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Step-by-Step Double-Trouble OBAIRH and DMD Diagnosis in a One-Year-Old Boy

We present a case of a combination of two rare hereditary disorders: obesity, adrenal insufficiency and red hair syndrome (OBAIRH) and Duchenne muscular dystrophy (DMD) in a boy. Both diseases were diagnosed during the first year of life. OBAIRH was suggested based on the ethnicity and family histor...

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Autores principales: Shchagina, Olga, Kurilova, Vera, Zinina, Elena, Porubov, Vyacheslav, Efishova, Svetlana, Polyakov, Aleksander
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10418305/
https://www.ncbi.nlm.nih.gov/pubmed/37569734
http://dx.doi.org/10.3390/ijms241512357
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author Shchagina, Olga
Kurilova, Vera
Zinina, Elena
Porubov, Vyacheslav
Efishova, Svetlana
Polyakov, Aleksander
author_facet Shchagina, Olga
Kurilova, Vera
Zinina, Elena
Porubov, Vyacheslav
Efishova, Svetlana
Polyakov, Aleksander
author_sort Shchagina, Olga
collection PubMed
description We present a case of a combination of two rare hereditary disorders: obesity, adrenal insufficiency and red hair syndrome (OBAIRH) and Duchenne muscular dystrophy (DMD) in a boy. Both diseases were diagnosed during the first year of life. OBAIRH was suggested based on the ethnicity and family history of the patient, while DMD was based on an extreme increase in transaminase and CK (creatine kinase) levels during a biochemical analysis of his blood. The OBAIRH syndrome was caused by a pathogenic homozygous variant in the regulatory region of the POMC gene (NM_001035256.3): c.-71+1G>A, while DMD was caused by the de novo deletion of exons 38–45 of the DMD (NM_004006.3) gene (NC_000023.10:g.(?_32380941)(31950285_?)del).
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spelling pubmed-104183052023-08-12 Step-by-Step Double-Trouble OBAIRH and DMD Diagnosis in a One-Year-Old Boy Shchagina, Olga Kurilova, Vera Zinina, Elena Porubov, Vyacheslav Efishova, Svetlana Polyakov, Aleksander Int J Mol Sci Case Report We present a case of a combination of two rare hereditary disorders: obesity, adrenal insufficiency and red hair syndrome (OBAIRH) and Duchenne muscular dystrophy (DMD) in a boy. Both diseases were diagnosed during the first year of life. OBAIRH was suggested based on the ethnicity and family history of the patient, while DMD was based on an extreme increase in transaminase and CK (creatine kinase) levels during a biochemical analysis of his blood. The OBAIRH syndrome was caused by a pathogenic homozygous variant in the regulatory region of the POMC gene (NM_001035256.3): c.-71+1G>A, while DMD was caused by the de novo deletion of exons 38–45 of the DMD (NM_004006.3) gene (NC_000023.10:g.(?_32380941)(31950285_?)del). MDPI 2023-08-02 /pmc/articles/PMC10418305/ /pubmed/37569734 http://dx.doi.org/10.3390/ijms241512357 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Shchagina, Olga
Kurilova, Vera
Zinina, Elena
Porubov, Vyacheslav
Efishova, Svetlana
Polyakov, Aleksander
Step-by-Step Double-Trouble OBAIRH and DMD Diagnosis in a One-Year-Old Boy
title Step-by-Step Double-Trouble OBAIRH and DMD Diagnosis in a One-Year-Old Boy
title_full Step-by-Step Double-Trouble OBAIRH and DMD Diagnosis in a One-Year-Old Boy
title_fullStr Step-by-Step Double-Trouble OBAIRH and DMD Diagnosis in a One-Year-Old Boy
title_full_unstemmed Step-by-Step Double-Trouble OBAIRH and DMD Diagnosis in a One-Year-Old Boy
title_short Step-by-Step Double-Trouble OBAIRH and DMD Diagnosis in a One-Year-Old Boy
title_sort step-by-step double-trouble obairh and dmd diagnosis in a one-year-old boy
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10418305/
https://www.ncbi.nlm.nih.gov/pubmed/37569734
http://dx.doi.org/10.3390/ijms241512357
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