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A Laboratory Medicine Perspective on the Diagnosis and Management of Selected Endocrine Disorders

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A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Clinical Laboratory Medicine".

Deadline for manuscript submissions: closed (25 May 2023) | Viewed by 32637

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Prof. Dr. Rousseau Gama

E-Mail Website1 Website2
Guest Editor

1. Clinical Chemistry, Black Country Pathology Services, Royal Wolverhampton Trust, Wolverhampton WV10 0QP, UK
2. School of Medicine and Clinical Practice, Wolverhampton University, Wolverhampton WV1 1LY, UK
Interests: pre-analytical phase; post-analytical phase, laboratory healthcare delivery
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Dear Colleagues,

The diagnosis and management of disease relies heavily on laboratory testing. Laboratory tests provide the clinician with information to aid in the diagnosis or exclusion of disease and progression or regression of established disease. The process which converts data into clinical information is known as result interpretation. Although applicable to all pathology disciplines, this themed issue will largely but not exclusively involve laboratory medicine tests and their interpretation.

Laboratory medicine has a pivotal role in the diagnosis and management of endocrine disease. Awareness of the limitations of the laboratory test process is crucial and involves understanding components of the pre-analytical phase (e.g., fasting), analytical phase (e.g., assay interference) and post-analytic phase (e.g., reference ranges). These will be covered within each review. We have selected reviews on hypoglycaemia and disease of the adrenal glands and gonads. We will also devote separate reviews on immunoassay interference, as endocrine tests are still largely analysed on immunoassay platforms, and another review on the not widely recognised impact of variation between assay variation and different assay reference ranges on diagnosis of endocrine disease.

Prof. Dr. Rousseau Gama
Guest Editor

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Keywords

immunoassay interference
between assay interference and reference ranges
hypoglycaemia
primary hyperaldosteronism
Cushing’s syndrome
adrenal failure
phaeochromocytoma
male hypogonadism
infertility

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Published Papers (9 papers)

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Research

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12 pages, 2021 KiB

Open AccessArticle

Study of Coagulation Disorders and the Prevalence of Their Related Symptoms among COVID-19 Patients in Al-Jouf Region, Saudi Arabia during the COVID-19 Pandemic

by Heba Bassiony Ghanem, Abozer Y. Elderdery, Hana Nassar Alnassar, Hadeel Ali Aldandan, Wajd Hamed Alkhaldi, Kholod Saad Alfuhygy, Mjd Muharib Alruwyli, Razan Ayed Alayyaf, Shoug Khaled Alkhalef, Saud Nahar L. Alruwaili and Jeremy Mills

Diagnostics 2023, 13(6), 1085; https://doi.org/10.3390/diagnostics13061085 - 13 Mar 2023

Viewed by 2658

Abstract

Introduction: The coronavirus (COVID-19) has affected millions of people around the world. COVID-19 patients, particularly those with the critical illness, have coagulation abnormalities, thrombocytopenia, and a high prevalence of intravascular thrombosis. Objectives: This work aims to assess the prevalence of coagulation disorders and their related symptoms among COVID-19 patients in the Al-Jouf region of Saudi Arabia. Subjects and methods: We conducted a retrospective study on 160 COVID-19 patients. Data were collected from the medical records department of King Abdulaziz Specialist Hospital, Sakaka, Al-Jouf, Saudi Arabia. The socio-demographic data, risk factors, coagulation profile investigation results, symptom and sign data related to coagulation disorders, and disease morbidity and mortality for COVID-19 patients were extracted from medical records, and the data were stored confidentially. Results: Males represented the highest prevalence of COVID-19 infection at 65%; 29% were aged 60 or over; 28% were smokers; and 36% were suffering from chronic diseases, with diabetes mellitus representing the highest prevalence. Positive D-dimer results occurred in 29% of cases, with abnormal platelet counts in 26%. Conclusion: Our findings confirm that the dysregulation of the coagulation cascade and the subsequent occurrence of coagulation disorders are common in coronavirus infections. The results show absolute values, not increases over normal values; thus, it is hard to justify increased risk and presence based on the presented data. Full article

(This article belongs to the Special Issue A Laboratory Medicine Perspective on the Diagnosis and Management of Selected Endocrine Disorders)

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11 pages, 1544 KiB

Open AccessArticle

Association between Urinary Creatinine Excretion and Hypothyroidism in Patients with Chronic Kidney Disease

by Natsumi Matsuoka-Uchiyama, Kenji Tsuji, Kensaku Takahashi, Kazuhiko Fukushima, Hidemi Takeuchi, Shinji Kitamura, Kenichi Inagaki, Haruhito A. Uchida and Jun Wada

Diagnostics 2023, 13(4), 669; https://doi.org/10.3390/diagnostics13040669 - 10 Feb 2023

Cited by 2 | Viewed by 3556

Abstract

While hypothyroidism increases serum creatinine (Cr) levels, it is uncertain whether the elevation is mediated via a decline in the glomerular filtration rate (GFR) or the reflection of enhanced Cr production from the muscles or both. In the present study, we explored an association between urinary Cr excretion rate (CER) and hypothyroidism. A total of 553 patients with chronic kidney disease were enrolled in a cross-sectional study. Multiple linear regression analysis was performed to explore the association between hypothyroidism and urinary CER. The mean urinary CER was 1.01 ± 0.38 g/day and 121 patients (22%) had hypothyroidism. The multiple linear regression analysis revealed explanatory variables with urinary CER, including age, sex, body mass index, 24 h Cr clearance (24hrCcr), and albumin while hypothyroidism was not considered an independent explanatory variable. In addition, scatter plot analysis with regression fit line representing the association between estimated GFR calculated using s-Cr (eGFRcre) and 24hrCcr revealed that eGFRcre and 24hrCcr had strong correlations with each other in hypothyroid patients as well as euthyroid patients. Collectively, hypothyroidism was not considered an independent explanatory variable for urinary CER in the present study and eGFRcre is a useful marker to evaluate kidney function regardless of the presence of hypothyroidism. Full article

(This article belongs to the Special Issue A Laboratory Medicine Perspective on the Diagnosis and Management of Selected Endocrine Disorders)

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Review

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17 pages, 314 KiB

Open AccessReview

Adult Male Hypogonadism: A Laboratory Medicine Perspective on Its Diagnosis and Management

by Mark Livingston and Adrian H. Heald

Diagnostics 2023, 13(24), 3650; https://doi.org/10.3390/diagnostics13243650 - 12 Dec 2023

Viewed by 1363

Abstract

Testosterone (T), the principal androgen secreted by the testes, plays an essential role in male health. Male hypogonadism is diagnosed based on a combination of associated clinical signs and symptoms and laboratory confirmation of low circulating T levels. In this review, we have highlighted factors, both biological and analytical, that introduce variation into the measurement of serum T concentrations in men; these need to be considered when requesting T levels and interpreting results. There is an ongoing need for analytical standardisation of T assays and harmonisation of pre- and post-analytical laboratory practices, particularly in relation to the laboratory reference intervals provided to clinicians. Further, there is a need to share with service users the most up-to-date and evidence-based action thresholds for serum T as recommended in the literature. Estimation of free testosterone may be helpful. Causes of secondary hypogonadism should be considered. A comprehensive approach is required in the management of male hypogonadism, including lifestyle modification as well as medication where appropriate. The goal of treatment is the resolution of symptoms as well as the optimisation of metabolic, cardiovascular, and bone health. The advice of an endocrinologist should be sought when there is doubt about the cause and appropriate management of the hypogonadism. Full article

(This article belongs to the Special Issue A Laboratory Medicine Perspective on the Diagnosis and Management of Selected Endocrine Disorders)

15 pages, 311 KiB

Open AccessReview

Impact of Variation between Assays and Reference Intervals in the Diagnosis of Endocrine Disorders

by Nathan Lorde, Ahmed Elgharably and Tejas Kalaria

Diagnostics 2023, 13(22), 3453; https://doi.org/10.3390/diagnostics13223453 - 16 Nov 2023

Viewed by 1328

Abstract

Method-related variations in the measurement of hormones and the reference intervals used in the clinical laboratory can have a significant, but often under-appreciated, impact on the diagnosis and management of endocrine disorders. This variation in laboratory practice has the potential to lead to an errant approach to patient care and thus could cause harm. It may also be the source of confusion or result in excessive or inadequate investigation. It is important that laboratory professionals and clinicians know about these impacts, their sources, and how to detect and mitigate them when they do arise. In this review article, we describe the historical and scientific context from which inconsistency in the clinical laboratory arises. Examples from the published literature of the impact of the method, reference interval, and clinical decision threshold-related discordances on the assessment and monitoring of various endocrine disorders are discussed to illustrate the sources, causes, and effects of this variability. Its potential impact on the evaluation of growth hormone deficiency and excess, thyroid and parathyroid disorders, hyperandrogenism, hypogonadism, glucocorticoid excess and deficiency, and diabetes mellitus is elaborated. Strategies for assessment and mitigation of the discordance are discussed. The clinical laboratory has a responsibility to recognise and address these issues, and although a lot has been accomplished in this area already, there remains more to be done. Full article

(This article belongs to the Special Issue A Laboratory Medicine Perspective on the Diagnosis and Management of Selected Endocrine Disorders)

12 pages, 509 KiB

Open AccessReview

Investigation and Causes of Spontaneous (Non-Diabetic) Hypoglycaemia in Adults: Pitfalls to Avoid

by Maiar Elghobashy, Rousseau Gama and Raashda Ainuddin Sulaiman

Diagnostics 2023, 13(20), 3275; https://doi.org/10.3390/diagnostics13203275 - 22 Oct 2023

Cited by 1 | Viewed by 3281

Abstract

Although adult spontaneous (non-diabetic) hypoglycaemia is rare, its recognition is important for the preventative or curative treatment of the underlying cause. Establishing Whipple’s triad—low blood glucose, neuroglycopaenia and resolution of neuroglycopaenia on increasing blood glucose levels to normal or above—is essential to verify hypoglycaemia. Awareness that hypoglycaemia may occur in severely ill patients is important for its prevention. Further investigation in such cases is unnecessary unless another cause of hypoglycaemia is suspected. Patients are often asymptomatic and normoglycaemic at review. Their history of medication, self-medication, access to hypoglycaemic drugs, alcohol use and comorbidity may provide aetiological clues. The investigation involves obtaining blood samples during symptoms for laboratory glucose measurement or provoking fasting or postprandial hypoglycaemia as directed by symptoms. If confirmed, insulin, c-peptide, proinsulin and beta-hydroxybutyrate are analysed in hypoglycaemic samples. These will classify hypoglycaemia due to non-ketotic hyperinsulinaemia, non-ketotic hypoinsulinaemia and ketotic hypoinsulinaemia, and direct investigations to identify the underlying cause. There are, however, many pitfalls that may mislabel healthy individuals as “hypoglycaemic” or misdiagnose treatable or preventable causes of spontaneous hypoglycaemia. Clinical acumen and appropriate investigations will mostly identify hypoglycaemia and its cause. Full article

(This article belongs to the Special Issue A Laboratory Medicine Perspective on the Diagnosis and Management of Selected Endocrine Disorders)

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10 pages, 264 KiB

Open AccessReview

Female Infertility in Chronic Kidney Disease

by Mahua Bhaduri, Ippokratis Sarris and Kate Bramham

Diagnostics 2023, 13(20), 3216; https://doi.org/10.3390/diagnostics13203216 - 15 Oct 2023

Viewed by 2302

Abstract

This review summarises the current literature regarding infertility in women with chronic kidney disease (CKD), describing the epidemiology, pathophysiology, investigations, and management options. The pathophysiology is multifactorial, with proposed mechanisms including disruption of the hypothalamus−pituitary−ovarian axis, chronic inflammation, oxidative stress, psychological factors, and gonadotoxic effects of medications such as cyclophosphamide. Diagnostic investigations in CKD patients seeking to conceive should be considered earlier than in the healthy population. Investigations should include hormonal profiling, including markers such as Anti-Mullerian Hormone and imaging such as ultrasound, to evaluate ovarian reserve and identify gynaecology pathology. Treatment options for infertility in CKD patients include GnRH agonists to preserve ovarian function during cyclophosphamide treatment, as well as assisted reproductive technologies including in vitro fertilisation and ovulation induction. However, these treatments must be tailored to the individual’s health status, comorbidities, fertility requirements, and CKD stage. In conclusion, fertility is an important consideration for women with CKD, necessitating early investigation and tailored management. Early discussions regarding fertility are important in order to understand patients’ family planning and allow for prompt referral to fertility services. While challenges exist, ongoing research aims to clarify the underlying mechanism and optimise treatment strategies, which are crucial for improving quality of life and overall health outcomes. Full article

(This article belongs to the Special Issue A Laboratory Medicine Perspective on the Diagnosis and Management of Selected Endocrine Disorders)

22 pages, 2071 KiB

Open AccessReview

A Laboratory Medicine Perspective on the Investigation of Phaeochromocytoma and Paraganglioma

by Christopher S. Boot

Diagnostics 2023, 13(18), 2940; https://doi.org/10.3390/diagnostics13182940 - 13 Sep 2023

Cited by 3 | Viewed by 2657

Abstract

Phaeochromocytomas (PC) and sympathetic paragangliomas (PGL) are potentially malignant tumours arising from the adrenal medulla (PC) or elsewhere in the sympathetic nervous system (PGL). These tumours usually secrete catecholamines and are associated with significant morbidity and mortality, so accurate and timely diagnosis is essential. The initial diagnosis of phaeochromocytoma/paraganglioma (PPGL) is often dependent on biochemical testing. There is a range of pre-analytical, analytical and post-analytical factors influencing the analytical and diagnostic performance of biochemical tests for PPGL. Pre-analytical factors include patient preparation, sample handling and choice of test. Analytical factors include choice of methodology and the potential for analytical interference from medications and other compounds. Important factors in the post-analytical phase include provision of appropriate reference ranges, an understanding of the potential effects of various medications on metanephrine concentrations in urine and plasma and a consideration of PPGL prevalence in the patient population being tested. This article reviews these pre-analytical, analytical and post-analytical factors that must be understood in order to provide effective laboratory services for biochemical testing in the diagnosis of PPGL. Full article

(This article belongs to the Special Issue A Laboratory Medicine Perspective on the Diagnosis and Management of Selected Endocrine Disorders)

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12 pages, 1096 KiB

Open AccessReview

Adrenal Failure: An Evidence-Based Diagnostic Approach

by Salomi Shaikh, Lakshmi Nagendra, Shehla Shaikh and Joseph M. Pappachan

Diagnostics 2023, 13(10), 1812; https://doi.org/10.3390/diagnostics13101812 - 21 May 2023

Cited by 6 | Viewed by 8292

Abstract

The diagnosis of adrenal insufficiency (AI) requires a high index of suspicion, detailed clinical assessment including detailed drug history, and appropriate laboratory evaluation. The clinical characteristics of adrenal insufficiency vary according to the cause, and the presentation may be myriad, e.g. insidious onset to a catastrophic adrenal crisis presenting with circulatory shock and coma. Secondary adrenal insufficiency (SAI) often presents with only glucocorticoid deficiency because aldosterone production, which is controlled by the renin angiotensin system, is usually intact, and rarely presents with an adrenal crisis. Measurements of the basal serum cortisol at 8 am (<140 nmol/L or 5 mcg/dL) coupled with adrenocorticotrophin (ACTH) remain the initial tests of choice. The cosyntropin stimulation (short synacthen) test is used for the confirmation of the diagnosis. Newer highly specific cortisol assays have reduced the cut-off points for cortisol in the diagnosis of AI. The salivary cortisol test is increasingly being used in conditions associated with abnormal cortisol binding globulin (CBG) levels such as pregnancy. Children and infants require lower doses of cosyntropin for testing. 21-hydoxylase antibodies are routinely evaluated to rule out autoimmunity, the absence of which would require secondary causes of adrenal insufficiency to be ruled out. Testing the hypothalamic–pituitary–adrenal (HPA) axis, imaging, and ruling out systemic causes are necessary for the diagnosis of AI. Cancer treatment with immune checkpoint inhibitors (ICI) is an emerging cause of both primary AI and SAI and requires close follow up. Several antibodies are being implicated, but more clarity is required. We update the diagnostic evaluation of AI in this evidence-based review. Full article

(This article belongs to the Special Issue A Laboratory Medicine Perspective on the Diagnosis and Management of Selected Endocrine Disorders)

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24 pages, 2369 KiB

Open AccessReview

Pitfalls in the Diagnosis and Management of Hypercortisolism (Cushing Syndrome) in Humans; A Review of the Laboratory Medicine Perspective

by Kade C. Flowers and Kate E. Shipman

Diagnostics 2023, 13(8), 1415; https://doi.org/10.3390/diagnostics13081415 - 14 Apr 2023

Cited by 2 | Viewed by 6489

Abstract

Biochemical confirmation of a diagnosis of hypercortisolism (Cushing syndrome) is vital to direct further investigations, especially given the overlap with non-autonomous conditions, such as pseudo-Cushing, and the morbidity associated with missed diagnoses. A limited narrative review was performed focusing on the laboratory perspective of the pitfalls of making a biochemical diagnosis of hypercortisolism in those presenting with presumed Cushing syndrome. Although analytically less specific, immunoassays remain cheap, quick, and reliable in most situations. Understanding cortisol metabolism can help with patient preparation, specimen selection (e.g., consideration of urine or saliva for those with possible elevations of cortisol binding globulin concentration), and method selection (e.g., mass spectrometry if there is a high risk of abnormal metabolites). Although more specific methods may be less sensitive, this can be managed. The reduction in cost and increasing ease of use makes techniques such as urine steroid profiles and salivary cortisone of interest in future pathway development. In conclusion, the limitations of current assays, particularly if well understood, do not impede diagnosis in most cases. However, in complex or borderline cases, there are other techniques to consider to aid in the confirmation of hypercortisolism. Full article

(This article belongs to the Special Issue A Laboratory Medicine Perspective on the Diagnosis and Management of Selected Endocrine Disorders)

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