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Diagnostics
Special Issues
Recent Advances in Endocrinology Pathology
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Recent Advances in Endocrinology Pathology

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

Deadline for manuscript submissions: 31 October 2025 | Viewed by 565

Special Issue Editors

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
Dr. Ana Valea

E-Mail Website
Guest Editor
1. Department of Endocrinology, “Iuliu Hatieganu” University of Medicine and Pharmacy, 400012 Cluj-Napoca, Romania
2. Department of Endocrinology, County Emergency Clinical Hospital, 400347 Cluj-Napoca, Romania
Interests: endocrine tumors; osteoporosis; thyroid disease; parathyroid; acromegaly; cushing syndrome; insulin resistance; endocrine ultrasound
Dr. Claudiu Nistor

E-Mail Website
Guest Editor
1. Department 4—Cardio-Thoracic Pathology, Thoracic Surgery II Discipline, Faculty of Medicine, “Carol Davila” University of Medicine and Pharmacy, Bucharest, Romania
2. Thoracic Surgery Department, “Dr. Carol Davila” Central Emergency University Military Hospital, 013058 Bucharest, Romania
Interests: thyroid surgery; parathyroid surgery; lung neuroendocrine tumors; lung cancer; minimally invasive surgery; VATS; cervico-mediastinal surgery; thoracic-abdominal surgery; pleuro-pericardial disease; chest wall tumors
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Endocrine conditions display a heterogeneous spectrum of clinical aspects, from diagnosis to practical management. We invite you to contribute one or more articles for this Special Issue in the field of endocrine pathology.

We are particularly interested (but are open to other proposals) in the latest research, guideline updates, current controversies, and unsolved issues, including recent conceptual changes, regarding the following:

  1. Fine-needle aspiration of thyroid nodules, parathyroid masses, and neck lymph nodes;
  2. The potential gap between pre-operative assessments and post-thyroidectomy results;
  3. Single and multi-glandular parathyroid disease, parathyromatosis;
  4. Unusual ectopic locations of the endocrine glands;
  5. Thyroid malignancy and autoimmune thyroid disease: new molecular markers;
  6. Parathyroid and bone disease in chronic renal failure;
  7. Multi-organ, including new markers, in diabetic bone disease;
  8. Novel genetic and molecular testing in radioiodine-refractory thyroid cancer;
  9. Multi-modal decision in advanced, metastatic thyroid malignancies and surgery candidates;
  10. Landscape of clinical and pathological insights amid functioning or non-functioning endocrine tumors.

Dr. Mara Carsote
Dr. Ana Valea
Dr. Claudiu Nistor
Guest Editors

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

  • histological classification and reporting
  • cytological analysis
  • fine-needle aspiration
  • molecular markers
  • immunohistochemistry
  • hormone
  • dynamic hormonal testing
  • endocrine tumors

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Published Papers (1 paper)

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Research

13 pages, 807 KiB  
Article
Gonadal Dysfunction in Wolfram Syndrome: A Prospective Study
by Gema Esteban-Bueno and Juan Luis Fernández-Martínez
Diagnostics 2025, 15(13), 1594; https://doi.org/10.3390/diagnostics15131594 - 24 Jun 2025
Viewed by 416
Abstract
Background: Wolfram syndrome (WFS), also known as DIDMOAD, is a rare monogenic neurodegenerative disorder characterized by four key components: non-autoimmune insulin-dependent diabetes mellitus (DM), optic atrophy, sensorineural hearing loss, and diabetes insipidus. Although it significantly affects quality of life, gonadal dysfunction, particularly hypogonadism, [...] Read more.
Background: Wolfram syndrome (WFS), also known as DIDMOAD, is a rare monogenic neurodegenerative disorder characterized by four key components: non-autoimmune insulin-dependent diabetes mellitus (DM), optic atrophy, sensorineural hearing loss, and diabetes insipidus. Although it significantly affects quality of life, gonadal dysfunction, particularly hypogonadism, remains underrecognized. Methods: In total, 45 patients (25 men, 20 women) with genetically confirmed WFS from a single tertiary-care center were prospectively followed to assess gonadal function. Men underwent hormonal evaluations, semen analysis, imaging tests, and testicular biopsies. In women, data on age at menarche, menstrual irregularities, and age at menopause were recorded. Hormonal analyses, including anti-Müllerian hormone (AMH) levels, and imaging tests were also conducted. Results: Hypogonadism was identified in 19 men (76.0%), of whom 17 (68.0%) had hypergonadotropic hypogonadism and 2 (8.0%) had hypogonadotropic hypogonadism. Testicular biopsies showed seminiferous tubule damage, Sertoli cell predominance, and reduced Leydig cells. Azoospermia was observed in 12 patients, whereas others presented with oligozoospermia, teratozoospermia, or asthenozoospermia. Most patients exhibited low testosterone levels along with elevated LH and FSH, suggesting primary testicular failure, except for two cases of hypogonadotropic hypogonadism. Correlations between biomarkers, onset age and severity have been analyzed and provide important insights regarding medical treatment. In women, menstrual irregularities were universal, with 20% experiencing premature menopause. Four patients had low AMH levels, with ovarian atrophy in three and a postmenopausal uterus in two, indicating early hypogonadism risk. Conclusions: Gonadal dysfunction is a significant yet overlooked feature of WFS, requiring systematic evaluation during puberty and beyond. Proper management is essential to mitigate metabolic disturbances and psychological impacts, including infertility distress, relationship challenges, and quality of life concerns. Addressing sexual health is crucial as WFS patients live longer and aspire to establish relationships or start families. Full article
(This article belongs to the Special Issue Recent Advances in Endocrinology Pathology)
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