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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Bibliographic Details
Published inCase reports in endocrinology Vol. 2017; no. 2017; pp. 1 - 4
Main Authors Uysal, Serife, Ganan-Soto, Angela, Mulvihill, Erin M., Wasserman, Meredith, Quintos, Jose Bernardo
Format Journal Article
LanguageEnglish
Published Cairo, Egypt Hindawi Publishing Corporation 01.01.2017
Hindawi
John Wiley & Sons, Inc
Hindawi Limited
Subjects
Adrenogenital syndrome
Care and treatment
Case Report
Case studies
Complications and side effects
Development and progression
Growth disorders
Prader-Willi syndrome
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Summary: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.
Bibliography:Academic Editor: Wayne V. Moore
ISSN:2090-6501
2090-651X
DOI:10.1155/2017/4271978