Title
Van Wyk-Grumbach syndrome and its clinical heterogeneity: A case report
Authors
Krisha Jain1,*, Shreya Siera Honarius2, Reema Reji3, Ravi Sangoi1, Saurabh Mutha1 & Mayur Wanjari4
Affiliation
1Department of Internal Medicine, Government Medical College and General Hospital, Baramati, Pune, Maharashtra, India; 2St. John's Medical College, Bangalore, India; 3Department of Paediatrics, KM Cherian Institute of Medical Sciences, Kallissery, Chengannur, India; 4Department of Research, Datta Meghe Institute of Higher Education & Research (DMIHER), Sawangi, Maharashtra, India; *Corresponding author
Krisha Jain - E - mail: jkrisha00@gmail.com; Phone: +91 9940543431
Shreya Sierra - E - mail: drssh2312@gmail.com; Phone: +91 9742240605
Reema Reji - E - mail: reemareji14@gmail.com; Phone: +91 9207114535
Ravi Sangoi - E - mail: ravisangoi35@gmail.com; Phone: +91 9022059548
Saurabh Mutha - E - mail: yogi.ycns@gmail.com; Phone: +91 7057477636
Mayur Wanjari - E - mail: Wanjari605@gmail.com; Phone: +91 8007356104
Article Type
Views
Date
Received October 1, 2024; Revised October 31, 2024; Accepted October 31, 2024, Published October 31, 2024
Abstract
This case report presents a 6-year-old female with Van Wyk-Grumbach syndrome, highlighting its astounding clinical presentations and the challenges in its diagnosis and management. Although the disease is rare, Van Wyk-Grumbach Syndrome can have a devastating and serious impact in young boys and girls by affecting their hypothalamic-pituitary-gonadal axis. The enhancement in the medical knowledge has shown promising results in the complete treatment of the condition and superior diagnostic accuracy with suitable and necessary interventions. Treatment of Van Wyk-Grumbach Syndrome remains solely through the hormone replacement therapy of thyroid, which usually leads to complete relief of symptoms. This case highlights the unusual clinical presentation of a young female patient with Van Wyk-Grumbach Syndrome, challenging the existing diagnostic profiles and highlighting the need for personalized assessment for the patient. Since the diagnosis of this syndrome is based on the USG, MRI, X-Ray findings, enhancement in these imagining techniques will lead to increased accuracy and reduced delay in its diagnosis. This case aims to enhance the understanding of Van Wyk-Grumbach Syndrome, its medical heterogeneity and the need to advance its diagnostic and interventional prospects.
Keywords
Hypothyroidism, endocrine disease, precocious puberty, menarche
Citation
Jain et al. Bioinformation 20(10): 1317-1320 (2024)
Edited by
Hiroj Bagde MDS, (PhD), PGDCR, PGDHHM, PGDL, PGDM
ISSN
0973-2063
Publisher
License
This is an Open Access article which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. This is distributed under the terms of the Creative Commons Attribution License.
