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Prader-Willi syndrome(PWS)

MedGen UID:
46057
Concept ID:
C0032897
Congenital Abnormality
Synonyms: Obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet; Prader Labhart Willi syndrome; PWS
Modes of inheritance:
Sporadic
MedGen UID:
64410
Concept ID:
C0205422
Temporal Concept
not inherited
MedGen UID:
832438
Concept ID:
CN227390
Intellectual Product
Describes a disorder that is not inherited.
SNOMED CT: Prader-Willi syndrome (89392001)
 
Genes (locations): HERC2 (15q13.1); IPW (15q11.2); MAGEL2 (15q11.2); MKRN3 (15q11.2); MKRN3-AS1 (15q11-q13); NDN (15q11.2); NPAP1 (15q11.2); PWAR1 (15q11.2); PWRN1 (15q11.2); SNORD115-1 (15q11.2); SNORD116-1 (15q11.2); SNRPN (15q11.2)
OMIM®: 176270
Orphanet: ORPHA739

Disease characteristics

Excerpted from the GeneReview: Prader-Willi Syndrome
Prader-Willi (PWS) syndrome is characterized by severe hypotonia and feeding difficulties in early infancy, followed in later infancy or early childhood by excessive eating and gradual development of morbid obesity (unless eating is externally controlled). Motor milestones and language development are delayed. All individuals have some degree of cognitive impairment. A distinctive behavioral phenotype (with temper tantrums, stubbornness, manipulative behavior, and obsessive-compulsive characteristics) is common. Hypogonadism is present in both males and females and manifests as genital hypoplasia, incomplete pubertal development, and, in most, infertility. Short stature is common; characteristic facial features, strabismus, and scoliosis are often present, and non-insulin-dependent diabetes mellitus often occurs in obese individuals. [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Characteristics  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Daniel J Driscoll  |  Jennifer L Miller  |  Stuart Schwartz, et. al.   view full author information

Additional descriptions

From OMIM
Prader-Willi syndrome is characterized by diminished fetal activity, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet. It can be considered to be an autosomal dominant disorder and is caused by deletion or disruption of a gene or several genes on the proximal long arm of the paternal chromosome 15 or maternal uniparental disomy 15, because the gene(s) on the maternal chromosome(s) 15 are virtually inactive through imprinting. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome (105830) region. See also the chromosome 15q11-q13 duplication syndrome (608636), which shows overlapping clinical features.  http://www.omim.org/entry/176270
From GHR
Prader-Willi syndrome is a complex genetic condition that affects many parts of the body. In infancy, this condition is characterized by weak muscle tone (hypotonia), feeding difficulties, poor growth, and delayed development. Beginning in childhood, affected individuals develop an insatiable appetite, which leads to chronic overeating (hyperphagia) and obesity. Some people with Prader-Willi syndrome, particularly those with obesity, also develop type 2 diabetes mellitus (the most common form of diabetes). People with Prader-Willi syndrome typically have mild to moderate intellectual impairment and learning disabilities. Behavioral problems are common, including temper outbursts, stubbornness, and compulsive behavior such as picking at the skin. Sleep abnormalities can also occur. Additional features of this condition include distinctive facial features such as a narrow forehead, almond-shaped eyes, and a triangular mouth; short stature; and small hands and feet. Some people with Prader-Willi syndrome have unusually fair skin and light-colored hair. Both affected males and affected females have underdeveloped genitals. Puberty is delayed or incomplete, and most affected individuals are unable to have children (infertile).  http://ghr.nlm.nih.gov/condition/prader-willi-syndrome

Clinical features

Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
Delayed puberty
MedGen UID:
373889
Concept ID:
C1838105
Finding
Failure to thrive in infancy
MedGen UID:
358083
Concept ID:
C1867873
Finding
Obesity
MedGen UID:
368429
Concept ID:
C1963185
Finding
Abdominal obesity
MedGen UID:
776831
Concept ID:
CN185447
Finding
Excessive fat around the stomach and abdomen.
Primary amenorrhea
MedGen UID:
115918
Concept ID:
C0232939
Disease or Syndrome
Abnormally late or absent menarche in a female with normal secondary sexual characteristics.(NICHD)
Hypoplastic labia minora
MedGen UID:
376558
Concept ID:
C1849295
Finding
Cryptorchidism
MedGen UID:
504309
Concept ID:
CN000029
Finding
Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis.
Hypogonadotrophic hypogonadism
MedGen UID:
504316
Concept ID:
CN000044
Finding
Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH).
Scrotal hypoplasia
MedGen UID:
500880
Concept ID:
CN000046
Finding
Micropenis
MedGen UID:
504321
Concept ID:
CN000054
Finding
Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm.
Clitoral hypoplasia
MedGen UID:
500882
Concept ID:
CN000060
Finding
Developmental hypoplasia of the clitoris.
Infertility
MedGen UID:
504598
Concept ID:
CN000737
Finding
Oligomenorrhea
MedGen UID:
504640
Concept ID:
CN000822
Finding
Infrequent menses (less than 6 per year or more than 35 days between cycles).
Narrow forehead
MedGen UID:
326408
Concept ID:
C1839127
Finding
Dolichocephaly
MedGen UID:
344363
Concept ID:
C1854767
Finding
Downturned corners of mouth
MedGen UID:
356471
Concept ID:
C1866195
Finding
Carious teeth
MedGen UID:
401327
Concept ID:
C1867882
Finding
Thin upper lip vermilion
MedGen UID:
507078
Concept ID:
CN000212
Finding
Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective).
Narrow nasal bridge
MedGen UID:
504444
Concept ID:
CN000417
Finding
Decreased width of the bony bridge of the nose.
Upslanted palpebral fissure
MedGen UID:
504509
Concept ID:
CN000546
Finding
The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age.
Almond-shaped palpebral fissure
MedGen UID:
428753
Concept ID:
CN006914
Finding
A shape created by an acute downward arching of the upper eyelid and upward arching of the lower eyelid, toward the medial canthus, which gives the outline of the palpebral fissures the configuration of an almond. Thus, the maximum distance between the fissures is offset from, and medial to, the center point.
Iris hypopigmentation
MedGen UID:
473113
Concept ID:
C0423317
Finding
Hypermetropia
MedGen UID:
504484
Concept ID:
CN000506
Finding
An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry.
Myopia
MedGen UID:
504487
Concept ID:
CN000511
Finding
An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry.
Esotropia
MedGen UID:
504499
Concept ID:
CN000530
Finding
A form of strabismus with one or both eyes turned inward ('crossed').
Polyphagia
MedGen UID:
534545
Concept ID:
C0232461
Finding
Impaired pain sensation
MedGen UID:
373348
Concept ID:
C1837522
Finding
Intellectual disability
MedGen UID:
334384
Concept ID:
C1843367
Finding
Poor gross motor coordination
MedGen UID:
357363
Concept ID:
C1867863
Finding
Poor fine motor coordination
MedGen UID:
356863
Concept ID:
C1867864
Finding
Seizures
MedGen UID:
409523
Concept ID:
C1959629
Finding
Psychosis
MedGen UID:
504566
Concept ID:
CN000666
Finding
A condition characterized by changes of personality and thought patterns often accompanied by hallucinations and delusional beliefs.
Autism
MedGen UID:
504569
Concept ID:
CN000674
Finding
Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV).
Delayed speech and language development
MedGen UID:
504583
Concept ID:
CN000706
Finding
A degree of language development that is significantly below the norm for a child of a specified age.
Growth hormone deficiency
MedGen UID:
428231
Concept ID:
CN000771
Finding
Insufficient production of growth hormone, which is produced by the anterior pituitary gland. Growth hormone is a major participant in control of growth and metabolism.
Global developmental delay
MedGen UID:
504774
Concept ID:
CN001157
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Motor delay
MedGen UID:
504779
Concept ID:
CN001164
Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Specific learning disability
MedGen UID:
504802
Concept ID:
CN001216
Finding
Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence.
Ventriculomegaly
MedGen UID:
505112
Concept ID:
CN001919
Finding
An increase in size of the ventricular system of the brain.
Attention deficit hyperactivity disorder
MedGen UID:
506017
Concept ID:
CN006126
Finding
Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient.
Sleep apnea
MedGen UID:
506376
Concept ID:
CN009366
Finding
An intermittent cessation of airflow at the mouth and nose during sleep. Apneas of at least 10 seconds are considered important, but persons with sleep apnea may have apneas of 20 seconds to up to 2 or 3 minutes. Patients may have up to 15 events per hour of sleep.
Hyperinsulinemia
MedGen UID:
43779
Concept ID:
C0020459
Disease or Syndrome
A syndrome with excessively high INSULIN levels in the BLOOD. It may cause HYPOGLYCEMIA. Etiology of hyperinsulinism varies, including hypersecretion of a beta cell tumor (INSULINOMA); autoantibodies against insulin (INSULIN ANTIBODIES); defective insulin receptor (INSULIN RESISTANCE); or overuse of exogenous insulin or HYPOGLYCEMIC AGENTS.
Precocious puberty
MedGen UID:
18752
Concept ID:
C0034013
Disease or Syndrome
Development of SEXUAL MATURATION in boys and girls at a chronological age that is 2.5 standard deviations below the mean age at onset of PUBERTY in the population. This early maturation of the hypothalamic-pituitary-gonadal axis results in sexual precocity, elevated serum levels of GONADOTROPINS and GONADAL STEROID HORMONES such as ESTRADIOL and TESTOSTERONE.
Primary amenorrhea
MedGen UID:
115918
Concept ID:
C0232939
Disease or Syndrome
Abnormally late or absent menarche in a female with normal secondary sexual characteristics.(NICHD)
Delayed puberty
MedGen UID:
373889
Concept ID:
C1838105
Finding
Adrenal insufficiency
MedGen UID:
368779
Concept ID:
C1963059
Finding
Hypogonadotrophic hypogonadism
MedGen UID:
504316
Concept ID:
CN000044
Finding
Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH).
Growth hormone deficiency
MedGen UID:
428231
Concept ID:
CN000771
Finding
Insufficient production of growth hormone, which is produced by the anterior pituitary gland. Growth hormone is a major participant in control of growth and metabolism.
Oligomenorrhea
MedGen UID:
504640
Concept ID:
CN000822
Finding
Infrequent menses (less than 6 per year or more than 35 days between cycles).
Type II diabetes mellitus
MedGen UID:
505874
Concept ID:
CN005268
Finding
A type of diabetes mellitus initially characterized by insulin resistance and hyperinsulinemia and subsequently by glucose interolerance and hyperglycemia.
Short foot
MedGen UID:
107903
Concept ID:
C0576226
Finding
Kyphosis
MedGen UID:
335104
Concept ID:
C1845112
Finding
Dolichocephaly
MedGen UID:
344363
Concept ID:
C1854767
Finding
Osteopenia
MedGen UID:
409692
Concept ID:
C1968854
Finding
Syndactyly
MedGen UID:
776571
Concept ID:
C2117411
Finding
Radial deviation of finger
MedGen UID:
473540
Concept ID:
C2178410
Finding
Osteoporosis
MedGen UID:
776590
Concept ID:
C2911643
Finding
Hip dysplasia
MedGen UID:
504822
Concept ID:
CN001267
Finding
The presence of developmental dysplasia of the hip.
Scoliosis
MedGen UID:
427922
Concept ID:
CN002409
Finding
The presence of an abnormal lateral curvature of the spine.
Short palm
MedGen UID:
425240
Concept ID:
CN003783
Finding
Short palm.
Clinodactyly
MedGen UID:
807884
Concept ID:
CN220788
Finding
An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe).
Decreased fetal movement
MedGen UID:
68618
Concept ID:
C0235659
Finding
Poor suck
MedGen UID:
324693
Concept ID:
C1837142
Finding
Hypopigmentation of hair
MedGen UID:
480031
Concept ID:
C3278401
Finding
Cutaneous photosensitivity
MedGen UID:
428240
Concept ID:
CN000929
Finding
An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin.
Hypopigmentation of the skin
MedGen UID:
446388
Concept ID:
CN000946
Finding
A reduction of skin color related to a decrease in melanin production and deposition.
Frontal upsweep of hair
MedGen UID:
808106
Concept ID:
CN002028
Finding
Upward and/or sideward growth of anterior hair.
Generalized hypopigmentation
MedGen UID:
425911
Concept ID:
CN006589
Finding
Nasal speech
MedGen UID:
504873
Concept ID:
CN001466
Finding
A type of speech characterized by the presence of an abnormally increased nasal airflow during speech, associated with incomplete or weak closure of the velum.
Hyperinsulinemia
MedGen UID:
43779
Concept ID:
C0020459
Disease or Syndrome
A syndrome with excessively high INSULIN levels in the BLOOD. It may cause HYPOGLYCEMIA. Etiology of hyperinsulinism varies, including hypersecretion of a beta cell tumor (INSULINOMA); autoantibodies against insulin (INSULIN ANTIBODIES); defective insulin receptor (INSULIN RESISTANCE); or overuse of exogenous insulin or HYPOGLYCEMIC AGENTS.
Temperature instability
MedGen UID:
329973
Concept ID:
C1820737
Finding
Type II diabetes mellitus
MedGen UID:
505874
Concept ID:
CN005268
Finding
A type of diabetes mellitus initially characterized by insulin resistance and hyperinsulinemia and subsequently by glucose interolerance and hyperglycemia.
Recurrent respiratory infections
MedGen UID:
400943
Concept ID:
C1866203
Finding
Hypoventilation
MedGen UID:
505358
Concept ID:
CN002525
Finding
A reduction in the amount of air transported into the pulmonary alveoli by breathing, leading to hypercapnia (increase in the partial pressure of carbon dioxide).
Sleep apnea
MedGen UID:
506376
Concept ID:
CN009366
Finding
An intermittent cessation of airflow at the mouth and nose during sleep. Apneas of at least 10 seconds are considered important, but persons with sleep apnea may have apneas of 20 seconds to up to 2 or 3 minutes. Patients may have up to 15 events per hour of sleep.
Recurrent respiratory infections
MedGen UID:
400943
Concept ID:
C1866203
Finding
Decreased muscle mass
MedGen UID:
324803
Concept ID:
C1837466
Finding
Generalized hypotonia
MedGen UID:
346841
Concept ID:
C1858120
Finding
Short foot
MedGen UID:
107903
Concept ID:
C0576226
Finding
Narrow palm
MedGen UID:
346628
Concept ID:
C1857632
Finding
Syndactyly
MedGen UID:
776571
Concept ID:
C2117411
Finding
Radial deviation of finger
MedGen UID:
473540
Concept ID:
C2178410
Finding
Short palm
MedGen UID:
425240
Concept ID:
CN003783
Finding
Short palm.
Clinodactyly
MedGen UID:
807884
Concept ID:
CN220788
Finding
An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe).

Professional guidelines

PubMed

Dondorp W, de Wert G, Bombard Y, Bianchi DW, Bergmann C, Borry P, Chitty LS, Fellmann F, Forzano F, Hall A, Henneman L, Howard HC, Lucassen A, Ormond K, Peterlin B, Radojkovic D, Rogowski W, Soller M, Tibben A, Tranebjærg L, van El CG, Cornel MC
Eur J Hum Genet 2015 Mar 18 doi: 10.1038/ejhg.2015.57. PMID: 25782669
McCandless SE; Committee on Genetics
Pediatrics 2011 Jan;127(1):195-204. Epub 2010 Dec 27 doi: 10.1542/peds.2010-2820. [Epub ahead of print] PMID: 21187304
August GP, Caprio S, Fennoy I, Freemark M, Kaufman FR, Lustig RH, Silverstein JH, Speiser PW, Styne DM, Montori VM; Endocrine Society
J Clin Endocrinol Metab 2008 Dec;93(12):4576-99. Epub 2008 Sep 9 doi: 10.1210/jc.2007-2458. [Epub ahead of print] PMID: 18782869
Shaffer LG, Agan N, Goldberg JD, Ledbetter DH, Longshore JW, Cassidy SB
Genet Med 2001 May-Jun;3(3):206-11. doi: 10.109700125817-200105000-00011. PMID: 11388763Free PMC Article

Recent clinical studies

Etiology

Rubin DA, Clark SJ, Ng J, Castner DM, Haqq AM, Judelson DA
Metabolism 2015 Mar;64(3):391-5. Epub 2014 Dec 2 doi: 10.1016/j.metabol.2014.11.011. [Epub ahead of print] PMID: 25524794
Butler MG, Lee J, Manzardo AM, Gold JA, Miller JL, Kimonis V, Driscoll DJ
Pediatrics 2015 Jan;135(1):e126-35. Epub 2014 Dec 8 doi: 10.1542/peds.2014-1711. [Epub ahead of print] PMID: 25489013Free PMC Article
Lacroix D, Moutel S, Coupaye M, Huvenne H, Faucher P, Pelloux V, Rouault C, Bastard JP, Cagnard N, Dubern B, Clément K, Poitou C
J Clin Endocrinol Metab 2015 Mar;100(3):850-9. Epub 2014 Dec 5 doi: 10.1210/jc.2014-3127. [Epub ahead of print] PMID: 25478934
Reus L, Pillen S, Pelzer BJ, van Alfen-van der Velden JA, Hokken-Koelega AC, Zwarts M, Otten BJ, Nijhuis-van der Sanden MW
Pediatrics 2014 Dec;134(6):e1619-27. doi: 10.1542/peds.2013-3607. PMID: 25422026
Ihara H, Ogata H, Sayama M, Kato A, Gito M, Murakami N, Kido Y, Nagai T
Am J Med Genet A 2014 Sep;164A(9):2226-31. Epub 2014 Jun 20 doi: 10.1002/ajmg.a.36634. [Epub ahead of print] PMID: 24953026Free PMC Article

Diagnosis

Reus L, Pillen S, Pelzer BJ, van Alfen-van der Velden JA, Hokken-Koelega AC, Zwarts M, Otten BJ, Nijhuis-van der Sanden MW
Pediatrics 2014 Dec;134(6):e1619-27. doi: 10.1542/peds.2013-3607. PMID: 25422026
Lin D, Wang Q, Ran H, Liu K, Wang Y, Wang J, Liu Y, Chen R, Sun Y, Liu R, Ding F
Endocrinology 2014 Jul;155(7):2355-62. Epub 2014 Apr 15 doi: 10.1210/en.2013-2083. [Epub ahead of print] PMID: 24735326
Sedky K, Bennett DS, Pumariega A
J Clin Sleep Med 2014 Apr 15;10(4):403-9. doi: 10.5664/jcsm.3616. PMID: 24733986Free PMC Article
Chang CW, Hsu HK, Kao CC, Huang JY, Kuo PL
Int J Gynaecol Obstet 2014 Apr;125(1):18-21. Epub 2014 Jan 2 doi: 10.1016/j.ijgo.2013.09.028. [Epub ahead of print] PMID: 24434231
Cadoudal T, Buléon M, Sengenès C, Diene G, Desneulin F, Molinas C, Eddiry S, Conte-Auriol F, Daviaud D, Martin PG, Bouloumié A, Salles JP, Tauber M, Valet P
Int J Obes (Lond) 2014 Sep;38(9):1234-40. Epub 2014 Jan 10 doi: 10.1038/ijo.2014.3. [Epub ahead of print] PMID: 24406482

Therapy

Lacroix D, Moutel S, Coupaye M, Huvenne H, Faucher P, Pelloux V, Rouault C, Bastard JP, Cagnard N, Dubern B, Clément K, Poitou C
J Clin Endocrinol Metab 2015 Mar;100(3):850-9. Epub 2014 Dec 5 doi: 10.1210/jc.2014-3127. [Epub ahead of print] PMID: 25478934
Bakker NE, Wolffenbuttel KP, Looijenga LH, Hokken-Koelega AC
J Urol 2015 Jan;193(1):291-8. Epub 2014 Aug 7 doi: 10.1016/j.juro.2014.07.113. [Epub ahead of print] PMID: 25109686
Reus L, Pillen S, Pelzer BJ, van Alfen-van der Velden JA, Hokken-Koelega AC, Zwarts M, Otten BJ, Nijhuis-van der Sanden MW
Pediatrics 2014 Dec;134(6):e1619-27. doi: 10.1542/peds.2013-3607. PMID: 25422026
Olarescu NC, Jørgensen AP, Godang K, Jurik AG, Frøslie KF, Bollerslev J
J Clin Endocrinol Metab 2014 Sep;99(9):E1727-31. Epub 2014 Jun 23 doi: 10.1210/jc.2014-2059. [Epub ahead of print] PMID: 24955611
Cadoudal T, Buléon M, Sengenès C, Diene G, Desneulin F, Molinas C, Eddiry S, Conte-Auriol F, Daviaud D, Martin PG, Bouloumié A, Salles JP, Tauber M, Valet P
Int J Obes (Lond) 2014 Sep;38(9):1234-40. Epub 2014 Jan 10 doi: 10.1038/ijo.2014.3. [Epub ahead of print] PMID: 24406482

Prognosis

Einfeld SL, Smith E, McGregor IS, Steinbeck K, Taffe J, Rice LJ, Horstead SK, Rogers N, Hodge MA, Guastella AJ
Am J Med Genet A 2014 Sep;164A(9):2232-9. Epub 2014 Jun 30 doi: 10.1002/ajmg.a.36653. [Epub ahead of print] PMID: 24980612
Jørgensen AP, Ueland T, Sode-Carlsen R, Schreiner T, Rabben KF, Farholt S, Høybye C, Christiansen JS, Bollerslev J
Growth Horm IGF Res 2014 Feb;24(1):16-21. Epub 2013 Dec 4 doi: 10.1016/j.ghir.2013.11.002. [Epub ahead of print] PMID: 24360789
Marostica E, Grugni G, De Nicolao G, Marazzi N, Crinò A, Cappa M, Sartorio A
Growth Horm IGF Res 2013 Dec;23(6):261-6. Epub 2013 Sep 19 doi: 10.1016/j.ghir.2013.09.004. [Epub ahead of print] PMID: 24090687
Hauber M, Stratmann B, Hoedebeck-Stuntebeck N, Tschoepe D
Metab Syndr Relat Disord 2013 Dec;11(6):392-6. Epub 2013 Jul 20 doi: 10.1089/met.2012.0178. [Epub ahead of print] PMID: 23869419
Grugni G, Beccaria L, Corrias A, Crinò A, Cappa M, De Medici C, Di Candia S, Gargantini L, Ragusa L, Salvatoni A, Sartorio A, Spera S, Andrulli S, Chiumello G, Mussa A; Genetic Obesity Study Group of the Italian Society of Pediatric Endocrinology and Diabetology (ISPED)
Clin Endocrinol (Oxf) 2013 Sep;79(3):371-8. Epub 2013 May 11 doi: 10.1111/cen.12150. [Epub ahead of print] PMID: 23311724

Clinical prediction guides

Rubin DA, Clark SJ, Ng J, Castner DM, Haqq AM, Judelson DA
Metabolism 2015 Mar;64(3):391-5. Epub 2014 Dec 2 doi: 10.1016/j.metabol.2014.11.011. [Epub ahead of print] PMID: 25524794
Cruvinel E, Budinetz T, Germain N, Chamberlain S, Lalande M, Martins-Taylor K
Hum Mol Genet 2014 Sep 1;23(17):4674-85. Epub 2014 Apr 23 doi: 10.1093/hmg/ddu187. [Epub ahead of print] PMID: 24760766
Zilina O, Kahre T, Talvik I, Oiglane-Shlik E, Tillmann V, Ounap K
Eur J Med Genet 2014 May-Jun;57(6):279-83. Epub 2014 Apr 2 doi: 10.1016/j.ejmg.2014.03.007. [Epub ahead of print] PMID: 24704109
Oto Y, Tanaka Y, Abe Y, Obata K, Tsuchiya T, Yoshino A, Murakami N, Nagai T
Am J Med Genet A 2014 Mar;164A(3):671-5. Epub 2014 Jan 17 doi: 10.1002/ajmg.a.36355. [Epub ahead of print] PMID: 24443368
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