Lege Artis Medicinae

[Evaluating endocrine laboratory findings]

KOVÁCS L. Gábor1, TOLDY Erzsébet1, LŐCSEI Zoltán2

FEBRUARY 01, 2000

Lege Artis Medicinae - 2000;10(02)

[The clinical value of hormonal laboratory findings is determined by many more factors than of the conventional (non-endocrine) parameters. The increased complexity is partly due to the physiological and pathophysiological properties of hormonal biomolecules as well as to the characteristic differences in the analytical methods. Correct interpretation of the endocrine results requires the consideration of potential preanalytical errors and the collection and handling of samples done more carefully. Because of the low physiological concentrations of hormones, only microanalytical methods can be used. Endocrine parameters in clinical laboratories are usually measured with immunoassay methods these days. Due to the assay characteristics of these methods (e.g. cross-reactivity of the antibodies, specificity, technology-dependent differences in sensitivity), numerical values appearing on the laboratory reports – particularly if not accompanied with additional information - may be incorrectly interpreted by the clinicians. Therefore, plausibility control should be an integral part of the post-analytical tasks of a laboratory. The authors evaluate these specialties based on their own analytical and clinical experience as well as on literature data. It is concluded that correct endocrine laboratory report should contain not only data on reference values, but also the confidentiality limits of the given endocrine test. Subnormal values, provided they are of clinical relevance, should be evaluated together with the variation coefficient and the functional sensitivity, measured specifically in this lower range. The frequently asked question, whether a difference in endocrine results is due to biological factors determined by a disease, or to analytical problems, is particularly important when using dynamic tests. ]

AFFILIATIONS

  1. Központi Laboratórium Vas megyei Markusovszky Kórház, Orvostudományi Egyetemi Oktatókórház, Szombathely
  2. I. Sz. Belgyógyászati Osztály, Vas megyei Markusovszky Kórház, Orvostudományi Egyetemi Oktatókórház, Szombathely

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[Juvenile haemochromatosis is a rare autosomally inherited disorder of iron metabolism causing severe iron overload in young adults. The organs mostly affected are liver, spleen, pancreas, heart and the skin similarly to the genetically also determined adult form. CASE REPORT - Contrary to most juvenile haemochromatosis cases characterised by secondary hypogonadotropic hypogonadism, this patient presented with adrenocortical insufficiency. Involvement of the heart was present on diagnosis while liver showed normal architecture without increased iron content. Genetic analysis revealed that the patient did not carry the C282Y mutation, while the H63D mutation was present in heterozygous form. With hormone supply and regular vena sections the patient is free of complaints. CONCLUSION – This case demonstrates that severe iron overload can occur early in adult life without the presence of HFE gene mutations suggesting a putative gene defect responsible for juvenile haemochromatosis. ]

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