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Follicle stimulating and leutinizing hormones, estradiol and testosterone in Prader–Willi syndrome

Follicle stimulating and leutinizing hormones, estradiol and testosterone in Prader–Willi syndrome <h5>To the Editor:</h5> Prader–Willi syndrome (PWS) is a classic genomic imprinting disorder in which affected individuals display hypotonia, failure to thrive, feeding difficulties, developmental delays and hypogenitalism/hypogonadism in infancy. At approximately 2–3 years of age, hyperphagia, central obesity, short stature, small hands and feet, behavioral problems and characteristic facial features are present [Cassidy, 1984 ; Butler, 1990 ; Bittel and Butler, 2005 ; Butler et al., 2006 ]. The genetic causes are generally due to a paternal deletion of the chromosome 15q11–q13 region (about 70%), maternal disomy 15 (UPD) (about 25%), or imprinting defects or translocations involving chromosome 15 (about 5%) [Bittel and Butler, 2005 ]. The characteristic findings of hyperphagia, central obesity, short stature, cryptorchidism and hypogonadism are consistent with endocrine and/or metabolic abnormalities involving the hypothalamic–pituitary axis. While some studies have examined specific hormonal levels in Prader–Willi syndrome [Nagai et al., 1998 ; Burman et al., 2001 ; Eiholzer and Lee, 2006 ; Eiholzer et al., 2006 ; Butler et al., 2007], a comprehensive examination of follicle stimulating hormone (FSH), leutinizing hormone (LH), estradiol and testosterone levels is lacking in individuals with Prader–Willi syndrome with known genetic subtypes. Thus, we report FSH, LH, estradiol and testosterone http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Medical Genetics Part A Wiley

Follicle stimulating and leutinizing hormones, estradiol and testosterone in Prader–Willi syndrome

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References (27)

Publisher
Wiley
Copyright
Copyright © 2008 Wiley Subscription Services, Inc., A Wiley Company
ISSN
1552-4825
eISSN
1552-4833
DOI
10.1002/ajmg.a.32194
pmid
18241068
Publisher site
See Article on Publisher Site

Abstract

<h5>To the Editor:</h5> Prader–Willi syndrome (PWS) is a classic genomic imprinting disorder in which affected individuals display hypotonia, failure to thrive, feeding difficulties, developmental delays and hypogenitalism/hypogonadism in infancy. At approximately 2–3 years of age, hyperphagia, central obesity, short stature, small hands and feet, behavioral problems and characteristic facial features are present [Cassidy, 1984 ; Butler, 1990 ; Bittel and Butler, 2005 ; Butler et al., 2006 ]. The genetic causes are generally due to a paternal deletion of the chromosome 15q11–q13 region (about 70%), maternal disomy 15 (UPD) (about 25%), or imprinting defects or translocations involving chromosome 15 (about 5%) [Bittel and Butler, 2005 ]. The characteristic findings of hyperphagia, central obesity, short stature, cryptorchidism and hypogonadism are consistent with endocrine and/or metabolic abnormalities involving the hypothalamic–pituitary axis. While some studies have examined specific hormonal levels in Prader–Willi syndrome [Nagai et al., 1998 ; Burman et al., 2001 ; Eiholzer and Lee, 2006 ; Eiholzer et al., 2006 ; Butler et al., 2007], a comprehensive examination of follicle stimulating hormone (FSH), leutinizing hormone (LH), estradiol and testosterone levels is lacking in individuals with Prader–Willi syndrome with known genetic subtypes. Thus, we report FSH, LH, estradiol and testosterone

Journal

American Journal of Medical Genetics Part AWiley

Published: Jan 1, 2008

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