Delayed puberty history and symptoms: Difference between revisions

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==Overview==
==Overview==
The hallmark of delayed [[puberty]] is lack of [[testicular]] enlargement in boys or [[breast]] development in girls in a specific stage of life. The age, in which [[secondary sexual characteristics]] are checked, is 2-2.5 [[Standard deviation|SD]] more than the standard population average age of [[puberty]] onset; the age is 14 for boys and 13 for girls, on average. A positive [[family history]] of delayed [[puberty]] is strongly associated with delayed [[puberty]]. The most common contributing symptom of delayed [[puberty]] is [[anosmia]] or [[hyposmia]]. Less common symptoms of delayed [[puberty]] include the symptoms related to its underlying [[diseases]].
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 and Symptoms==
*The hallmark of delayed [[puberty]] is lack of [[testicular]] enlargement in boys or [[breast]] development in girls in a specific stage of life. The age, in which [[secondary sexual characteristics]] are checked, is 2-2.5 [[Standard deviation|SD]] more than the standard population average age of [[puberty]] onset; the age is 14 for boys and 13 for girls, on average. A positive [[family history]] of delayed [[puberty]] is strongly associated with delayed [[puberty]]. The most common contributing 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>
*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===
===History===
Patients with delayed puberty may have a positive history of:<ref name="PalmertDunkel2012" />
Patients with delayed puberty may have a positive history of one or more of the following:<ref name="PalmertDunkel2012" />
*Delayed [[puberty]] in family
*Delayed [[puberty]] in family
*[[Anosmia]]
*[[Anosmia]]
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* [[Mumps]]
* [[Mumps]]
* [[Cryptorchidism]]
* [[Cryptorchidism]]
* Testicular [[trauma]]
* [[Testicular]] [[trauma]]
* [[Testicular torsion]]
* [[Testicular torsion]]
* [[Sickle cell disease]]
* [[Sickle cell disease]]
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*[[Coxsackie virus]]
*[[Coxsackie virus]]
*[[Galactosemia]]
*[[Galactosemia]]
*Autoimmune oophoritis
*Autoimmune [[oophoritis]]
*Autoimmune [[orchitis]]
*Autoimmune [[orchitis]]
*[[5-alpha reductase deficiency]]
*[[5-alpha reductase deficiency]]
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*[[Craniopharyngioma]]
*[[Craniopharyngioma]]
*[[Prolactinoma]]
*[[Prolactinoma]]
*Post [[central nervous system]] infection
*Post [[central nervous system]] [[infection]]
*Congenital [[hypopituitarism]]
*Congenital [[hypopituitarism]]
*[[Chemotherapy]]
*[[Chemotherapy]]
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===Common Symptoms===
===Common Symptoms===
Common symptoms of delayed [[puberty]] are including:
Common symptoms of delayed [[puberty]] are:
*'''''Lack of testicular enlargement'''''<ref name="pmid5440182">{{cite journal| author=Marshall WA, Tanner JM| title=Variations in the pattern of pubertal changes in boys. | journal=Arch Dis Child | year= 1970 | volume= 45 | issue= 239 | pages= 13-23 | pmid=5440182 | doi= | pmc=2020414 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=5440182  }}</ref>
*'''''Lack of breast development'''''
**[[Testes]] volume less than 3 mL.
**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>  
**[[Testicular]] size can be concluded by measuring its volume using Prader [[orchidometer]] or measuring its longest axis length.
**The volume of 4 mL or longest axis of 2.5 cm demonstrate the onset of [[puberty]].
*'''''Lack of 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>
**The first sign of [[puberty]] in girls is [[thelarche]] ([[breast]] development)
*'''''Lack of pubic and axillary hair'''''
*'''''Lack of pubic and axillary hair'''''
**[[Pubic hair|Pubic]] and [[axillary hair]], [[body odor]], and also [[acne]] are results of adrenal [[androgens]].
**[[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]].
**[[Axillary hair|Axillary hairs]] are grown in the middle of [[puberty]].
*'''''Lack of menarche'''''
*'''''Lack of menarche'''''
**The best identifier of [[puberty]] onset in girls
**The best identifier of [[puberty]] onset in girls is [[menarche]].
**Most of the times, it occurs by the time of [[thelarche]] stage 4.
**Most of the times, it occurs by the time of [[thelarche]] stage 4.
*'''''Lack of growth spurt'''''
**By the time of [[puberty]] onset, there is a surge in [[Growth hormone|growth hormone (GH)]] secretion. [[Sex steroids]] also have some roles in increasing the [[growth]] rate in [[puberty]].<ref name="pmid2760171">{{cite journal |vauthors=Martha PM, Rogol AD, Veldhuis JD, Kerrigan JR, Goodman DW, Blizzard RM |title=Alterations in the pulsatile properties of circulating growth hormone concentrations during puberty in boys |journal=J. Clin. Endocrinol. Metab. |volume=69 |issue=3 |pages=563–70 |year=1989 |pmid=2760171 |doi=10.1210/jcem-69-3-563 |url=}}</ref>
**The main determinant of [[growth]] rate elevation during [[puberty]] is increasing [[GH]] response due to the [[estrogen]], either from the ovary or from [[aromatization]] of [[testosterone]] produced by [[testes]].<ref name="pmid9329378">{{cite journal |vauthors=Veldhuis JD, Metzger DL, Martha PM, Mauras N, Kerrigan JR, Keenan B, Rogol AD, Pincus SM |title=Estrogen and testosterone, but not a nonaromatizable androgen, direct network integration of the hypothalamo-somatotrope (growth hormone)-insulin-like growth factor I axis in the human: evidence from pubertal pathophysiology and sex-steroid hormone replacement |journal=J. Clin. Endocrinol. Metab. |volume=82 |issue=10 |pages=3414–20 |year=1997 |pmid=9329378 |doi=10.1210/jcem.82.10.4317 |url=}}</ref>
**[[Growth spurt]] occurred in the middle to late stages of [[puberty]].
**Most of the times, it occurs by the time of [[thelarche]] stage 3.
**It is consist of 25 cm growth in girls and 30 cm growth in boys, on average.
*'''''Anosmia/Hyposmia'''''
*'''''Anosmia/Hyposmia'''''
**Lack of [[neural tissue]] migration to [[olfactory bulbs]] in [[Central nervous system|central nervous system (CNS)]] associated with [[Kallmann syndrome]].
**[[Kallmann syndrome]] is associated with lack of [[neural tissue]] migration to [[olfactory bulbs]] in [[Central nervous system|central nervous system (CNS)]].
**[[Kallmann syndrome]] is also consisting 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>
**[[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===
Less common symptoms of delayed [[puberty]] include the symptoms related to its underlying [[diseases]]:
Less common symptoms of delayed [[puberty]] are the symptoms related to its underlying [[diseases]], include:
*'''''Turner's syndrome'''''<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>
*'''''Turner's syndrome'''''
**[[Short stature]]
**[[Short stature]]
**[[Webbed neck]]
**[[Webbed neck]]
**Low posterior hairline
**Low posterior hairline
**Prominent posterior rotated [[ears]]
**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'''''<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>
*'''''Klinefelter syndrome'''''
**Tall stature  
**Tall stature  
**Greater [[lower limbs]] proportion
**Greater [[lower limbs]] proportion
**[[Atrophic]] [[testes|testis]]
**[[Atrophic]] [[testes|testis]]
**[[Developmental delay]]
**[[Developmental delay]]
**[[Gynecomastia]]
**[[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'''''<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>
*'''''Prader-Willi syndrome'''''
**[[Hypotonia]]
**[[Hypotonia]]
**[[Hyperphagia]]  
**[[Hyperphagia]]  
**[[Obesity]]
**[[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>


* '''''CHARGE syndrome'''''<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>
* '''''CHARGE syndrome'''''
** [[Coloboma]]
** [[Coloboma]]
** Heart defects (especially, [[tetralogy of Fallot]])
** [[Heart defects]] (especially, [[tetralogy of Fallot]])
**[[Choanal atresia|Atresia of the choanae]]  
**[[Choanal atresia|Atresia of the choanae]]  
**Retardation of [[growth]] and development  
**Retardation of [[growth]] and development  
**[[Genital]] underdevelopment  
**[[Genital]] underdevelopment  
**[[Ear]] abnormalities
**[[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>
*'''''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]]
**[[Visual impairment]]
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==References==
==References==
{{reflist|2}}
{{reflist|2}}
​
{{WS}}
{{WH}}


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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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