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An unusual case of adolescent type 2 diabetes mellitus: Prader–Willi syndrome

Prader–Willi syndrome (PWS) is a complex genetic disorder, characterized by neonatal hypotonia, developmental delay, short stature, childhood obesity, hypogonadism, and characteristic facial features. Here we report a 21-year-old male who presented with uncontrolled glycemic status. He was diagnosed...

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Autores principales: Basheer, Riyas, Jalal, Muhammed Jasim Abdul, Gomez, Ramesh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4943134/
https://www.ncbi.nlm.nih.gov/pubmed/27453871
http://dx.doi.org/10.4103/2249-4863.184661
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author Basheer, Riyas
Jalal, Muhammed Jasim Abdul
Gomez, Ramesh
author_facet Basheer, Riyas
Jalal, Muhammed Jasim Abdul
Gomez, Ramesh
author_sort Basheer, Riyas
collection PubMed
description Prader–Willi syndrome (PWS) is a complex genetic disorder, characterized by neonatal hypotonia, developmental delay, short stature, childhood obesity, hypogonadism, and characteristic facial features. Here we report a 21-year-old male who presented with uncontrolled glycemic status. He was diagnosed to have diabetes mellitus at the age of 15 with osmotic symptoms – polyuria, polydipsia, and polyphagia. In the early period, after diagnosis, his blood sugars were reasonably controlled with oral hypoglycemic agents. However, a year back, he was switched onto insulin therapy due to secondary OHA failure. On examination, his body mass index was 36 kg/m(2). He had bilateral gynecomastia, decreased biparietal diameter, almond shaped eyes with esotropia. He had hypogonadism and also had mild cognitive impairment. He did not have any proximal myopathy or other focal neurological deficits. Hormonal evaluation showed low testosterone and inappropriately normal fluorescence in situ hybridization suggestive of central hypogonadism. With fetal and neonatal hypotonia, delayed developmental milestones, hypogonadism, and early onset diabetes, he fulfilled the clinical criteria for the diagnosis of PWS. Multidisciplinary approach of clinicians together with family and social support are essential to bring out the optimal outcome for such syndromic cases.
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spelling pubmed-49431342016-07-22 An unusual case of adolescent type 2 diabetes mellitus: Prader–Willi syndrome Basheer, Riyas Jalal, Muhammed Jasim Abdul Gomez, Ramesh J Family Med Prim Care Case Report Prader–Willi syndrome (PWS) is a complex genetic disorder, characterized by neonatal hypotonia, developmental delay, short stature, childhood obesity, hypogonadism, and characteristic facial features. Here we report a 21-year-old male who presented with uncontrolled glycemic status. He was diagnosed to have diabetes mellitus at the age of 15 with osmotic symptoms – polyuria, polydipsia, and polyphagia. In the early period, after diagnosis, his blood sugars were reasonably controlled with oral hypoglycemic agents. However, a year back, he was switched onto insulin therapy due to secondary OHA failure. On examination, his body mass index was 36 kg/m(2). He had bilateral gynecomastia, decreased biparietal diameter, almond shaped eyes with esotropia. He had hypogonadism and also had mild cognitive impairment. He did not have any proximal myopathy or other focal neurological deficits. Hormonal evaluation showed low testosterone and inappropriately normal fluorescence in situ hybridization suggestive of central hypogonadism. With fetal and neonatal hypotonia, delayed developmental milestones, hypogonadism, and early onset diabetes, he fulfilled the clinical criteria for the diagnosis of PWS. Multidisciplinary approach of clinicians together with family and social support are essential to bring out the optimal outcome for such syndromic cases. Medknow Publications & Media Pvt Ltd 2016 /pmc/articles/PMC4943134/ /pubmed/27453871 http://dx.doi.org/10.4103/2249-4863.184661 Text en Copyright: © Journal of Family Medicine and Primary Care http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 3.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as the author is credited and the new creations are licensed under the identical terms.
spellingShingle Case Report
Basheer, Riyas
Jalal, Muhammed Jasim Abdul
Gomez, Ramesh
An unusual case of adolescent type 2 diabetes mellitus: Prader–Willi syndrome
title An unusual case of adolescent type 2 diabetes mellitus: Prader–Willi syndrome
title_full An unusual case of adolescent type 2 diabetes mellitus: Prader–Willi syndrome
title_fullStr An unusual case of adolescent type 2 diabetes mellitus: Prader–Willi syndrome
title_full_unstemmed An unusual case of adolescent type 2 diabetes mellitus: Prader–Willi syndrome
title_short An unusual case of adolescent type 2 diabetes mellitus: Prader–Willi syndrome
title_sort unusual case of adolescent type 2 diabetes mellitus: prader–willi syndrome
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4943134/
https://www.ncbi.nlm.nih.gov/pubmed/27453871
http://dx.doi.org/10.4103/2249-4863.184661
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