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==Overview==
==Overview==
Patients with delayed [[puberty]] usually appear normal. Physical examination of patients with delayed [[puberty]] is usually remarkable for delayed [[growth spurt]] along with the small [[testicular]] size (less than 4 mL or 2.5 cm) in boys older than 14 and [[thelarche]] stage 0-1 in girls older than 13. [[Testicular]] size is either the length of the longest axis or the volume using the Prader [[orchidometer]]. [[Thelarche]] stage is determined in [[Tanner staging]] system. The lack of pubic or [[Axillary hair|axillary hairs]] and also [[amenorrhea]] are highly suggestive of delayed [[puberty]].


==Physical Examination==
==Physical Examination==
*Physical examination of patients with delayed [[puberty]] is usually remarkable for small [[testicular]] size (less than 4 mL or 2.5 cm) in boys older than 14 and [[thelarche]] stage 0-1 in girls older than 13.<ref name="PalmertDunkel20122">{{cite journal|last1=Palmert|first1=Mark R.|last2=Dunkel|first2=Leo|title=Delayed Puberty|journal=New England Journal of Medicine|volume=366|issue=5|year=2012|pages=443–453|issn=0028-4793|doi=10.1056/NEJMcp1109290}}</ref>
**[[Testicular]] size is identified by the length of the longest axis or by its volume using the Prader [[orchidometer]]. 
**[[Thelarche]] stage is determined by use of [[Tanner staging]] system.
*The lack of pubic or [[Axillary hair|axillary hairs]] and also primary [[amenorrhea]] is highly suggestive of delayed [[puberty]].
=== Growth Rate ===
*A rate of less than 3 cm per year, in both sexes during early [[adolescence]], suggests a [[growth retardation]].
*The main reasons for [[growth retardation]] are [[Growth hormone|growth hormone (GH)]] deficiency, [[hypercortisolism]], and [[hypothyroidism]]. Decreased rate of [[growth]] may reflect the [[Constitutional delay of puberty|constitutional delay of growth and puberty (CDGP)]].
*[[Overweight]] boys with delayed [[puberty]] will ultimately reach their genetic height potential.<ref name="pmid20124142">{{cite journal |vauthors=Lee JM, Kaciroti N, Appugliese D, Corwyn RF, Bradley RH, Lumeng JC |title=Body mass index and timing of pubertal initiation in boys |journal=Arch Pediatr Adolesc Med |volume=164 |issue=2 |pages=139–44 |year=2010 |pmid=20124142 |pmc=4172573 |doi=10.1001/archpediatrics.2009.258 |url=}}</ref><ref name="pmid16995581">{{cite journal |vauthors=Nathan BM, Sedlmeyer IL, Palmert MR |title=Impact of body mass index on growth in boys with delayed puberty |journal=J. Pediatr. Endocrinol. Metab. |volume=19 |issue=8 |pages=971–7 |year=2006 |pmid=16995581 |doi= |url=}}</ref>
===Appearance of the Patient===
*Patients with delayed [[puberty]] usually appear normal.
*Patients appear to be younger than their chronological age, due to lack of adult type [[sexual characteristics]].
*They may have a mildly [[depressed mood]], because of delayed puberty.<ref name="pmid3302895">{{cite journal |vauthors=Lee PD, Rosenfeld RG |title=Psychosocial correlates of short stature and delayed puberty |journal=Pediatr. Clin. North Am. |volume=34 |issue=4 |pages=851–63 |year=1987 |pmid=3302895 |doi= |url=}}</ref>
*The proportion of upper to lower body parts is more than normal.
===Vital Signs===
*Usually within the normal limits
===HEENT===
*[[Anosmia]]/[[Hyposmia]] may be seen in [[Kallmann syndrome]].
*[[Nystagmus]] and [[visual impairment]] may be seen in [[septo-optic dysplasia]].
*[[Hearing loss|Hearing acuity loss]], [[choanal atresia]], and [[coloboma]] may be seen in [[CHARGE syndrome]].<ref name="pmid26044035">{{cite journal |vauthors=Dörr HG, Boguszewski M, Dahlgren J, Dunger D, Geffner ME, Hokken-Koelega AC, Lindberg A, Polak M, Rooman R |title=Short Children with CHARGE Syndrome: Do They Benefit from Growth Hormone Therapy? |journal=Horm Res Paediatr |volume=84 |issue=1 |pages=49–53 |year=2015 |pmid=26044035 |doi=10.1159/000382017 |url=}}</ref>
*Prominent posterior rotated [[ears]] may be seen in [[Turner's syndrome]].
===Neck===
*[[Webbed neck]] may be seen in [[Turner's syndrome]].
{| align="right"
|[[image:PMC3093801 cln-66-04-691-g001.png|thumb|400px|Orchidometer - via NIH.gov <ref>https://openi.nlm.nih.gov/detailedresult.php?img=PMC3093801_cln-66-04-691-g001&req=4</ref>]]
|}
=== Breast ===
* No [[breast]] development ([[thelarche]]) in more than 13 years old girls.
* [[Gynecomastia]] in [[Klinefelter's syndrome]].<ref name="pmid26205184" />
===Heart===
*[[Tetralogy of Fallot]] may be seen in [[CHARGE syndrome]].<ref name="pmid26044035" />
*[[Bicuspid aortic valve]] or [[aortic]] dilation may be seen in [[Turner's syndrome]].<ref name="pmid18504294">{{cite journal |vauthors=Lopez L, Arheart KL, Colan SD, Stein NS, Lopez-Mitnik G, Lin AE, Reller MD, Ventura R, Silberbach M |title=Turner syndrome is an independent risk factor for aortic dilation in the young |journal=Pediatrics |volume=121 |issue=6 |pages=e1622–7 |year=2008 |pmid=18504294 |doi=10.1542/peds.2007-2807 |url=}}</ref>
===Abdomen===
*[[Abdominal obesity]] may be seen in [[Prader-Willi syndrome]].<ref name="pmid22237428" />
===Genitourinary===
*[[Testicular]] volume less than 4 mL or [[testicular]] longitudinal length less than 2.5 cm in more than 14 years old boys.
*[[Atrophic|Atrophied]] [[testes]] may be seen in [[Klinefelter's syndrome]].<ref name="pmid26205184">{{cite journal |vauthors=Close S, Fennoy I, Smaldone A, Reame N |title=Phenotype and Adverse Quality of Life in Boys with Klinefelter Syndrome |journal=J. Pediatr. |volume=167 |issue=3 |pages=650–7 |year=2015 |pmid=26205184 |doi=10.1016/j.jpeds.2015.06.037 |url=}}</ref>
*Lack of [[pubic hair]] and any other [[secondary sexual characteristics]]
{{familytree/start |summary=PE diagnosis Algorithm.}}
{{familytree | | | | | | | | | | | | | | | | | | | | | | }}
{{familytree | | | | | | | | | |,|-| A01 |-| A02 |-| A03 | |A01= Stage 1|A02= Prepubertal [[external genitalia]]<br>Prepubertal pubic hair<br>[[Growth]] 5-6 cm/year|A03=[[image:m1.jpg|by:By Tanner_scale-male.svg: M•Komorniczak -talk-, polish wikipedist.derivative work: J.McHardy (talk) - Tanner_scale-male.svg, CC BY-SA 3.0, https://commons.wikimedia.org/w/index.php?curid=9871642]]}}
{{familytree | | | | | | | | | |!| | | | | | | | | | | | }}
{{familytree | | | | | | | | | |)|-| B01 |-| B02 |-| B03 | |B01= Stage 2|B02= Enlargement of [[scrotum]] and [[testes]]; [[scrotum]] skin become hyperpigmented and harder<br>Sparse [[growth]] of long, slightly pigmented hair, straight or curled, at base of [[penis]]<br>[[Growth]] 5-6 cm/year|B03=[[image:m2.jpg|by:By Tanner_scale-male.svg: M•Komorniczak -talk-, polish wikipedist.derivative work: J.McHardy (talk) - Tanner_scale-male.svg, CC BY-SA 3.0, https://commons.wikimedia.org/w/index.php?curid=9871642]]}}
{{familytree | | | | | | | | | |!| | | | | | | | | | | | }}
{{familytree | | | | | C01 |-|-|+|-| C02 |-| C03 |-| C04 | |C01= '''''Boys'''''|C02= Stage 3|C03= Enlargement of [[penis]] (length at first); further [[testes]] growth <br>Darker, coarser, and more curled hair, spreading over pubes<br>[[Growth]] 7-8 cm/year|C04=[[image:m3.jpg|by:By Tanner_scale-male.svg: M•Komorniczak -talk-, polish wikipedist.derivative work: J.McHardy (talk) - Tanner_scale-male.svg, CC BY-SA 3.0, https://commons.wikimedia.org/w/index.php?curid=9871642]] }}
{{familytree | | | | | |!| | | |!| | | | | | | | | | | | }}
{{familytree | | | | | |!| | | |)|-| D01 |-| D02 |-| D03 | |D01= Stage 4|D02= Increased [[penis]] size with [[growth]] and development of glans; [[testes]] and [[scrotum]] larger, [[scrotum]] skin darker<br>Adult type hair, but smaller area; no spread to medial surface of [[thighs]]<br>[[Growth]] 10 cm/year|D03=[[image:m4.jpg|by:By Tanner_scale-male.svg: M•Komorniczak -talk-, polish wikipedist.derivative work: J.McHardy (talk) - Tanner_scale-male.svg, CC BY-SA 3.0, https://commons.wikimedia.org/w/index.php?curid=9871642]] }}
{{familytree | | | | | |!| | | |!| | | | | | | | | | | | }}
{{familytree | | | | | |!| | | |`|-| E01 |-| E02 |-| E03 | |E01= Stage 5|E02= Adult [[external genitalia]]<br>Adult type hair with same horizontal distribution ("feminine")<br>No further height increase after 17 years|E03=[[image:m5.jpg|by:By Tanner_scale-male.svg: M•Komorniczak -talk-, polish wikipedist.derivative work: J.McHardy (talk) - Tanner_scale-male.svg, CC BY-SA 3.0, https://commons.wikimedia.org/w/index.php?curid=9871642]]}}
{{familytree | | C01 |-|(| | | | | | | | | | | | | | | | |C01='''Tanner staging'''}}
{{familytree | | | | | |!| | | |,|-| A01 |-| A02 |-| A03 | |A01= Stage 1|A02= Prepubertal [[external genitalia]]<br>Prepubertal pubic hair<br>[[Growth]] 5-6 cm/year|A03=[[image:Untitled12365.jpg|by:By Tanner_scale-male.svg: M•Komorniczak -talk-, polish wikipedist.derivative work: J.McHardy (talk) - Tanner_scale-male.svg, CC BY-SA 3.0, https://commons.wikimedia.org/w/index.php?curid=9871642]]}}
{{familytree | | | | | |!| | | |!| | | | | | | | | | | | }}
{{familytree | | | | | |!| | | |)|-| B01 |-| B02 |-| B03 | |B01= Stage 2|B02= Breast bud with elevation of [[breast]] and [[papilla]]; enlargement of [[areola]]<br>Sparse growth of long, slightly pigmented hair, straight or curled, along [[labia]]<br>[[Growth]] 7-8 cm/year|B03=[[image:f22.jpg|by:By Tanner_scale-male.svg: M•Komorniczak -talk-, polish wikipedist.derivative work: J.McHardy (talk) - Tanner_scale-male.svg, CC BY-SA 3.0, https://commons.wikimedia.org/w/index.php?curid=9871642]]}}
{{familytree | | | | | |!| | | |!| | | | | | | | | | | | }}
{{familytree | | | | | C01 |-|-|+|-| C02 |-| C03 |-| C04 | |C01= '''''Girls'''''|C02= Stage 3|C03= Further enlargement of [[breast]] and [[areola]]; no separation of their contour<br>Darker, coarser and more curled hair, spreading sparsely over junction of pubes<br>[[Growth]] 8 cm/year|C04=[[image:f3.jpg|by:By Tanner_scale-male.svg: M•Komorniczak -talk-, polish wikipedist.derivative work: J.McHardy (talk) - Tanner_scale-male.svg, CC BY-SA 3.0, https://commons.wikimedia.org/w/index.php?curid=9871642]]}}
{{familytree | | | | | | | | | |!| | | | | | | | | | | | }}
{{familytree | | | | | | | | | |)|-| D01 |-| D02 |-| D03 | |D01= Stage 4|D02= [[Areola]] and [[papilla]] form a secondary mound above level of [[breast]]<br>Adult type hair, but smaller area than in adult; no spread to medial surface of [[thighs]]<br>[[Growth]] 7 cm/year|D03=[[image:f4.jpg|by:By Tanner_scale-male.svg: M•Komorniczak -talk-, polish wikipedist.derivative work: J.McHardy (talk) - Tanner_scale-male.svg, CC BY-SA 3.0, https://commons.wikimedia.org/w/index.php?curid=9871642]]}}
{{familytree | | | | | | | | | |!| | | | | | | | | | | | }}
{{familytree | | | | | | | | | |`|-| E01 |-| E02 |-| E03 | |E01= Stage 5|E02= Mature [[breast]]: projection of [[papilla]] only, related to recession of [[areola]]<br>Adult type hair with horizontal distribution ("feminine")<br>No further [[growth]] after 16 years|E03=[[image:f5.jpg|by:By Tanner_scale-male.svg: M•Komorniczak -talk-, polish wikipedist.derivative work: J.McHardy (talk) - Tanner_scale-male.svg, CC BY-SA 3.0, https://commons.wikimedia.org/w/index.php?curid=9871642]]}}
{{familytree/end}}
=== Normal puberty timing ===
Approximate mean ages for various pubertal changes are as follows. Developmental changes during [[puberty]] in girls occur over a period of 3-5 years, usually between 9 and 14 years of age. They include the [[secondary sex characteristics]] beginning with [[breast]] [[development]],  adolescent [[growth spurt]], [[menarche]] (not correspond to the end of [[puberty]]), and the acquisition of [[fertility]], as well as profound [[psychological]] alterations.<ref name=":0" />
==== North American, Indo-Iranian (India, Iran) and European girls ====
*[[Thelarche]]: 10 years and 5 months of age   
*[[Pubarche]]: 11 years of age 
*[[Growth spurt]]: 10-12.5 years of age
*[[Menarche]]: 12.5 years of age
*Adult height reached: 14.5 years of age
==== North American, Indo-Iranian (India, Iran) and European boys ====
*[[Testicular]] enlargement: 11.5 years of age
*[[Pubic hair]]: 12 years of age
*[[Growth spurt]]: 12.5–15 years of age
*Completion of [[growth]]: 17.5 years of age
===Neuromuscular===
*[[Hypotonia]] may be seen in [[Prader-Willi syndrome]].<ref name="pmid22237428">{{cite journal |vauthors=Cassidy SB, Schwartz S, Miller JL, Driscoll DJ |title=Prader-Willi syndrome |journal=Genet. Med. |volume=14 |issue=1 |pages=10–26 |year=2012 |pmid=22237428 |doi=10.1038/gim.0b013e31822bead0 |url=}}</ref>
===Extremities===
*More upper to lower body proportion ratio may be seen.


==References==
==References==
{{Reflist|2}}
{{Reflist|2}}


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Latest revision as of 21:15, 29 July 2020

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Eiman Ghaffarpasand, M.D. [2]

Overview

Patients with delayed puberty usually appear normal. Physical examination of patients with delayed puberty is usually remarkable for delayed growth spurt along with the small testicular size (less than 4 mL or 2.5 cm) in boys older than 14 and thelarche stage 0-1 in girls older than 13. Testicular size is either the length of the longest axis or the volume using the Prader orchidometerThelarche stage is determined in Tanner staging system. The lack of pubic or axillary hairs and also amenorrhea are highly suggestive of delayed puberty.

Physical Examination

Growth Rate

Appearance of the Patient

  • Patients with delayed puberty usually appear normal.
  • Patients appear to be younger than their chronological age, due to lack of adult type sexual characteristics.
  • They may have a mildly depressed mood, because of delayed puberty.[4]
  • The proportion of upper to lower body parts is more than normal.

Vital Signs

  • Usually within the normal limits

HEENT

Neck

Orchidometer - via NIH.gov [6]

Breast

Heart

Abdomen

Genitourinary

 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Stage 1
 
Prepubertal external genitalia
Prepubertal pubic hair
Growth 5-6 cm/year
 
by:By Tanner_scale-male.svg: M•Komorniczak -talk-, polish wikipedist.derivative work: J.McHardy (talk) - Tanner_scale-male.svg, CC BY-SA 3.0, https://commons.wikimedia.org/w/index.php?curid=9871642
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Stage 2
 
Enlargement of scrotum and testes; scrotum skin become hyperpigmented and harder
Sparse growth of long, slightly pigmented hair, straight or curled, at base of penis
Growth 5-6 cm/year
 
by:By Tanner_scale-male.svg: M•Komorniczak -talk-, polish wikipedist.derivative work: J.McHardy (talk) - Tanner_scale-male.svg, CC BY-SA 3.0, https://commons.wikimedia.org/w/index.php?curid=9871642
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Boys
 
 
 
 
 
Stage 3
 
Enlargement of penis (length at first); further testes growth
Darker, coarser, and more curled hair, spreading over pubes
Growth 7-8 cm/year
 
by:By Tanner_scale-male.svg: M•Komorniczak -talk-, polish wikipedist.derivative work: J.McHardy (talk) - Tanner_scale-male.svg, CC BY-SA 3.0, https://commons.wikimedia.org/w/index.php?curid=9871642
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Stage 4
 
Increased penis size with growth and development of glans; testes and scrotum larger, scrotum skin darker
Adult type hair, but smaller area; no spread to medial surface of thighs
Growth 10 cm/year
 
by:By Tanner_scale-male.svg: M•Komorniczak -talk-, polish wikipedist.derivative work: J.McHardy (talk) - Tanner_scale-male.svg, CC BY-SA 3.0, https://commons.wikimedia.org/w/index.php?curid=9871642
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Stage 5
 
Adult external genitalia
Adult type hair with same horizontal distribution ("feminine")
No further height increase after 17 years
 
by:By Tanner_scale-male.svg: M•Komorniczak -talk-, polish wikipedist.derivative work: J.McHardy (talk) - Tanner_scale-male.svg, CC BY-SA 3.0, https://commons.wikimedia.org/w/index.php?curid=9871642
 
 
 
 
 
 
Tanner staging
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Stage 1
 
Prepubertal external genitalia
Prepubertal pubic hair
Growth 5-6 cm/year
 
by:By Tanner_scale-male.svg: M•Komorniczak -talk-, polish wikipedist.derivative work: J.McHardy (talk) - Tanner_scale-male.svg, CC BY-SA 3.0, https://commons.wikimedia.org/w/index.php?curid=9871642
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Stage 2
 
Breast bud with elevation of breast and papilla; enlargement of areola
Sparse growth of long, slightly pigmented hair, straight or curled, along labia
Growth 7-8 cm/year
 
by:By Tanner_scale-male.svg: M•Komorniczak -talk-, polish wikipedist.derivative work: J.McHardy (talk) - Tanner_scale-male.svg, CC BY-SA 3.0, https://commons.wikimedia.org/w/index.php?curid=9871642
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Girls
 
 
 
 
 
Stage 3
 
Further enlargement of breast and areola; no separation of their contour
Darker, coarser and more curled hair, spreading sparsely over junction of pubes
Growth 8 cm/year
 
by:By Tanner_scale-male.svg: M•Komorniczak -talk-, polish wikipedist.derivative work: J.McHardy (talk) - Tanner_scale-male.svg, CC BY-SA 3.0, https://commons.wikimedia.org/w/index.php?curid=9871642
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Stage 4
 
Areola and papilla form a secondary mound above level of breast
Adult type hair, but smaller area than in adult; no spread to medial surface of thighs
Growth 7 cm/year
 
by:By Tanner_scale-male.svg: M•Komorniczak -talk-, polish wikipedist.derivative work: J.McHardy (talk) - Tanner_scale-male.svg, CC BY-SA 3.0, https://commons.wikimedia.org/w/index.php?curid=9871642
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Stage 5
 
Mature breast: projection of papilla only, related to recession of areola
Adult type hair with horizontal distribution ("feminine")
No further growth after 16 years
 
by:By Tanner_scale-male.svg: M•Komorniczak -talk-, polish wikipedist.derivative work: J.McHardy (talk) - Tanner_scale-male.svg, CC BY-SA 3.0, https://commons.wikimedia.org/w/index.php?curid=9871642
 
 
 
 
 

Normal puberty timing

Approximate mean ages for various pubertal changes are as follows. Developmental changes during puberty in girls occur over a period of 3-5 years, usually between 9 and 14 years of age. They include the secondary sex characteristics beginning with breast development, adolescent growth spurt, menarche (not correspond to the end of puberty), and the acquisition of fertility, as well as profound psychological alterations.[10]

North American, Indo-Iranian (India, Iran) and European girls

North American, Indo-Iranian (India, Iran) and European boys

Neuromuscular

Extremities

  • More upper to lower body proportion ratio may be seen.

References

  1. Palmert, Mark R.; Dunkel, Leo (2012). "Delayed Puberty". New England Journal of Medicine. 366 (5): 443–453. doi:10.1056/NEJMcp1109290. ISSN 0028-4793.
  2. Lee JM, Kaciroti N, Appugliese D, Corwyn RF, Bradley RH, Lumeng JC (2010). "Body mass index and timing of pubertal initiation in boys". Arch Pediatr Adolesc Med. 164 (2): 139–44. doi:10.1001/archpediatrics.2009.258. PMC 4172573. PMID 20124142.
  3. Nathan BM, Sedlmeyer IL, Palmert MR (2006). "Impact of body mass index on growth in boys with delayed puberty". J. Pediatr. Endocrinol. Metab. 19 (8): 971–7. PMID 16995581.
  4. Lee PD, Rosenfeld RG (1987). "Psychosocial correlates of short stature and delayed puberty". Pediatr. Clin. North Am. 34 (4): 851–63. PMID 3302895.
  5. 5.0 5.1 Dörr HG, Boguszewski M, Dahlgren J, Dunger D, Geffner ME, Hokken-Koelega AC, Lindberg A, Polak M, Rooman R (2015). "Short Children with CHARGE Syndrome: Do They Benefit from Growth Hormone Therapy?". Horm Res Paediatr. 84 (1): 49–53. doi:10.1159/000382017. PMID 26044035.
  6. https://openi.nlm.nih.gov/detailedresult.php?img=PMC3093801_cln-66-04-691-g001&req=4
  7. 7.0 7.1 Close S, Fennoy I, Smaldone A, Reame N (2015). "Phenotype and Adverse Quality of Life in Boys with Klinefelter Syndrome". J. Pediatr. 167 (3): 650–7. doi:10.1016/j.jpeds.2015.06.037. PMID 26205184.
  8. Lopez L, Arheart KL, Colan SD, Stein NS, Lopez-Mitnik G, Lin AE, Reller MD, Ventura R, Silberbach M (2008). "Turner syndrome is an independent risk factor for aortic dilation in the young". Pediatrics. 121 (6): e1622–7. doi:10.1542/peds.2007-2807. PMID 18504294.
  9. 9.0 9.1 Cassidy SB, Schwartz S, Miller JL, Driscoll DJ (2012). "Prader-Willi syndrome". Genet. Med. 14 (1): 10–26. doi:10.1038/gim.0b013e31822bead0. PMID 22237428.

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