Severe Short Stature in an Adolescent Male with Prader-Willi Syndrome and Congenital Adrenal Hyperplasia: A Therapeutic Conundrum

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency results in excess androgen production which can lead to early epiphyseal fusion and short stature. Prader-Willi syndrome (PWS) is a genetic disorder resulting from a defect on chromosome 15 due to paternal deletion, maternal unipa...

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Autores principales: Wasserman, Meredith, Mulvihill, Erin M., Ganan-Soto, Angela, Uysal, Serife, Quintos, Jose Bernardo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5468774/
https://www.ncbi.nlm.nih.gov/pubmed/28638668
http://dx.doi.org/10.1155/2017/4271978
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author Wasserman, Meredith
Mulvihill, Erin M.
Ganan-Soto, Angela
Uysal, Serife
Quintos, Jose Bernardo
author_facet Wasserman, Meredith
Mulvihill, Erin M.
Ganan-Soto, Angela
Uysal, Serife
Quintos, Jose Bernardo
author_sort Wasserman, Meredith
collection PubMed
description Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency results in excess androgen production which can lead to early epiphyseal fusion and short stature. Prader-Willi syndrome (PWS) is a genetic disorder resulting from a defect on chromosome 15 due to paternal deletion, maternal uniparental disomy, or imprinting defect. Ninety percent of patients with PWS have short stature. In this article we report a patient with simple-virilizing CAH and PWS who was overtreated with glucocorticoids for CAH and not supplemented with growth hormone for PWS, resulting in a significantly short adult height.
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spelling pubmed-54687742017-06-21 Severe Short Stature in an Adolescent Male with Prader-Willi Syndrome and Congenital Adrenal Hyperplasia: A Therapeutic Conundrum Wasserman, Meredith Mulvihill, Erin M. Ganan-Soto, Angela Uysal, Serife Quintos, Jose Bernardo Case Rep Endocrinol Case Report Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency results in excess androgen production which can lead to early epiphyseal fusion and short stature. Prader-Willi syndrome (PWS) is a genetic disorder resulting from a defect on chromosome 15 due to paternal deletion, maternal uniparental disomy, or imprinting defect. Ninety percent of patients with PWS have short stature. In this article we report a patient with simple-virilizing CAH and PWS who was overtreated with glucocorticoids for CAH and not supplemented with growth hormone for PWS, resulting in a significantly short adult height. Hindawi 2017 2017-05-30 /pmc/articles/PMC5468774/ /pubmed/28638668 http://dx.doi.org/10.1155/2017/4271978 Text en Copyright © 2017 Meredith Wasserman et al. https://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Wasserman, Meredith
Mulvihill, Erin M.
Ganan-Soto, Angela
Uysal, Serife
Quintos, Jose Bernardo
Severe Short Stature in an Adolescent Male with Prader-Willi Syndrome and Congenital Adrenal Hyperplasia: A Therapeutic Conundrum
title Severe Short Stature in an Adolescent Male with Prader-Willi Syndrome and Congenital Adrenal Hyperplasia: A Therapeutic Conundrum
title_full Severe Short Stature in an Adolescent Male with Prader-Willi Syndrome and Congenital Adrenal Hyperplasia: A Therapeutic Conundrum
title_fullStr Severe Short Stature in an Adolescent Male with Prader-Willi Syndrome and Congenital Adrenal Hyperplasia: A Therapeutic Conundrum
title_full_unstemmed Severe Short Stature in an Adolescent Male with Prader-Willi Syndrome and Congenital Adrenal Hyperplasia: A Therapeutic Conundrum
title_short Severe Short Stature in an Adolescent Male with Prader-Willi Syndrome and Congenital Adrenal Hyperplasia: A Therapeutic Conundrum
title_sort severe short stature in an adolescent male with prader-willi syndrome and congenital adrenal hyperplasia: a therapeutic conundrum
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5468774/
https://www.ncbi.nlm.nih.gov/pubmed/28638668
http://dx.doi.org/10.1155/2017/4271978
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