Biochemical investigations in diagnosis and follow up of acromegaly

Schilbach, Katharina; Strasburger, Christian J.; Bidlingmaier, Martin

doi:10.1007/s11102-017-0792-z

Cited by 41 publications

(29 citation statements)

References 144 publications

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“…Although GH and IGF-I are widely used, both biomarkers have shortcomings due to particularities of the analytical process itself, but also due to difficulties in the interpretation of the results. Discrepancies between the results from measurements of GH and IGF-I concentrations have been reported repeatedly (3) and can lead to problems in clinical management.…”

Section: Introductionmentioning

confidence: 99%

Laboratory investigations in the diagnosis and follow-up of GH-related disorders

Schilbach¹,

Bidlingmaier²

2019

Archives of Endocrinology and Metabolism

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In addition to auxiological, clinical and metabolic features measurements of growth hormone (GH) and insulin-like growth factor I (IGF-I) complement our tools in diagnosis and follow-up of GH-related disorders. While comparably robust during the pre-analytical phase, measurement and interpretation of concentrations of both hormones can be challenging due to analytical issues and biological confounders. Assay methods differ in terms of antibody specificity, interference from binding proteins, reference preparations and sensitivity. GH assays have different specificity towards different GHisoforms (e.g. 20 kDa GH, placental GH) and interference from the GH antagonist Pegvisomant. The efficacy to prevent binding protein interference is most important in IGF-I assays. Methodological differences between assays require that reference intervals and diagnostic cutoffs are assay-specific. Among biological variables, pubertal development and age are most relevant for IGF-I, making detailed reference intervals mandatory for interpretation. GH has pulsatile secretion and short half-life. Its concentration is modified by acute factors such as stress, exercise and sleep, but also by intake of oral estrogens and anthropometric factors (e.g. BMI). Other GH dependent biomarkers such as free IGF-I, IGF binding protein 3 (IGFBP 3) and acid labile subunit (ALS) have been proposed. Their concentrations largely mirror the information obtained through measurement of IGF-I, but their measurement can be helpful in particular situations. In this review, we describe the evolution of analytical methods to measure biomarkers of GH action, the impact of the methodological changes on laboratory results and the need to include biological variables in their interpretation.

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Section: Introductionmentioning

confidence: 99%

Laboratory investigations in the diagnosis and follow-up of GH-related disorders

Schilbach¹,

Bidlingmaier²

2019

Archives of Endocrinology and Metabolism

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“…Monitoring of GH levels can be used to directly monitor tumour activity 39 (very low quality (VLQ)), but we recommend waiting at least 12 weeks after surgery to assess IGF1 levels, as the postoperative decline in IGF1 levels can be delayed compared with that of GH levels 11,40 (SR). Discordant reported IGF1 and GH values have been observed in patients following surgery as well as in those treated with somatostatin receptor ligands (SRLs) 41,42 (MQ), which is probably the result of discrepancies in the assays used (MQ) and/or of biological factors, such as sex, glucose metabolism and GH receptor polymorphism, affecting results 43,44 (VLQ). As the clinical importance of such a finding remains to be established, performing an OGTT in patients treated with an SRL is not likely to be clinically useful 38 .…”

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A Consensus Statement on acromegaly therapeutic outcomes

et al. 2018

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“…New data even suggest a cut-off of < 0.3 ng/mL to exclude this disease [16]. When a discrepancy of GH/IGF-1 value is found during a diagnosis, we should really pursue close follow-up [26]. Normal GH suppression [12] with high IGF-1is not so uncommon nowadays.…”

Section: Discussionmentioning

confidence: 99%

Acromegaly with congenital generalized lipodystrophy – two rare insulin resistance conditions in one patient: a case report

et al. 2020

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Background: Lipodystrophies are a group of diseases which are characterized by abnormal adipose tissue deposition and are frequently associated with metabolic changes. Congenital generalized lipodystrophy is an autosomal recessive syndrome, with a prevalence < 1:10 million. Acromegaly is a rare disease, secondary to the chronic hypersecretion of growth hormone and insulin-like growth factor-1, with characteristic metabolic and somatic effects. "Acromegaloidism" is a term used for patients who manifest clinical features of acromegaly, but do not present a demonstrable hormone growth hypersecretion. The extreme shortage of subcutaneous adipose tissues and muscle hypertrophy confer an acromegaloid-like appearance in these patients. Case presentation: We describe a case of a patient with the rare combination of Berardinelli-Seip congenital lipodystrophy and acromegaly; our patient is a 63-year-old white man, who was referred to an endocrinology consultation for suspected lipodystrophy. He had lipoatrophy of upper and lower limbs, trunk, and buttocks, with muscular prominence, acromegaloid facial appearance, large extremities, and soft tissue tumescence. In addition, he had dyslipidemia and prediabetes. His fat mass ratio (% trunk fat mass/% lower limbs fat mass) was 1.02 by densitometry and he also had hepatomegaly, with mild steatosis (from an abdominal ultrasound), and left ventricular hypertrophy (from an electrocardiogram). His first oral glucose tolerance test had growth hormone nadir of 0.92 ng/mL, and the second test, 10 months afterwards, registered growth hormone nadir of 0.64 ng/mL (growth hormone nadir < 0.3 ng/mL excludes acromegaly). Pituitary magnetic resonance imaging identified an area of hypocaptation of contrast product in relation to a pituitary adenoma and he was subsequently submitted to transsphenoidal surgical resection of the mass. A pathological evaluation showed pituitary adenoma with extensive expression of growth hormone and adrenocorticotropic hormone, as well as a rare expression of follicle-stimulating hormone and prolactin. A genetic study revealed an exon 3/exon 4 deletion of the AGPAT2 gene in homozygosity. Conclusions: Congenital generalized lipodystrophy is a rare disease which occurs with acromegaloid features. As far as we know, we have described the first case of genetic lipodystrophy associated with true acromegaly. Although this is a rare association, the presence of congenital generalized lipodystrophy should not exclude the possibility of simultaneous acromegaly.

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Biochemical investigations in diagnosis and follow up of acromegaly

Cited by 41 publications

References 144 publications

Laboratory investigations in the diagnosis and follow-up of GH-related disorders

Laboratory investigations in the diagnosis and follow-up of GH-related disorders

A Consensus Statement on acromegaly therapeutic outcomes

Acromegaly with congenital generalized lipodystrophy – two rare insulin resistance conditions in one patient: a case report

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