E-ISSN 2534-9821
 

Case Report 


A severe case of testotoxicosis in an infant due to a c.1732G>C (p.ASP578His) LHCGR gene mutation associated with nodular Leydig cell hyperplasia

Amrit Bhangoo, Peter Zhan Tao Wang, Irene Young, Aaron Sassoon, Roberto Taguibao, Antoine Khoury.

Abstract
Introduction: Testotoxicosis is a rare gonadotropin-independent form of precocious puberty. Herein we discuss a uniquely severe case of severe testotoxicosis in infant male with a c.1732G>C (p.ASP578His) LHCGR gene mutation requiring surgical intervention.
Case Description: This 9-month-old male initially presented with extremely elevated levels of testosterone (1383 ng/dl) and undetectable ultrasensitive LH and FSH titers. On physical exam he was Tanner stage 3. Scrotal ultrasound showed multiple bilateral nodular hypoechoic lesions. A genomic DNA 1732G->C mutation within the LHCGR gene leading to a p.Asp578His amino acid change was confirmed on genetic testing. Combination medical therapy with an androgen receptor blocker and aromatase inhibitor was initiated for testotoxicosis; however, his condition worsened on medical therapy with a further rise in testosterone levels (2177 ng/dl). He subsequently underwent 2 sequential orchiectomies for his condition with both pathologies demonstrating diffuse nodular Leydig cell hyperplasia.
Conclusions
Herein we report the youngest case of medically refractory testotoxicosis associated with progressive bilateral diffuse nodular Leydig cell hyperplasia requiring aggressive surgical intervention. The germline c.1732G>C (p.ASP578His) mutation found in this case was previously described as somatic mutations in 3 boys with benign nodular adenoma of the testes.

Key words: precocious puberty, lhcgr, leydig cell hyperplasia, testotoxicosis, refractory


 
ARTICLE TOOLS
Abstract
PDF Fulltext
Print this article Print this Article
How to cite this articleHow to cite this article
Citation Tools
Related Records
 Articles by Amrit Bhangoo
Articles by Peter Zhan Tao Wang
Articles by Irene Young
Articles by Aaron Sassoon
Articles by Roberto Taguibao
Articles by Antoine Khoury
on Google
on Google Scholar
Article Statistics
 Viewed: 1087
Downloaded: 81
Cited: 0


How to Cite this Article
Pubmed Style

Bhangoo A, Wang PZT, Young I, Sassoon A, Taguibao R, Khoury A. A severe case of testotoxicosis in an infant due to a c.1732G>C (p.ASP578His) LHCGR gene mutation associated with nodular Leydig cell hyperplasia. Int J Med Rev Case Rep. 2019; 3(2): 87-90. doi:10.5455/IJMRCR.Leydig-cell-hyperplasia-mutation


Web Style

Bhangoo A, Wang PZT, Young I, Sassoon A, Taguibao R, Khoury A. A severe case of testotoxicosis in an infant due to a c.1732G>C (p.ASP578His) LHCGR gene mutation associated with nodular Leydig cell hyperplasia. http://mdpub.net/?mno=5455 [Access: May 27, 2019]. doi:10.5455/IJMRCR.Leydig-cell-hyperplasia-mutation


AMA (American Medical Association) Style

Bhangoo A, Wang PZT, Young I, Sassoon A, Taguibao R, Khoury A. A severe case of testotoxicosis in an infant due to a c.1732G>C (p.ASP578His) LHCGR gene mutation associated with nodular Leydig cell hyperplasia. Int J Med Rev Case Rep. 2019; 3(2): 87-90. doi:10.5455/IJMRCR.Leydig-cell-hyperplasia-mutation



Vancouver/ICMJE Style

Bhangoo A, Wang PZT, Young I, Sassoon A, Taguibao R, Khoury A. A severe case of testotoxicosis in an infant due to a c.1732G>C (p.ASP578His) LHCGR gene mutation associated with nodular Leydig cell hyperplasia. Int J Med Rev Case Rep. (2019), [cited May 27, 2019]; 3(2): 87-90. doi:10.5455/IJMRCR.Leydig-cell-hyperplasia-mutation



Harvard Style

Bhangoo, A., Wang, . P. Z. T., Young, . I., Sassoon, . A., Taguibao, . R. & Khoury, . A. (2019) A severe case of testotoxicosis in an infant due to a c.1732G>C (p.ASP578His) LHCGR gene mutation associated with nodular Leydig cell hyperplasia. Int J Med Rev Case Rep, 3 (2), 87-90. doi:10.5455/IJMRCR.Leydig-cell-hyperplasia-mutation



Turabian Style

Bhangoo, Amrit, Peter Zhan Tao Wang, Irene Young, Aaron Sassoon, Roberto Taguibao, and Antoine Khoury. 2019. A severe case of testotoxicosis in an infant due to a c.1732G>C (p.ASP578His) LHCGR gene mutation associated with nodular Leydig cell hyperplasia. International Journal of Medical Reviews and Case Reports, 3 (2), 87-90. doi:10.5455/IJMRCR.Leydig-cell-hyperplasia-mutation



Chicago Style

Bhangoo, Amrit, Peter Zhan Tao Wang, Irene Young, Aaron Sassoon, Roberto Taguibao, and Antoine Khoury. "A severe case of testotoxicosis in an infant due to a c.1732G>C (p.ASP578His) LHCGR gene mutation associated with nodular Leydig cell hyperplasia." International Journal of Medical Reviews and Case Reports 3 (2019), 87-90. doi:10.5455/IJMRCR.Leydig-cell-hyperplasia-mutation



MLA (The Modern Language Association) Style

Bhangoo, Amrit, Peter Zhan Tao Wang, Irene Young, Aaron Sassoon, Roberto Taguibao, and Antoine Khoury. "A severe case of testotoxicosis in an infant due to a c.1732G>C (p.ASP578His) LHCGR gene mutation associated with nodular Leydig cell hyperplasia." International Journal of Medical Reviews and Case Reports 3.2 (2019), 87-90. Print. doi:10.5455/IJMRCR.Leydig-cell-hyperplasia-mutation



APA (American Psychological Association) Style

Bhangoo, A., Wang, . P. Z. T., Young, . I., Sassoon, . A., Taguibao, . R. & Khoury, . A. (2019) A severe case of testotoxicosis in an infant due to a c.1732G>C (p.ASP578His) LHCGR gene mutation associated with nodular Leydig cell hyperplasia. International Journal of Medical Reviews and Case Reports, 3 (2), 87-90. doi:10.5455/IJMRCR.Leydig-cell-hyperplasia-mutation