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Myhre syndrome: the first case in Korea

Myhre syndrome (MS) is a rare autosomal-dominant disorder characterized by short stature, intellectual disability, skeletal anomalies, restricted joint mobility, distinctive facial dysmorphism, and deafness. Early diagnosis of MS is difficult because its features progress and become noticeable at sc...

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Autores principales: Lim, Dongjin, Kim, Jae Hyun, Lee, Jieun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Society of Pediatric Endocrinology 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8505036/
https://www.ncbi.nlm.nih.gov/pubmed/34015905
http://dx.doi.org/10.6065/apem.2040214.107
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author Lim, Dongjin
Kim, Jae Hyun
Lee, Jieun
author_facet Lim, Dongjin
Kim, Jae Hyun
Lee, Jieun
author_sort Lim, Dongjin
collection PubMed
description Myhre syndrome (MS) is a rare autosomal-dominant disorder characterized by short stature, intellectual disability, skeletal anomalies, restricted joint mobility, distinctive facial dysmorphism, and deafness. Early diagnosis of MS is difficult because its features progress and become noticeable at school age. Recently, the SMAD4 gene was identified as the major gene responsible for MS. Herein, we report the first Korean case of MS after identification of a SMAD4 mutation by clinical exome sequencing. The patient was born small for gestational age, and she had the typical clinical features of MS, including short stature, characteristic facial appearance, developmental delay, and selective mutism. She was diagnosed with central precocious puberty. Because of the patient’s precocious puberty and short stature, we administered combined recombinant human growth hormone and gonadotropin-releasing hormone agonist treatments, which resulted in improved height. While there have been 79 cases of MS reported worldwide, to our knowledge, this is the first case of genetically-confirmed MS in Korea.
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spelling pubmed-85050362021-10-21 Myhre syndrome: the first case in Korea Lim, Dongjin Kim, Jae Hyun Lee, Jieun Ann Pediatr Endocrinol Metab Case Report Myhre syndrome (MS) is a rare autosomal-dominant disorder characterized by short stature, intellectual disability, skeletal anomalies, restricted joint mobility, distinctive facial dysmorphism, and deafness. Early diagnosis of MS is difficult because its features progress and become noticeable at school age. Recently, the SMAD4 gene was identified as the major gene responsible for MS. Herein, we report the first Korean case of MS after identification of a SMAD4 mutation by clinical exome sequencing. The patient was born small for gestational age, and she had the typical clinical features of MS, including short stature, characteristic facial appearance, developmental delay, and selective mutism. She was diagnosed with central precocious puberty. Because of the patient’s precocious puberty and short stature, we administered combined recombinant human growth hormone and gonadotropin-releasing hormone agonist treatments, which resulted in improved height. While there have been 79 cases of MS reported worldwide, to our knowledge, this is the first case of genetically-confirmed MS in Korea. Korean Society of Pediatric Endocrinology 2021-09 2021-05-12 /pmc/articles/PMC8505036/ /pubmed/34015905 http://dx.doi.org/10.6065/apem.2040214.107 Text en © 2021 Annals of Pediatric Endocrinology & Metabolism https://creativecommons.org/licenses/by-nc/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/ (https://creativecommons.org/licenses/by-nc/4.0/) ) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Lim, Dongjin
Kim, Jae Hyun
Lee, Jieun
Myhre syndrome: the first case in Korea
title Myhre syndrome: the first case in Korea
title_full Myhre syndrome: the first case in Korea
title_fullStr Myhre syndrome: the first case in Korea
title_full_unstemmed Myhre syndrome: the first case in Korea
title_short Myhre syndrome: the first case in Korea
title_sort myhre syndrome: the first case in korea
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8505036/
https://www.ncbi.nlm.nih.gov/pubmed/34015905
http://dx.doi.org/10.6065/apem.2040214.107
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