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Diagnostics
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New Entities, New Approaches of Endocrine Diseases
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New Entities, New Approaches of Endocrine Diseases

A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Pathology and Molecular Diagnostics".

Deadline for manuscript submissions: closed (30 November 2022) | Viewed by 11678

Special Issue Editor

Dr. Mara Carsote

E-Mail Website
Guest Editor
1. Department of Endocrinology, Carol Davila University of Medicine and Pharmacy, 050474 Bucharest, Romania
2. Department of Endocrinology, C.I. Parhon National Institute of Endocrinology, 011863 Bucharest, Romania
Interests: thyroid; adrenal; pituitary; osteoporosis; neuroendocrine tumors; bone; fracture; gynecological endocrinology
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues, 

The endocrinology domain represents the most challenging, modern field in terms of epidemiological impact, the dynamics of investigations and management, and multidisciplinary implications.

We warmly invite you to contribute to this Special Issue entitled ”New Entities and New Approaches of Endocrine Diseases”, aiming to promote an update regarding inflammatory, immune/autoimmune and neoplasia conditions from the bio-molecular perspective to clinical features, endocrine/surgical approach, innovative prognostic markers, rare syndromic circumstances, updates on gene testing, and unusual complications of traditional maladies.

We are particularly, but not exclusively, interested in the following three main areas:

  • Thyroiditis, hypophysitis, and adrenalitis of different etiologies, including new infectious agents, drug-induced side effects such as check point inhibitors or mitotane.
  • Autoimmune conditions of the thyroid, pituitary, and adrenal glands, also covering topics such as the ongoing controversies of therapy, particular presentations, hereditary and acquired syndromes, and genetic backup.
  • Endocrine tumors, either benign or malign, either functioning or not, particularly involving the modern surgical approach and related benefits/risks, robotic surgery, fine needle aspiration and core biopsy, adrenal vein catheterization and other associated procedures for diagnostics, innovative immunohistochemistry markers, genetic and epigenetic assessments, new entities such as collision tumors of the thyroid, Connshing’s syndrome, survival analysis, impact of endocrine disruptors, and particular populations such as pregnant women, children, and the elderly.

We thank all researchers for their contributions to this Special Issue.

Dr. Mara Carsote
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Diagnostics is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • endocrine tumor
  • thyroiditis
  • hypophysitis
  • hereditary syndrome
  • collision tumor
  • prognostic marker
  • endocrine surgery

Published Papers (4 papers)

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Research

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14 pages, 1787 KiB  
Article
Sex-Specific Cut-Offs of Single Point Insulin Sensitivity Estimator (SPISE) in Predicting Metabolic Syndrome in the Arab Adolescents
by Kaiser Wani, Malak N. K. Khattak, Gamal M. Saadawy, Omar S. Al-Attas, Majed S. Alokail and Nasser M. Al-Daghri
Diagnostics 2023, 13(2), 324; https://doi.org/10.3390/diagnostics13020324 - 16 Jan 2023
Cited by 2 | Viewed by 1522
Abstract
The Single Point Insulin Sensitivity Estimator (SPISE) is a novel surrogate marker for insulin sensitivity and was found comparable to the gold standard clamp test as well as for predicting the Metabolic Syndrome (MetS) in several populations. The present study aimed to assess [...] Read more.
The Single Point Insulin Sensitivity Estimator (SPISE) is a novel surrogate marker for insulin sensitivity and was found comparable to the gold standard clamp test as well as for predicting the Metabolic Syndrome (MetS) in several populations. The present study aimed to assess for the first time, the validity of SPISE in predicting MetS among Arab adolescents. In this cross-sectional study, 951 Saudi adolescents aged 10–17 years were randomly recruited from different schools across Riyadh, Saudi Arabia. Anthropometrics were measured and fasting blood samples were collected for the assessment of glucose, lipid profile, adipokines, C-reactive protein and 25 hydroxyvitamin (OH) D. MetS was defined using the National Cholesterol Education Program’s (NCEP) criteria with age-specific thresholds for adolescents. The SPISE as well as insulin resistance (HOMA-IR) indices were calculated. The over-all prevalence of MetS was 8.6% (82 out of 951). SPISE index was significantly lower in MetS than non-MetS participants in both sexes (5.5 ± 2.5 vs. 9.4 ± 3.2, p < 0.001 in boys and 4.4 ± 1.4 vs. 8.6 ± 3.2, p < 0.001 in girls). The SPISE index showed a significant inverse correlation with resistin, leptin, and C-reactive protein, and a significant positive correlation with adiponectin and 25(OH) D. Areas under the curve (AUC) revealed fair and good accuracy for predicting MetS 84.1% and 90.3% in boys and girls, respectively. The sex-specific cut-off proposed was SPISE index ≤6.1 (sensitivity 72.2% and specificity 83.9%) for boys and ≤6.46 (sensitivity 96.3% and specificity 73.4%), for girls. This study suggests that the SPISE index is a simple and promising diagnostic marker of insulin sensitivity and MetS in Arab adolescents. Full article
(This article belongs to the Special Issue New Entities, New Approaches of Endocrine Diseases)
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Review

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21 pages, 693 KiB  
Review
Molecular Landscape of Pediatric Thyroid Cancer: A Review
by Prerna Guleria, Radhika Srinivasan, Chanchal Rana and Shipra Agarwal
Diagnostics 2022, 12(12), 3136; https://doi.org/10.3390/diagnostics12123136 - 12 Dec 2022
Cited by 3 | Viewed by 2082
Abstract
Thyroid carcinomas (TC) are rare in the pediatric population; however, they constitute the most common endocrine malignancy. Despite some similarities with adult carcinomas, they have distinct clinical behavior and responses to therapy due to their unique pathology and molecular characteristics. The age cut-off [...] Read more.
Thyroid carcinomas (TC) are rare in the pediatric population; however, they constitute the most common endocrine malignancy. Despite some similarities with adult carcinomas, they have distinct clinical behavior and responses to therapy due to their unique pathology and molecular characteristics. The age cut-off used for defining the pediatric age group has been variable across different studies, and the universally accepted recommendations influence accurate interpretation of the available data. Moreover, factors such as radiation exposure and germline mutations have greater impact in children than in adults. Papillary TC is the most common and the most evaluated pediatric TC. Others, including follicular, poorly differentiated and medullary carcinomas, are rarer and have limited available literature. Most studies are from the West. Asian studies are primarily from Japan, with few from China, India, Saudi Arabia and Republic of Korea. This review provides a comprehensive account of the well-established and novel biomarkers in the field, including point mutations, fusions, miRNA, and thyroid differentiation genes. Familial and syndromic associations are also discussed. Current management guidelines for pediatric patients are largely derived from those for adults. An awareness of the molecular landscape is essential to acknowledge the uniqueness of these tumors and establish specific diagnostic and therapeutic guidelines. Full article
(This article belongs to the Special Issue New Entities, New Approaches of Endocrine Diseases)
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21 pages, 425 KiB  
Review
Approach of Multiple Endocrine Neoplasia Type 1 (MEN1) Syndrome–Related Skin Tumors
by Livia-Cristiana Băicoianu-Nițescu, Ana-Maria Gheorghe, Mara Carsote, Mihai Cristian Dumitrascu and Florica Sandru
Diagnostics 2022, 12(11), 2768; https://doi.org/10.3390/diagnostics12112768 - 12 Nov 2022
Cited by 2 | Viewed by 1670
Abstract
Non-endocrine findings in patients with MEN1 (multiple endocrine neoplasia) syndrome also include skin lesions, especially tumor-type lesions. This is a narrative review of the English-language medical literature including original studies concerning MEN1 and dermatological issues (apart from dermatologic features of each endocrine tumor/neuroendocrine [...] Read more.
Non-endocrine findings in patients with MEN1 (multiple endocrine neoplasia) syndrome also include skin lesions, especially tumor-type lesions. This is a narrative review of the English-language medical literature including original studies concerning MEN1 and dermatological issues (apart from dermatologic features of each endocrine tumor/neuroendocrine neoplasia), identified through a PubMed-based search (based on clinical relevance, with no timeline restriction or concern regarding the level of statistical significance). We identified 27 original studies involving clinical presentation of patients with MEN1 and cutaneous tumors; eight other original studies that also included the genetic background; and four additional original studies were included. The largest cohorts were from studies in Italy (N = 145 individuals), Spain (N = 90), the United States (N = 48 and N = 32), and Japan (N = 28). The age of patients varied from 18 to 76 years, with the majority of individuals in their forties. The most common cutaneous tumors are angiofibromas (AF), collagenomas (CG), and lipomas (L). Other lesions are atypical nevi, basocellular carcinoma, squamous cell carcinoma, acrochordons, papillomatosis confluens et reticularis, gingival papules, and cutaneous T-cell lymphoma of the eyelid. Non-tumor aspects are confetti-like hypopigmentation, café-au-lait macules, and gingival papules. MEN1 gene, respective menin involvement has also been found in melanomas, but the association with MEN1 remains debatable. Typically, cutaneous tumors (AF, CG, and L) are benign and are surgically treated only for cosmetic reasons. Some of them are reported as first presentation. Even though skin lesions are not pathognomonic, recognizing them plays an important role in early identification of MEN1 patients. Whether a subgroup of MEN1 subjects is prone to developing these types of cutaneous lesions and how they influence MEN1 evolution is still an open issue. Full article
(This article belongs to the Special Issue New Entities, New Approaches of Endocrine Diseases)

Other

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12 pages, 2049 KiB  
Case Report
SHOX Deletion and Idiopathic Short Stature: What Does the Clinician Need to Know? Case Series Report
by Maria-Christina Ungureanu, Anamaria Hrisca, Lavinia Caba, Laura Teodoriu, Stefana Bilha, Cristina Preda and Letitia Leustean
Diagnostics 2023, 13(1), 105; https://doi.org/10.3390/diagnostics13010105 - 29 Dec 2022
Viewed by 4965
Abstract
Children diagnosticated with idiopathic short stature (ISS) are probably, in most cases, underdiagnosticated. The genetic causes of ISS may be mutations of genes involved in local regulation of the growth plate or genes involved in the GH-IGF1 axis physiology. We present a kindred [...] Read more.
Children diagnosticated with idiopathic short stature (ISS) are probably, in most cases, underdiagnosticated. The genetic causes of ISS may be mutations of genes involved in local regulation of the growth plate or genes involved in the GH-IGF1 axis physiology. We present a kindred of five children evaluated for short stature or low normal stature, initially diagnosticated as idiopathic short stature, familial short stature, or being small for gestational age. Clinical signs suggestive of SHOX deletion screening in a child with short stature are low arm span/height ratio, increased sitting height/height ratio, BMI > 50% percentile, Madelung deformity, cubitus valgus, bowing and shortening of the forearm, dislocation of the ulna (at the elbow), and the appearance of muscular hypertrophy. Radiological characteristics suggestive of SHOX deficiency are triangularisation of the distal radial epiphysis, an enlarged diaphysis of the radius plus bowing of the radius, the convexity of the distal radial metaphysis, short fourth and fifth metacarpals, pyramidalization of the carpal row. Treatment with rGH is approved for children with SHOX gene deficiency and short stature. This kindred is an example that familial short stature, idiopathic short stature, and short stature due to a small gestational age are not final diagnoses. Complex investigations are necessary to identify the precise cause, leading to optimal clinical management. Treatment with rGH is an option for some of them; for others, it has no therapeutic response and, in some cases, is even harmful. Full article
(This article belongs to the Special Issue New Entities, New Approaches of Endocrine Diseases)
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