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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| Format: | Article |
| Language: | English |
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Wiley
2017-01-01
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| Series: | Case Reports in Endocrinology |
| Online Access: | http://dx.doi.org/10.1155/2017/4271978 |
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| author | Meredith Wasserman Erin M. Mulvihill Angela Ganan-Soto Serife Uysal Jose Bernardo Quintos |
| author_facet | Meredith Wasserman Erin M. Mulvihill Angela Ganan-Soto Serife Uysal Jose Bernardo Quintos |
| author_sort | Meredith Wasserman |
| collection | DOAJ |
| 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. |
| format | Article |
| id | doaj-art-ec66a9e6efdc4e89b4c7b3f3089209d8 |
| institution | Kabale University |
| issn | 2090-6501 2090-651X |
| language | English |
| publishDate | 2017-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Endocrinology |
| spelling | doaj-art-ec66a9e6efdc4e89b4c7b3f3089209d82025-02-03T05:44:47ZengWileyCase Reports in Endocrinology2090-65012090-651X2017-01-01201710.1155/2017/42719784271978Severe Short Stature in an Adolescent Male with Prader-Willi Syndrome and Congenital Adrenal Hyperplasia: A Therapeutic ConundrumMeredith Wasserman0Erin M. Mulvihill1Angela Ganan-Soto2Serife Uysal3Jose Bernardo Quintos4The Warren Alpert Medical School, Brown University, Providence, RI, USACollege of Human Ecology, Cornell University, Ithaca, NY, USAAlexian Brothers Women and Children’s Hospital and Amita Health Medical Group, Hoffman Estates, IL, USADivision of Pediatric Endocrinology, Rhode Island Hospital and Hasbro Children’s Hospital, The Warren Alpert Medical School, Brown University, Providence, RI, USADivision of Pediatric Endocrinology, Rhode Island Hospital and Hasbro Children’s Hospital, The Warren Alpert Medical School, Brown University, Providence, RI, USACongenital 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.http://dx.doi.org/10.1155/2017/4271978 |
| spellingShingle | Meredith Wasserman Erin M. Mulvihill Angela Ganan-Soto Serife Uysal Jose Bernardo Quintos Severe Short Stature in an Adolescent Male with Prader-Willi Syndrome and Congenital Adrenal Hyperplasia: A Therapeutic Conundrum Case Reports in Endocrinology |
| 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 |
| url | http://dx.doi.org/10.1155/2017/4271978 |
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