Macromelia Masquerading as an Acromegaloid Syndrome in an Adult with Klippel-Trénaunay Syndrome

Lowman, Erik; Mooradian, Arshag D.

doi:10.4158/ep.14.1.109

Cited by 4 publications

(2 citation statements)

References 11 publications

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“…All 60 patients who had serum IGF‐1 measured, had the levels of IGF‐1 below the upper limit of the normal range. Five of these cases had only serum IGF‐1 measured, 10–13 while the other 55 cases had IGF‐1 measured in combination with random GH and/or GH measured on an OGTT. GH nadir on an OGTT was reported as normal, suppressed or <1.0 µg/L in all 39 patients who underwent this test, except in one subject with pachydermoperiostosis where the GH nadir during an OGTT was 1.7 ng/mL 14 .…”

Section: Resultsmentioning

confidence: 99%

“…9 All 60 patients who had serum IGF-1 measured, had the levels of IGF-1 below the upper limit of the normal range. Five of these cases had only serum IGF-1 measured, [10][11][12][13] while the other 55 cases had IGF-1 measured in T A B L E 1 General demographic and nosological characteristics of the study population consisting of 76 pseudoacromegaly patients. of them after the identification of a mutation in the gene SLCO2A1.…”

Section: Somatotroph Axis and Pituitary Radiological Investigations I...mentioning

confidence: 99%

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Pseudoacromegaly—A challenging entity in the endocrine clinic: A systematic review

Marques,

Sapinho,

Korbonits

2024

Clinical Endocrinology

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ObjectivePseudoacromegaly encompasses conditions with features of acromegaly/gigantism, but no growth hormone (GH) or insulin‐like growth factor‐1 (IGF‐1) excess. We aimed to review published pseudoacromegaly cases evaluated due to clinical suspicion of acromegaly.Design/PatientsPubMed/Medline search was conducted to identify reported pseudoacromegaly cases, which were systematically reviewed to ensure they met eligibility criteria: (1) presentation suggestive of acromegaly; (2) acromegaly excluded based on normal GH, IGF‐1 and/or GH suppression on oral glucose tolerance test (OGTT‐GH); (3) diagnosis of the pseudoacromegaly condition was established. Data were retrieved from each case and analysed collectively.ResultsOf 76 cases, 47 were males, mean ages at presentation and at first acromegaloid symptoms were 28 ± 16 and 17 ± 10 years, respectively. Most common conditions were pachydermoperiostosis (47%) and insulin‐mediated pseudoacromegaly (IMP) (24%). Acromegaloid facies (75%) and acral enlargement (80%) were the most common features. Measurement of random GH was reported in 65%, IGF‐1 in 79%, OGTT‐GH in 51%. GH excess was more frequently excluded based on two tests (53%). Magnetic resonance imaging (MRI) was performed in 30 patients, with pituitary adenoma or hyperplasia being reported in eight and three patients, respectively. Investigations differed between cases managed by endocrine and non‐endocrine specialists, the former requesting more often IGF‐1, OGTT‐GH and pituitary MRI.ConclusionsPseudoacromegaly is a challenging entity that may be encountered by endocrinologists. Pachydermoperiostosis and IMP are the conditions most often mimicking acromegaly. Adequate assessment of GH/IGF‐1 is crucial to exclude acromegaly, which may be better performed by endocrinologists. Pituitary incidentalomas are common and require careful judgement to prevent unnecessary pituitary surgery.

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Section: Resultsmentioning

confidence: 99%