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==Overview==
The hallmark of delayed [[puberty]] is lack of [[testicular]] enlargement in boys or [[breast]] development in girls at a specific age. [[Secondary sexual characteristics]] are checked in 2-2.5 [[standard deviation]] more than the average age of [[puberty]] onset in standard population, 14 years for boys and 13 years for girls. A positive [[family history]] of delayed [[puberty]] is frequently seen in delayed [[puberty]]. The most common symptom of delayed [[puberty]] is [[anosmia]] or [[hyposmia]]. Symptoms of underlying [[comorbidities]] are less common symptoms in delayed [[puberty]].


==Overview==
==History and Symptoms==
A complete medical history, review of systems, growth pattern, and physical examination will reveal most of the systemic diseases and conditions capable of arresting development or delaying puberty, as well as providing clues to some of the recognizable [[syndrome]]s affecting the reproductive system.
*The hallmark of delayed [[puberty]] is lack of [[testicular]] enlargement in boys or [[breast]] development in girls at a specific age. [[Secondary sexual characteristics]] are checked in 2-2.5 [[Standard deviation|standard deviation]] more than the average age of [[puberty]] onset in standard population, 14 years for boys and 13 years for girls. A positive [[family history]] of delayed [[puberty]] is frequently seen in delayed [[puberty]]. The most common symptom of delayed [[puberty]] is [[anosmia]] or [[hyposmia]].<ref name="PalmertDunkel2012">{{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>
===History===
Patients with delayed puberty may have a positive history of one or more of the following:<ref name="PalmertDunkel2012" />
*Delayed [[puberty]] in family
*[[Anosmia]]
*[[Hyposmia]]
* [[Mumps]]
* [[Cryptorchidism]]
* [[Testicular]] [[trauma]]
* [[Testicular torsion]]
* [[Sickle cell disease]]
* [[Thalassemia]]
* [[Obesity]]
* [[Cystic fibrosis]]
* [[Asthma]]
* [[Inflammatory bowel disease]]
* [[Celiac disease]]
* [[Diabetes mellitus]]
* Excessive [[exercise]]
* [[Malnutrition]]
*[[Gonadal dysgenesis]]
*[[Vanishing testes syndrome]]
*[[Coxsackie virus]]
*[[Galactosemia]]
*Autoimmune [[oophoritis]]
*Autoimmune [[orchitis]]
*[[5-alpha reductase deficiency]]
*17,20-[[lyase]] deficiency
*[[Lipoid congenital adrenal hyperplasia|Congenital lipoid adrenal hyperplasia]]
*[[Androgen insensitivity]]
*[[Sertoli cell]] only syndrome (Del Castillo syndrome)
*[[Astrocytoma]]
*[[Germinoma]]
{| align="right"
| [[image:Klinefelter's syndrome.jpg|thumb|500px|Klinefelter's syndrome - via Wikimedia Commons<ref>http://smithperiod6.wikispaces.com/Klinefelter's+Syndrome [CC BY-SA 3.0 (http://creativecommons.org/licenses/by-sa/3.0) or Attribution]</ref> ]]
|- |
| [[image:PWS8.png|thumb|320px|Prader-Willi syndrome - via Wikimedia Commons<ref>By Fanny Cortés M1, M. Angélica Alliende R1,a, Andrés Barrios R1,2, Bianca Curotto L1,b, Lorena Santa María V1,c, Ximena Barraza O3, Ledia Troncoso A2, Cecilia Mellado S4,6, Rosa Pardo V [CC BY 4.0 (http://creativecommons.org/licenses/by/4.0)]</ref>]]
|- |
| [[image:Charge.jpg|thumb|320px|CHARGE syndrome, ear abnormality - via Wikimedia Commons <ref>By Kim D Blake, Chitra Prasad [CC BY 2.0 (http://creativecommons.org/licenses/by/2.0)]</ref>]]
|}
*[[Glioma]]
*[[Craniopharyngioma]]
*[[Prolactinoma]]
*Post [[central nervous system]] [[infection]]
*Congenital [[hypopituitarism]]
*[[Chemotherapy]]
*[[Radiation therapy]]
*[[Anorexia nervosa]]
*[[Bulimia]]
*[[Hemosiderosis]]
*[[Chronic renal disease]]
*[[AIDS]]
*[[Hypothyroidism]]
*[[Growth hormone deficiency]]
*[[Cushing syndrome]]
 
===Common Symptoms===
Common symptoms of delayed [[puberty]] are:
*'''''Lack of breast development'''''
**The first sign of [[puberty]] in girls is [[thelarche]] ([[breast]] development).<ref name="pmid5785179">{{cite journal| author=Marshall WA, Tanner JM| title=Variations in pattern of pubertal changes in girls. | journal=Arch Dis Child | year= 1969 | volume= 44 | issue= 235 | pages= 291-303 | pmid=5785179 | doi= | pmc=2020314 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=5785179  }}</ref>
*'''''Lack of pubic and axillary hair'''''
**[[Pubic hair|Pubic]] and [[axillary hair]], [[body odor]], and also [[acne]] are results of adrenal [[androgens]].
**[[Axillary hair|Axillary hairs]] are grown in the middle of [[puberty]].
*'''''Lack of menarche'''''
**The best identifier of [[puberty]] onset in girls is [[menarche]].
**Most of the times, it occurs by the time of [[thelarche]] stage 4.
*'''''Anosmia/Hyposmia'''''
**[[Kallmann syndrome]] is associated with lack of [[neural tissue]] migration to [[olfactory bulbs]] in [[Central nervous system|central nervous system (CNS)]].
**[[Kallmann syndrome]] is a cause of [[hypogonadotropic hypogonadism]].<ref name="pmid8133589">{{cite journal |vauthors=Rugarli EI, Ballabio A |title=Kallmann syndrome. From genetics to neurobiology |journal=JAMA |volume=270 |issue=22 |pages=2713–6 |year=1993 |pmid=8133589 |doi= |url=}}</ref>
===Less Common Symptoms===
Less common symptoms of delayed [[puberty]] are the symptoms related to its underlying [[diseases]], include:
*'''''Turner's syndrome'''''
**[[Short stature]]
**[[Webbed neck]]
**Low posterior hairline
**Prominent posterior rotated [[ears]]<ref name="pmid10727994">{{cite journal |vauthors=Simpson JL, Rajkovic A |title=Ovarian differentiation and gonadal failure |journal=Am. J. Med. Genet. |volume=89 |issue=4 |pages=186–200 |year=1999 |pmid=10727994 |doi= |url=}}</ref>
*'''''Klinefelter syndrome'''''
**Tall stature
**Greater [[lower limbs]] proportion
**[[Atrophic]] [[testes|testis]]
**[[Developmental delay]]
**[[Gynecomastia]]<ref name="pmid9645824">{{cite journal |vauthors=Smyth CM, Bremner WJ |title=Klinefelter syndrome |journal=Arch. Intern. Med. |volume=158 |issue=12 |pages=1309–14 |year=1998 |pmid=9645824 |doi= |url=}}</ref>
*'''''Prader-Willi syndrome'''''
**[[Hypotonia]]
**[[Hyperphagia]]
**[[Obesity]]<ref name="pmid22237428">{{cite journal| author=Cassidy SB, Schwartz S, Miller JL, Driscoll DJ| title=Prader-Willi syndrome. | journal=Genet Med | year= 2012 | volume= 14 | issue= 1 | pages= 10-26 | pmid=22237428 | doi=10.1038/gim.0b013e31822bead0 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22237428  }}</ref>


==History==
* '''''CHARGE syndrome'''''
==Symptoms==
** [[Coloboma]]
** [[Heart defects]] (especially, [[tetralogy of Fallot]])
**[[Choanal atresia|Atresia of the choanae]]
**Retardation of [[growth]] and development
**[[Genital]] underdevelopment
**[[Ear]] abnormalities<ref name="urlCHARGE syndrome - Genetics Home Reference">{{cite web |url=https://ghr.nlm.nih.gov/condition/charge-syndrome |title=CHARGE syndrome - Genetics Home Reference |format= |work= |accessdate=}}</ref>
*'''''Septo-optic dysplasia'''''<ref name="urlsepto-optic dysplasia - Genetics Home Reference">{{cite web |url=https://ghr.nlm.nih.gov/condition/septo-optic-dysplasia#diagnosis |title=septo-optic dysplasia - Genetics Home Reference |format= |work= |accessdate=}}</ref>
**[[Visual impairment]]
**[[Nystagmus]]
**Recurrent [[seizures]] ([[epilepsy]])
**Abnormal movements


==References==
==References==
{{reflist|2}}
{{reflist|2}}


​
{{WS}}
{{WH}}
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[[Category:Disease]]
[[Category:Disease]]
[[Category:Medicine]]
[[Category:Pediatrics]]
[[Category:Endocrinology]]
[[Category:Endocrinology]]
[[Category:Mature chapter]]
[[Category:Developmental biology]]
[[Category:Sexuality and age]]
[[Category:Sexual health]]
[[Category:Growth disorders]]
[[Category:Congenital disorders]]
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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

The hallmark of delayed puberty is lack of testicular enlargement in boys or breast development in girls at a specific age. Secondary sexual characteristics are checked in 2-2.5 standard deviation more than the average age of puberty onset in standard population, 14 years for boys and 13 years for girls. A positive family history of delayed puberty is frequently seen in delayed puberty. The most common symptom of delayed puberty is anosmia or hyposmia. Symptoms of underlying comorbidities are less common symptoms in delayed puberty.

History and Symptoms

History

Patients with delayed puberty may have a positive history of one or more of the following:[1]

Klinefelter's syndrome - via Wikimedia Commons[2]
Prader-Willi syndrome - via Wikimedia Commons[3]
CHARGE syndrome, ear abnormality - via Wikimedia Commons [4]

Common Symptoms

Common symptoms of delayed puberty are:

Less Common Symptoms

Less common symptoms of delayed puberty are the symptoms related to its underlying diseases, include:

References

  1. ↑ 1.0 1.1 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. ↑ http://smithperiod6.wikispaces.com/Klinefelter's+Syndrome [CC BY-SA 3.0 (http://creativecommons.org/licenses/by-sa/3.0) or Attribution]
  3. ↑ By Fanny Cortés M1, M. Angélica Alliende R1,a, Andrés Barrios R1,2, Bianca Curotto L1,b, Lorena Santa María V1,c, Ximena Barraza O3, Ledia Troncoso A2, Cecilia Mellado S4,6, Rosa Pardo V [CC BY 4.0 (http://creativecommons.org/licenses/by/4.0)]
  4. ↑ By Kim D Blake, Chitra Prasad [CC BY 2.0 (http://creativecommons.org/licenses/by/2.0)]
  5. ↑ Marshall WA, Tanner JM (1969). "Variations in pattern of pubertal changes in girls". Arch Dis Child. 44 (235): 291–303. PMC 2020314. PMID 5785179.
  6. ↑ Rugarli EI, Ballabio A (1993). "Kallmann syndrome. From genetics to neurobiology". JAMA. 270 (22): 2713–6. PMID 8133589.
  7. ↑ Simpson JL, Rajkovic A (1999). "Ovarian differentiation and gonadal failure". Am. J. Med. Genet. 89 (4): 186–200. PMID 10727994.
  8. ↑ Smyth CM, Bremner WJ (1998). "Klinefelter syndrome". Arch. Intern. Med. 158 (12): 1309–14. PMID 9645824.
  9. ↑ 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.
  10. ↑ "CHARGE syndrome - Genetics Home Reference".
  11. ↑ "septo-optic dysplasia - Genetics Home Reference".

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