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Transient Neonatal Diabetes Mellitus in SHORT Syndrome: A Case Report

SHORT syndrome is a rare autosomal dominant disorder characterized by multiple congenital defects and is historically defined by its acronym: short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger anomaly, and teething delay. Herein, we report a male infant wit...

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Autores principales: Kim, Shin-Hee, Kim, Minsung, Yim, Jisook, Kim, Myungshin, Jang, Dae-Hyun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8261148/
https://www.ncbi.nlm.nih.gov/pubmed/34249805
http://dx.doi.org/10.3389/fped.2021.650920
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author Kim, Shin-Hee
Kim, Minsung
Yim, Jisook
Kim, Myungshin
Jang, Dae-Hyun
author_facet Kim, Shin-Hee
Kim, Minsung
Yim, Jisook
Kim, Myungshin
Jang, Dae-Hyun
author_sort Kim, Shin-Hee
collection PubMed
description SHORT syndrome is a rare autosomal dominant disorder characterized by multiple congenital defects and is historically defined by its acronym: short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger anomaly, and teething delay. Herein, we report a male infant with SHORT syndrome who presented with transient neonatal diabetes mellitus (TNDM) with insulin resistance. The proband was born at 38 weeks of gestation but displayed facial dysmorphic features. Intrauterine growth restriction (IUGR) was detected on a prenatal ultrasonography test. His birth weight was 1.8 kg (<3rd percentile), length 44 cm (<3rd percentile), and head circumference 31 cm (<3rd percentile). The patient's blood glucose level started to increase at 5 days of age (218–263 mg/dl) and remained high at 20 days of age (205–260 mg/dl). He was treated with subcutaneous insulin and the blood glucose level gradually stabilized. Blood glucose level was stabilized over time without insulin treatment at 6 weeks of age. Clinical exome sequencing showed a heterozygous pathogenic variant, NM_181523.3:c.1945C>T (p.Arg649Trp) in exon 15 of the phosphoinositide-3-kinase regulatory subunit 1 (PIK3R1) known as the causative gene for SHORT syndrome. Examination of the patient at 10 months of age revealed no hyperglycemic episode and glycated hemoglobin level was 5.2%. To the best of our knowledge, this is the first case of TNDM in SHORT syndrome due to a pathogenic variant of PIK3R1. We believe that our case can aid in expanding the phenotypes of SHORT syndrome.
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spelling pubmed-82611482021-07-08 Transient Neonatal Diabetes Mellitus in SHORT Syndrome: A Case Report Kim, Shin-Hee Kim, Minsung Yim, Jisook Kim, Myungshin Jang, Dae-Hyun Front Pediatr Pediatrics SHORT syndrome is a rare autosomal dominant disorder characterized by multiple congenital defects and is historically defined by its acronym: short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger anomaly, and teething delay. Herein, we report a male infant with SHORT syndrome who presented with transient neonatal diabetes mellitus (TNDM) with insulin resistance. The proband was born at 38 weeks of gestation but displayed facial dysmorphic features. Intrauterine growth restriction (IUGR) was detected on a prenatal ultrasonography test. His birth weight was 1.8 kg (<3rd percentile), length 44 cm (<3rd percentile), and head circumference 31 cm (<3rd percentile). The patient's blood glucose level started to increase at 5 days of age (218–263 mg/dl) and remained high at 20 days of age (205–260 mg/dl). He was treated with subcutaneous insulin and the blood glucose level gradually stabilized. Blood glucose level was stabilized over time without insulin treatment at 6 weeks of age. Clinical exome sequencing showed a heterozygous pathogenic variant, NM_181523.3:c.1945C>T (p.Arg649Trp) in exon 15 of the phosphoinositide-3-kinase regulatory subunit 1 (PIK3R1) known as the causative gene for SHORT syndrome. Examination of the patient at 10 months of age revealed no hyperglycemic episode and glycated hemoglobin level was 5.2%. To the best of our knowledge, this is the first case of TNDM in SHORT syndrome due to a pathogenic variant of PIK3R1. We believe that our case can aid in expanding the phenotypes of SHORT syndrome. Frontiers Media S.A. 2021-06-23 /pmc/articles/PMC8261148/ /pubmed/34249805 http://dx.doi.org/10.3389/fped.2021.650920 Text en Copyright © 2021 Kim, Kim, Yim, Kim and Jang. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Pediatrics
Kim, Shin-Hee
Kim, Minsung
Yim, Jisook
Kim, Myungshin
Jang, Dae-Hyun
Transient Neonatal Diabetes Mellitus in SHORT Syndrome: A Case Report
title Transient Neonatal Diabetes Mellitus in SHORT Syndrome: A Case Report
title_full Transient Neonatal Diabetes Mellitus in SHORT Syndrome: A Case Report
title_fullStr Transient Neonatal Diabetes Mellitus in SHORT Syndrome: A Case Report
title_full_unstemmed Transient Neonatal Diabetes Mellitus in SHORT Syndrome: A Case Report
title_short Transient Neonatal Diabetes Mellitus in SHORT Syndrome: A Case Report
title_sort transient neonatal diabetes mellitus in short syndrome: a case report
topic Pediatrics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8261148/
https://www.ncbi.nlm.nih.gov/pubmed/34249805
http://dx.doi.org/10.3389/fped.2021.650920
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