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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...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2023
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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). |
format | Online Article Text |
id | pubmed-10418305 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
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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