosis, 50-80% of patients with GH excess have a paradoxic rise in GH levels after the challenge.
- Circulating GHRH blood levels may confirm peripheral ectopic GHRH secretion in the presence of an ectopic tumor. However, in the presence of a hypothalamic GHRH-secreting tumor, circulating GHRH levels may be normal.
Histologic Findings
- Mammosomatotrophs are the most common type of GH-secreting cells involved in childhood gigantism.
- Coexistence of both GH and PRL in the secretory granules of the tumor cells is clearly demonstrated on immunohistochemical staining.
More on Gigantism and Acromegaly |
| Overview: Gigantism and Acromegaly |
 Differential Diagnoses & Workup: Gigantism and Acromegaly |
| Treatment & Medication: Gigantism and Acromegaly |
| Follow-up: Gigantism and Acromegaly |
| Multimedia: Gigantism and Acromegaly |
| References |
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Further Reading
Keywords
gigantism, acromegaly, growth hormone excess, GH excess, giantism, gigantosoma, giant, hypersomia, somatomegaly, acromegalia, endocrine system, giants, pituitary gland, abnormal growth, multiple endocrine neoplasia type I, MEN type I, McCune-Albright syndrome, MAS, neurofibromatosis, tuberous sclerosis, Carney complex, precocious puberty, café au lait spots, fibrous dysplasia, pituitary hyperplasia, adenoma,
