Endocrine disorders in a patient with a suspicion of a mitochondrial disease, MELAS syndrome – a case report and literature review

Marta Baszyńska-Wilk; Elżbieta Moszczyńska; Maria Szarras-Czapnik; Marta Wysocka-Mincewicz; Urszula Wątrobińska; Agata Kozłowska; Mieczysław Szalecki

doi:10.5114/pedm.2021.107713

eISSN: 2083-8441
ISSN: 2081-237X

Pediatric Endocrinology Diabetes and Metabolism

Current issue Archive Manuscripts accepted About the journal Supplements Editorial board Reviewers Abstracting and indexing Subscription Contact Instructions for authors Publication charge Ethical standards and procedures

Editorial System

Submit your Manuscript

Editorial Policies

Sarajevo Declaration on Integrity and Visibility of Scholarly Publications

Open access

Journal integrated with

3/2021
vol. 27

Send email

Copy url:

abstract:

Review paper

Endocrine disorders in a patient with a suspicion of a mitochondrial disease, MELAS syndrome – a case report and literature review

Marta Baszyńska-Wilk

¹

,

Elżbieta Moszczyńska

¹

,

Maria Szarras-Czapnik

¹

,

Marta Wysocka-Mincewicz

¹

,

Urszula Wątrobińska

¹

,

Agata Kozłowska

¹

,

Mieczysław Szalecki

^{1, 2}

Department of Endocrinology and Diabetology, The Children’s Memorial Health Institute, Poland
Collegium Medicum, Jan Kochanowski University, Poland

Pediatr Endocrinol Diabetes Metab 2021; 27 (3): 213–218

DOI: https://doi.org/10.5114/pedm.2021.107713

Online publish date: 2021/09/21

View full text Get citation

EndNote

Papers, Reference Manager, RefWorks, Zotero

AMA

Baszyńska-Wilk M, Moszczyńska E, Szarras-Czapnik M, et al. Endocrine disorders in a patient with a suspicion of a mitochondrial disease, MELAS syndrome – a case report and literature review. Pediatric Endocrinology Diabetes and Metabolism. 2021;27(3):213-218. doi:10.5114/pedm.2021.107713.

APA

Baszyńska-Wilk, M., Moszczyńska, E., Szarras-Czapnik, M., Wysocka-Mincewicz, M., Wątrobińska, U.,  & Kozłowska, A. et al. (2021). Endocrine disorders in a patient with a suspicion of a mitochondrial disease, MELAS syndrome – a case report and literature review. Pediatric Endocrinology Diabetes and Metabolism, 27(3), 213-218. https://doi.org/10.5114/pedm.2021.107713

Chicago

Baszyńska-Wilk, Marta, Elżbieta Moszczyńska, Maria Szarras-Czapnik, Marta Wysocka-Mincewicz, Urszula Wątrobińska, Agata Kozłowska,  and Mieczysław Szalecki. 2021. "Endocrine disorders in a patient with a suspicion of a mitochondrial disease, MELAS syndrome – a case report and literature review". Pediatric Endocrinology Diabetes and Metabolism 27 (3): 213-218. doi:10.5114/pedm.2021.107713.

Harvard

Baszyńska-Wilk, M., Moszczyńska, E., Szarras-Czapnik, M., Wysocka-Mincewicz, M., Wątrobińska, U., Kozłowska, A.,  and Szalecki, M. (2021). Endocrine disorders in a patient with a suspicion of a mitochondrial disease, MELAS syndrome – a case report and literature review. Pediatric Endocrinology Diabetes and Metabolism, 27(3), pp.213-218. https://doi.org/10.5114/pedm.2021.107713

MLA

Baszyńska-Wilk, Marta et al. "Endocrine disorders in a patient with a suspicion of a mitochondrial disease, MELAS syndrome – a case report and literature review." Pediatric Endocrinology Diabetes and Metabolism, vol. 27, no. 3, 2021, pp. 213-218. doi:10.5114/pedm.2021.107713.

Vancouver

Baszyńska-Wilk M, Moszczyńska E, Szarras-Czapnik M, Wysocka-Mincewicz M, Wątrobińska U, Kozłowska A et al. Endocrine disorders in a patient with a suspicion of a mitochondrial disease, MELAS syndrome – a case report and literature review. Pediatric Endocrinology Diabetes and Metabolism. 2021;27(3):213-218. doi:10.5114/pedm.2021.107713.

PlumX metrics:

MELAS syndrome (mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes) is a genetically determined disease caused by mutations in mitochondrial DNA. We present a girl who was suspected of MELAS syndrome during the diagnostic evaluation of short stature. The patient suffered from symptoms potentially indicating mitochondrial disease, such as muscular weakness, cranial nerve VI palsy, headaches, retinitis pigmentosa, sensory-neural hearing loss, and elevated lactic acid. T2–weighted brain MRI showed hyperintense lesions in the white matter. Muscular biopsy revealed ragged red fibres. Genetic evaluation did not detect the most common mutations in the MT-TL1 gene and MT-ND5 gene. Endocrine tests led to the confirmation of growth hormone deficiency, and so replacement treatment was started. After 1 year of recombinant growth hormone therapy the patient was diagnosed with diabetes. At the age of 14 years the LH-RH test showed prepubertal values. Endocrine disorders may be one of the first manifestations of MELAS syndrome. In differential diagnosis of short stature, less common causes, such as mitochondrial diseases, should be taken into consideration.

keywords:

Endocrine disorders in a patient with a suspicion of a mitochondrial disease, MELAS syndrome – a case report and literature review

Marta Baszyńska-Wilk 1 , Elżbieta Moszczyńska 1 , Maria Szarras-Czapnik 1 , Marta Wysocka-Mincewicz 1 , Urszula Wątrobińska 1 , Agata Kozłowska 1 , Mieczysław Szalecki 1, 2

MELAS syndrome, growth hormone deficiency, diabetes

Marta Baszyńska-Wilk

¹

,

Elżbieta Moszczyńska

¹

,

Maria Szarras-Czapnik

¹

,

Marta Wysocka-Mincewicz

¹

,

Urszula Wątrobińska

¹

,

Agata Kozłowska

¹

,

Mieczysław Szalecki

^{1, 2}