Endocrine System Disease: Diagnosis and Management

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

Deadline for manuscript submissions: 31 July 2025 | Viewed by 198

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Department of Surgery, College of Medicine, The Catholic University of Korea, Seoul 06591, Republic of Korea
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Special Issue Information

Dear Colleagues,

This Special Issue, titled "Endocrine System Disease: Diagnosis and Management", focuses on the diagnostic aspects of endocrine disorders. It presents a thorough exploration of advanced diagnostic methodologies and technologies employed in identifying various endocrine system diseases. Featured articles discuss the latest developments in biochemical assays, imaging techniques such as MRI and CT scans, and genetic testing, which play crucial roles in pinpointing the specific causes of endocrine imbalances. Expert contributions illuminate the nuances of differential diagnosis, emphasizing the importance of a meticulous clinical evaluation combined with precise diagnostic tools to ensure the accurate identification of endocrine conditions. This comprehensive issue aims to empower healthcare professionals with the knowledge and skills necessary to enhance their diagnostic accuracy for managing endocrine system diseases.

Dr. Kwangsoon Kim
Guest Editor

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Keywords

  • endocrine system disease
  • hormonal imbalance
  • diagnosis
  • hormone replacement therapy
  • pathophysiology

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Published Papers (1 paper)

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11 pages, 627 KiB  
Case Report
STAG1 Disease, Central Precocious Puberty, and Bone Fragility—A Case Report
by Rebecca-Cristiana Șerban, Andreea-Mădălina Mituț-Velișcu, Andrei Costache, Luminița-Nicoleta Cima, Carmen Niculescu, Aritina Moroșanu, Anca-Lelia Riza and Ioana Streață
Diagnostics 2025, 15(9), 1076; https://doi.org/10.3390/diagnostics15091076 - 24 Apr 2025
Abstract
Background: Previously reported STAG1 gene-related cohesinopathies describe a range of clinical features, typically including intellectual disability (ID), facial dysmorphisms, and limb anomalies. Case presentation: We present the case of an 8-year-old girl with main findings including ID, central precocious puberty (CPP), [...] Read more.
Background: Previously reported STAG1 gene-related cohesinopathies describe a range of clinical features, typically including intellectual disability (ID), facial dysmorphisms, and limb anomalies. Case presentation: We present the case of an 8-year-old girl with main findings including ID, central precocious puberty (CPP), and bone fragility. Panel genetic testing revealed a pathogenic STAG1 variant, NM_005862.3:c.2116del p.(Asp706Ilefs*15), which can only partially explain the clinical phenotype. Reports of STAG1-related cohesinopathies, including ours, have consistently described developmental and intellectual disabilities. In our case, the etiology of CPP and bone fragility remains unexplained. We discuss the challenges and limitations of current molecular tools in assessing cases with overlapping, apparently unlinked phenotypes, while speculating whether the common occurrence could be explained by STAG1 instead. Conclusions: The clinical spectrum of cohesinopathies is still poorly understood. Complex phenotypes with apparently unrelated clinical features warrant further careful investigation and illustrate the challenges of molecular diagnosis. Full article
(This article belongs to the Special Issue Endocrine System Disease: Diagnosis and Management)
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