Prader-Willi syndrome: an update on obesity and endocrine problems
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초록
Prader-Willi syndrome (PWS) is a rare complex genetic disorder that results from a lack of expression of the paternally inherited chromosome 15q11-q13. PWS is characterized by hypotonia and feeding difficulty in early infancy and development of morbid obesity aggravated by uncontrolled hyperphagia after childhood and adolescent. Dysmorphic facial features, delayed motor and language development, various degrees of cognitive impairment, and behavioral problems are common in PWS. Without early, intensive nutritional therapy along with behavioral modification, PWS patients develop severe obesity associated with type 2 diabetes, obstructive sleep apnea, right-side heart failure, and other obesity-related metabolic complications. Hypothalamic dysfunction in PWS can lead to several endocrine disorders, including short stature with growth hormone deficiency, hypothyroidism, central adrenal insufficiency, and hypogonadism. In this review, we discuss the natural history of PWS and the mechanisms of hyperphagia and obesity. We also provide an update on obesity treatments and recommendations for screening and monitoring of various endocrine problems that can occur in PWS.
Abstract
Prader-Willi syndrome (PWS) is a rare complex genetic disorder that results from a lack of expression of the paternally inherited chromosome 15q11-q13. PWS is characterized by hypotonia and feeding difficulty in early infancy and development of morbid obesity aggravated by uncontrolled hyperphagia after childhood and adolescent. Dysmorphic facial features, delayed motor and language development, various degrees of cognitive impairment, and behavioral problems are common in PWS. Without early, intensive nutritional therapy along with behavioral modification, PWS patients develop severe obesity associated with type 2 diabetes, obstructive sleep apnea, right-side heart failure, and other obesity-related metabolic complications. Hypothalamic dysfunction in PWS can lead to several endocrine disorders, including short stature with growth hormone deficiency, hypothyroidism, central adrenal insufficiency, and hypogonadism. In this review, we discuss the natural history of PWS and the mechanisms of hyperphagia and obesity. We also provide an update on obesity treatments and recommendations for screening and monitoring of various endocrine problems that can occur in PWS.
참고문헌 (96)
- Cassidy SB, "Prader-Willi syndrome", Genet Med, 14, pp.10~26 (2012)
- 전종근, "Genetics of Prader-Willi syndrome and Prader-Will-Like syndrome", Annals of Pediatric Endocrinology & Metabolism, 21(3), pp.126~135 (2016), 대한소아내분비학회
- Butler MG, "Prader-Willi syndrome-clinical genetics, diagnosis and treatment approaches : an update", Curr Pediatr Rev, 15, pp.207~244 (2019)
- Irizarry KA, "Prader Willi syndrome : genetics, metabolomics, hormonal function, and new approaches to therapy", Adv Pediatr, 63, pp.47~77 (2016)
- Rocha CF, "Prader-Willi-like phenotypes : a systematic review of their chromosomal abnormalities", Genet Mol Res, 13, pp.2290~2298 (2014)
- Angulo MA, "Prader-Willi syndrome : a review of clinical, genetic, and endocrine findings", J Endocrinol Invest, 38, pp.1249~1263 (2015)
- Driscoll DJ, "GeneReviews®" (2021), University of Washington
- Bar C, "Early diagnosis and care is achieved but should be improved in infants with Prader-Willi syndrome", Orphanet J Rare Dis, 12, pp.118~ (2017)
- Harris RM, "Prader Willi syndrome : endocrine updates and new medical therapies", Curr Opin Endocrinol Diabetes Obes, 27, pp.56~62 (2020)
- Heksch R, "Review of Prader-Willi syndrome : the endocrine approach", Transl Pediatr, 6, pp.274~285 (2017)
- Miller JL, "Nutritional phases in Prader-Willi syndrome", Am J Med Genet A, 155A, pp.1040~1049 (2011)
- Gross N, "Prader-Willi syndrome can be diagnosed prenatally", Am J Med Genet A, 167A, pp.80~85 (2015)
- Lee J, "Disease-specific growth charts for Korean infants with Prader-Willi syndrome", Am J Med Genet A, 167A, pp.86~94 (2015)
- Rosenbloom ST, "Development and implementation of electronic growth charts for infants with Prader-Willi syndrome", Am J Med Genet A, 158A, pp.2743~2749 (2012)
- Goldstone AP, "Recommendations for the diagnosis and management of Prader-Willi syndrome", J Clin Endocrinol Metab, 93, pp.4183~4197 (2008)
- Cassidy SB, "Prader-Willi syndrome", Eur J Hum Genet, 17, pp.3~13 (2009)
- McCandless SE, "Clinical report-health supervision for children with Prader-Willi syndrome", Pediatrics, 127, pp.195~204 (2011)
- Whittington JE, "Population prevalence and estimated birth incidence and mortality rate for people with Prader-Willi syndrome in one UK Health Region", J Med Genet, 38, pp.792~798 (2001)
- Butler MG, "Causes of death in Prader-Willi syndrome : Prader-Willi Syndrome Association(USA)40-year mortality survey", Genet Med, 19, pp.635~642 (2017)
- Pacoricona Alfaro DL, "Causes of death in Prader-Willi syndrome : lessons from 11 years' experience of a national reference center", Orphanet J Rare Dis, 14, pp.238~ (2019)
- Lionti T, "Prader-Willi syndrome in Victoria : mortality and causes of death", J Paediatr Child Health, 48, pp.506~511 (2012)
- Butler MG, "Energy expenditure and physical activity in Prader-Willi syndrome : comparison with obese subjects", Am J Med Genet A, 143A, pp.449~459 (2007)
- Burman P, "Endocrine dysfunction in Prader-Willi syndrome : a review with special reference to GH", Endocr Rev, 22, pp.787~799 (2001)
- Khan MJ, "Mechanisms of obesity in Prader-Willi syndrome", Pediatr Obes, 13, pp.3~13 (2018)
- Holsen LM, "Importance of reward and prefrontal circuitry in hunger and satiety : Prader-Willi syndrome vs simple obesity", Int J Obes(Lond), 36, pp.638~647 (2012)
- Blanco-Hinojo L, "Lack of response to disgusting food in the hypothalamus and related structures in Prader Willi syndrome", Neuroimage Clin, 21, pp.101662~ (2019)
- Dimitropoulos A, "Food-related neural circuitry in Prader-Willi syndrome : response to high-versus lowcalorie foods", J Autism Dev Disord, 38, pp.1642~1653 (2008)
- DelParigi A, "High circulating ghrelin : a potential cause for hyperphagia and obesity in prader-willi syndrome", J Clin Endocrinol Metab, 87, pp.5461~5464 (2002)
- Haqq AM, "Serum ghrelin levels are inversely correlated with body mass index, age, and insulin concentrations in normal children and are markedly increased in Prader-Willi syndrome", J Clin Endocrinol Metab, 88, pp.174~178 (2003)
- Kweh FA, "Hyperghrelinemia in Prader-Willi syndrome begins in early infancy long before the onset of hyperphagia", Am J Med Genet A, 167A, pp.69~79 (2015)
- Beauloye V, "High unacylated ghrelin levels support the concept of anorexia in infants with prader-willi syndrome", Orphanet J Rare Dis, 11, pp.56~ (2016)
- Lawson EA, "The role of oxytocin in regulation of appetitive behaviour, body weight and glucose homeostasis", J Neuroendocrinol, 32, pp.e12805~ (2020)
- Swaab DF, "Alterations in the hypothalamic paraventricular nucleus and its oxytocin neurons(putative satiety cells)in Prader-Willi syndrome : a study of five cases", J Clin Endocrinol Metab, 80, pp.573~579 (1995)
- Martin A, "Cerebrospinal fluid levels of oxytocin in Prader-Willi syndrome : a preliminary report", Biol Psychiatry, 44, pp.1349~1352 (1998)
- Johnson L, "Elevated plasma oxytocin levels in children with Prader-Willi syndrome compared with healthy unrelated siblings", Am J Med Genet A, 170, pp.594~601 (2016)
- Xue Q, "Ghrelin through GHSR1a and OX1R heterodimers reveals a Galphas-cAMP-cAMP response element binding protein signaling pathway in vitro", Front Mol Neurosci, 11, pp.245~ (2018)
- Wallace Fitzsimons SE, "A ghrelin receptor and oxytocin receptor heterocomplex impairs oxytocin mediated signalling", Neuropharmacology, 152, pp.90~101 (2019)
- Kuppens RJ, "Promising effects of oxytocin on social and food-related behaviour in young children with Prader-Willi syndrome : a randomized, double-blind, controlled crossover trial", Clin Endocrinol(Oxf), 85, pp.979~987 (2016)
- Miller JL, "Oxytocin treatment in children with Prader-Willi syndrome : a double-blind, placebo-controlled, crossover study", Am J Med Genet A, 173, pp.1243~1250 (2017)
- Allas S, "AZP-531, an unacylated ghrelin analog, improves food-related behavior in patients with Prader-Willi syndrome : a randomized placebo-controlled trial", PLoS One, 13, pp.e0190849~ (2018)
- Butler MG, "Plasma peptide YY and ghrelin levels in infants and children with Prader-Willi syndrome", J Pediatr Endocrinol Metab, 17, pp.1177~1184 (2004)
- Hoybye C, "Serum adiponectin levels in adults with Prader-Willi syndrome are independent of anthropometrical parameters and do not change with GH treatment", Eur J Endocrinol, 151, pp.457~461 (2004)
- Butler MG, "Plasma obestatin and ghrelin levels in subjects with Prader-Willi syndrome", Am J Med Genet A, 143A, pp.415~421 (2007)
- Haqq AM, "Altered distribution of adiponectin isoforms in children with Prader-Willi syndrome(PWS) : association with insulin sensitivity and circulating satiety peptide hormones", Clin Endocrinol(Oxf), 67, pp.944~951 (2007)
- Park WH, "Obestatin is not elevated or correlated with insulin in children with Prader-Willi syndrome", J Clin Endocrinol Metab, 92, pp.229~234 (2007)
- Haqq AM, "The metabolic phenotype of Prader-Willi syndrome(PWS)in childhood : heightened insulin sensitivity relative to body mass index", J Clin Endocrinol Metab, 96, pp.E225~E232 (2011)
- Goldstone AP, "Appetite hormones and the transition to hyperphagia in children with Prader-Willi syndrome", Int J Obes(Lond), 36, pp.1564~1570 (2012)
- Orsso CE, "Obestatin and adropin in Prader-Willi syndrome and nonsyndromic obesity : associations with weight, BMI-z, and HOMA-IR", Pediatr Obes, 14, pp.e12493~ (2019)
- Butler MG, "Comparison of leptin protein levels in Prader-Willi syndrome and control individuals", Am J Med Genet, 75, pp.7~12 (1998)
- Bochukova EG, "Transcriptomics of the Prader-Willi syndrome hypothalamus", Handb Clin Neurol, 181, pp.369~379 (2021)
- Bochukova EG, "A transcriptomic signature of the hypothalamic response to fasting and BDNF deficiency in Prader-Willi syndrome", Cell Rep, 22, pp.3401~3408 (2018)
- Gray J, "Hyperphagia, severe obesity, impaired cognitive function, and hyperactivity associated with functional loss of one copy of the brain-derived neurotrophic factor(BDNF)gene", Diabetes, 55, pp.3366~3371 (2006)
- Han JC, "Lower brain-derived neurotrophic factor in patients with prader-willi syndrome compared to obese and lean control subjects", J Clin Endocrinol Metab, 95, pp.3532~3536 (2010)
- Lloret-Linares C, "Comparison of body composition, basal metabolic rate and metabolic outcomes of adults with Prader Willi syndrome or lesional hypothalamic disease, with primary obesity", Int J Obes(Lond), 37, pp.1198~1203 (2013)
- Lacroix D, "Metabolic and adipose tissue signatures in adults with Prader-Willi syndrome : a model of extreme adiposity", J Clin Endocrinol Metab, 100, pp.850~859 (2015)
- Yazdi PG, "Differential gene expression reveals mitochondrial dysfunction in an imprinting center deletion mouse model of Prader-Willi syndrome", Clin Transl Sci, 6, pp.347~355 (2013)
- Butler MG, "Preliminary observations of mitochondrial dysfunction in Prader-Willi syndrome", Am J Med Genet A, 176, pp.2587~2594 (2018)
- Schmidt H, "Successful early dietary intervention avoids obesity in patients with Prader-Willi syndrome : a ten-year follow-up", J Pediatr Endocrinol Metab, 21, pp.651~655 (2008)
- Miller JL, "Approach to the child with prader-willi syndrome", J Clin Endocrinol Metab, 97, pp.3837~3844 (2012)
- Crino A, "Obesity management in Prader-Willi syndrome : current perspectives", Diabetes Metab Syndr Obes, 11, pp.579~593 (2018)
- Griggs JL, "Prader-Willi syndrome : From genetics to behaviour, with special focus on appetite treatments", Neurosci Biobehav Rev, 59, pp.155~172 (2015)
- Sipila I, "Long-term effects of growth hormone therapy on patients with Prader-Willi syndrome", Acta Paediatr, 99, pp.1712~1718 (2010)
- Scheimann AO, "Critical analysis of bariatric procedures in Prader-Willi syndrome", J Pediatr Gastroenterol Nutr, 46, pp.80~83 (2008)
- Salehi P, "Effects of exenatide on weight and appetite in overweight adolescents and young adults with Prader-Willi syndrome", Pediatr Obes, 12, pp.221~228 (2017)
- Yoo-Mi Kim, "Successful rapid weight reduction and the use of liraglutide for morbid obesity in adolescent Prader-Willi syndrome", Annals of Pediatric Endocrinology & Metabolism, 25(1), pp.52~56 (2020), 대한소아내분비학회
- Senda M, "The glucagon-like peptide-1 analog liraglutide suppresses ghrelin and controls diabetes in a patient with Prader-Willi syndrome", Endocr J, 59, pp.889~894 (2012)
- Fintini D, "Use of GLP-1 receptor agonists in Prader-Willi Syndrome : report of six cases", Diabetes Care, 37, pp.e76~e77 (2014)
- Kimonis V, "A randomized pilot efficacy and safety trial of diazoxide choline controlled-release in patients with Prader-Willi syndrome", PLoS One, 14, pp.e0221615~ (2019)
- Einfeld SL, "A double-blind randomized controlled trial of oxytocin nasal spray in Prader Willi syndrome", Am J Med Genet A, 164A, pp.2232~2239 (2014)
- Hollander E, "Intranasal oxytocin versus placebo for hyperphagia and repetitive behaviors in children with Prader-Willi Syndrome : a randomized controlled pilot trial", J Psychiatr Res, 137, pp.643~651 (2021)
- Tauber M, "The use of oxytocin to improve feeding and social skills in infants with Prader-Willi syndrome", Pediatrics, 139, pp.e20162976~ (2017)
- Dykens EM, "Intranasal carbetocin reduces hyperphagia in individuals with Prader-Willi syndrome", JCI Insight, 3, pp.e98333~ (2018)
- Bridges N, "What is the value of growth hormone therapy in Prader Willi syndrome", Arch Dis Child, 99, pp.166~170 (2014)
- Cohen M, "Growth hormone secretion decreases with age in paediatric Prader-Willi syndrome", Clin Endocrinol(Oxf), 83, pp.212~215 (2015)
- Carrel AL, "Long-term growth hormone therapy changes the natural history of body composition and motor function in children with Prader-Willi syndrome", J Clin Endocrinol Metab, 95, pp.1131~1136 (2010)
- Myers SE, "Two years of growth hormone therapy in young children with Prader-Willi syndrome : physical and neurodevelopmental benefits", Am J Med Genet A, 143A, pp.443~448 (2007)
- Donze SH, "Improved mental and motor development during 3 years of GH treatment in very young children with Prader-Willi syndrome", J Clin Endocrinol Metab, 103, pp.3714~3719 (2018)
- Grugni G, "Diagnosis and treatment of GH deficiency in Prader-Willi syndrome", Best Pract Res Clin Endocrinol Metab, 30, pp.785~794 (2016)
- Koizumi M, "Visceral adipose tissue increases shortly after the cessation of GH therapy in adults with Prader-Willi syndrome", Endocr J, 65, pp.1127~1137 (2018)
- Hoybye C, "Cognitive, emotional, physical and social effects of growth hormone treatment in adults with Prader-Willi syndrome", J Intellect Disabil Res, 49(Pt 4), pp.245~252 (2005)
- Damen L, "Three years of growth hormone treatment in young adults with Prader-Willi syndrome : sustained positive effects on body composition", Orphanet J Rare Dis, 15, pp.163~ (2020)
- Grugni G, "Impairment of GH responsiveness to combined GH-releasing hormone and arginine administration in adult patients with Prader-Willi syndrome", Clin Endocrinol(Oxf), 65, pp.492~499 (2006)
- Butler MG, "Thyroid function studies in Prader-Willi syndrome", Am J Med Genet A, 143A, pp.488~492 (2007)
- Diene G, "Endocrine disorders in children with Prader-Willi syndrome--data from 142 children of the French database", Horm Res Paediatr, 74, pp.121~128 (2010)
- Iughetti L, "Thyroid function in patients with Prader-Willi syndrome : an Italian multicenter study of 339patients", J Pediatr Endocrinol Metab, 32, pp.159~165 (2019)
- Vaiani E, "Thyroid axis dysfunction in patients with Prader-Willi syndrome during the first 2 years of life", Clin Endocrinol(Oxf), 73, pp.546~550 (2010)
- de Lind van Wijngaarden RF, "High prevalence of central adrenal insufficiency in patients with Prader-Willi syndrome", J Clin Endocrinol Metab, 93, pp.1649~1654 (2008)
- Grugni G, "Central adrenal insufficiency in young adults with Prader-Willi syndrome", Clin Endocrinol(Oxf), 79, pp.371~378 (2013)
- Farholt S, "Normal cortisol response to high-dose synacthen and insulin tolerance test in children and adults with Prader-Willi syndrome", J Clin Endocrinol Metab, 96, pp.E173~E180 (2011)
- Corrias A, "Assessment of central adrenal insufficiency in children and adolescents with Prader-Willi syndrome", Clin Endocrinol(Oxf), 76, pp.843~850 (2012)
- Oto Y, "Delayed peak response of cortisol to insulin tolerance test in patients with Prader-Willi syndrome", Am J Med Genet A, 176, pp.1369~1374 (2018)
- Muscogiuri G, "Prader-Willi syndrome : an uptodate on endocrine and metabolic complications", Rev Endocr Metab Disord, 20, pp.239~250 (2019)
- Tauber M, "Endocrine disorders in Prader-Willi syndrome : a model to understand and treat hypothalamic dysfunction", Lancet Diabetes Endocrinol, 9, pp.235~246 (2021)
- Crino A, "Hypogonadism and pubertal development in Prader-Willi syndrome", Eur J Pediatr, 162, pp.327~333 (2003)
- Eldar-Geva T, "Primary ovarian dysfunction contributes to the hypogonadism in women with Prader-Willi Syndrome", Horm Res, 72, pp.153~159 (2009)
- Greco D, "Prader-Willi syndrome with angelman syndrome in the offspring", Medicina(Kaunas), 57, pp.460~ (2021)
