Acromegaly differential diagnosis
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ahmed Elsaiey, MBBCH [2]
Overview
Acromegaly must be differentiated from other diseases that cause acral features like skin thickening and linear bone growth. These diseases such as Marfan syndrome, precocious puberty, prolactinoma, and pachydermoperiostosis.
Differentiating acromegaly from other Diseases
- Acromegaly must be differentiated from other diseases that cause acral features like skin thickening and linear bone growth. These diseases such as Marfan syndrome, precocious puberty, prolactinoma, and pachydermoperiostosis.[1][2][3][4]
Differential Diagnosis | Similar Features | Differentiating Features |
---|---|---|
Prolactinoma |
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Marfan syndrome |
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Precocious puberty |
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Pachydermoperiostosis (Primary hypertrophic osteoarthropathy) |
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Less common differentials
Acromegaly should also be differentiated from other causes of hyperprolactinemia that may present as galactorrhea, amenorrhea, (in females) and infertility (in both males and females) including:
- Physiological:
- Pathological:
- Pituitary tumors (other than prolactinoma):[6]
- Suprasellar tumors (tumors present in the region of the pituitary stalk)
- Hypothyroidism[7]
- Chronic renal failure[8]
- Liver disease[9]
- Cirrhosis (with or without encephalopathy)
- Viral hepatitis (with encephalopathy)
- Seizure disorder[10][11]
- Medication-induced:
- Antipsychotic medications:[12]
- Antiemetic medications:
- Antihypertensive medications:
Disease | Clinical Findings | Laboratory findings | Management |
---|---|---|---|
Somatotroph adenoma: | Clinical features of acromegaly are due to high level of human growth hormone (hGH):
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Corticotroph adenoma: Cushing's syndrome | Clinical features of Cushing's syndrome are due to increased levels of cortisol:
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Hypothyroidism | Clinical features of hypothyroidism are due to deficiency of thyroxine:
|
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Levothyroxine |
Chronic renal failure | There are no pathognomonic symptoms associated with chronic renal failure. Common non-specific symptoms of chronic renal failure include:
|
Urinalysis:
Fluid and electrolyte disturbances: Endocrine and metabolic disturbances:
Hematologic abnormalities: |
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Liver disease: Cirrhosis | The clinical features of liver cirrhosis are very nonspecific. These include:
|
|
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Seizure disorder | The clinical features of seizure disorder may include:
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Electroencephalogram |
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Medication-induced | Clinical features of hyperprolactinemia after a specific period of regular medication ingestion | Discontinuation of the medication for 3 days and remeasurement of prolactin levels[17] | Change to alternate medication |
Differentiating Acromegaly from Other Diseases
Disease | Gene | Chromosome | Differentiating Features | Components of MEN | Diagnosis | ||
---|---|---|---|---|---|---|---|
Parathyroid | Pitutary | Pancreas | |||||
von Hippel-Lindau syndrome | Von Hippel–Lindau tumor suppressor | 3p25.3 |
|
- | - | + |
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Carney complex | PRKAR1A | 17q23-q24 |
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- | - | - |
|
Neurofibromatosis type 1 | RAS | 17 | - | - | - | Prenatal
Postnatal Cardinal Clinical Features" are required for positive diagnosis.
| |
Li-Fraumeni syndrome | TP53 | 17 | Early onset of diverse amount of cancers such as | - | - | - |
Criteria
|
Gardner's syndrome | APC | 5q21 |
|
- | - | - |
|
Multiple endocrine neoplasia type 2 | RET | - |
|
+ | - | - |
Criteria Two or more specific endocrine tumors
|
Cowden syndrome | PTEN | - | Hamartomas | - | - | - |
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Acromegaly/gigantism | - | - |
|
- | + | - |
|
Pituitary adenoma | - | - |
|
- | + | - |
|
Hyperparathyroidism | - | - | - | + | - | - |
|
Pheochromocytoma/paraganglioma |
VHL RET NF1 SDHB SDHD |
- | Characterized by | - | - | - |
|
Adrenocortical carcinoma |
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17p, 13q |
|
- | - | - |
|
Adapted from Toledo SP, Lourenço DM, Toledo RA. A differential diagnosis of inherited endocrine tumors and their tumor counterparts, journal=Clinics (Sao Paulo), volume= 68, issue= 7, 07/24/2013[18] |
References
- ↑ Abdullah NRA, Jason WLC, Nasruddin AB (2017). "Pachydermoperiostosis: a rare mimicker of acromegaly". Endocrinol Diabetes Metab Case Rep. 2017. doi:10.1530/EDM-17-0029. PMC 5445428. PMID 28567291.
- ↑ Loeys BL, Dietz HC, Braverman AC, Callewaert BL, De Backer J, Devereux RB; et al. (2010). "The revised Ghent nosology for the Marfan syndrome". J Med Genet. 47 (7): 476–85. doi:10.1136/jmg.2009.072785. PMID 20591885.
- ↑ Liu JK, Couldwell WT (2004). "Contemporary management of prolactinomas". Neurosurg Focus. 16 (4): E2. PMID 15191331.
- ↑ Papadimitriou A, Beri D, Tsialla A, Fretzayas A, Psychou F, Nicolaidou P (2006). "Early growth acceleration in girls with idiopathic precocious puberty". J Pediatr. 149 (1): 43–6. doi:10.1016/j.jpeds.2006.02.005. PMID 16860125.
- ↑ Rigg LA, Lein A, Yen SS (1977). "Pattern of increase in circulating prolactin levels during human gestation". Am J Obstet Gynecol. 129 (4): 454–6. PMID 910825.
- ↑ Levy A (2004). "Pituitary disease: presentation, diagnosis, and management". J Neurol Neurosurg Psychiatry. 75 Suppl 3: iii47–52. doi:10.1136/jnnp.2004.045740. PMC 1765669. PMID 15316045.
- ↑ Snyder PJ, Jacobs LS, Utiger RD, Daughaday WH (1973). "Thyroid hormone inhibition of the prolactin response to thyrotropin-releasing hormone". J Clin Invest. 52 (9): 2324–9. doi:10.1172/JCI107421. PMC 333037. PMID 4199418.
- ↑ Sievertsen GD, Lim VS, Nakawatase C, Frohman LA (1980). "Metabolic clearance and secretion rates of human prolactin in normal subjects and in patients with chronic renal failure". J Clin Endocrinol Metab. 50 (5): 846–52. doi:10.1210/jcem-50-5-846. PMID 7372775.
- ↑ Jha SK, Kannan S (2016). "Serum prolactin in patients with liver disease in comparison with healthy adults: A preliminary cross-sectional study". Int J Appl Basic Med Res. 6 (1): 8–10. doi:10.4103/2229-516X.173984. PMC 4765284. PMID 26958514.
- ↑ Ben-Menachem, Elinor (2006). "Is Prolactin a Clinically Useful Measure of Epilepsy?". Epilepsy Currents. 6 (3): 78–79. doi:10.1111/j.1535-7511.2006.00104.x. ISSN 1535-7597.
- ↑ Trimble MR (1978). "Serum prolactin in epilepsy and hysteria". Br Med J. 2 (6153): 1682. PMC 1608938. PMID 737437.
- ↑ David SR, Taylor CC, Kinon BJ, Breier A (2000). "The effects of olanzapine, risperidone, and haloperidol on plasma prolactin levels in patients with schizophrenia". Clin Ther. 22 (9): 1085–96. doi:10.1016/S0149-2918(00)80086-7. PMID 11048906.
- ↑ McCallum RW, Sowers JR, Hershman JM, Sturdevant RA (1976). "Metoclopramide stimulates prolactin secretion in man". J Clin Endocrinol Metab. 42 (6): 1148–52. doi:10.1210/jcem-42-6-1148. PMID 777023.
- ↑ Sowers JR, Sharp B, McCallum RW (1982). "Effect of domperidone, an extracerebral inhibitor of dopamine receptors, on thyrotropin, prolactin, renin, aldosterone, and 18-hydroxycorticosterone secretion in man". J Clin Endocrinol Metab. 54 (4): 869–71. doi:10.1210/jcem-54-4-869. PMID 7037817.
- ↑ Steiner J, Cassar J, Mashiter K, Dawes I, Fraser TR, Breckenridge A (1976). "Effects of methyldopa on prolactin and growth hormone". Br Med J. 1 (6019): 1186–8. PMC 1639736. PMID 1268617.
- ↑ Fearrington EL, Rand CH, Rose JD (1983). "Hyperprolactinemia-galactorrhea induced by verapamil". Am J Cardiol. 51 (8): 1466–7. PMID 6682619.
- ↑ Melmed S, Casanueva FF, Hoffman AR, Kleinberg DL, Montori VM, Schlechte JA; et al. (2011). "Diagnosis and treatment of hyperprolactinemia: an Endocrine Society clinical practice guideline". J Clin Endocrinol Metab. 96 (2): 273–88. doi:10.1210/jc.2010-1692. PMID 21296991.
- ↑ Toledo SP, Lourenço DM, Toledo RA (2013). "A differential diagnosis of inherited endocrine tumors and their tumor counterparts". Clinics (Sao Paulo). 68 (7): 1039–56. doi:10.6061/clinics/2013(07)24. PMC 3715026. PMID 23917672.