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==Overview==
==Overview==
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 in 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]] are including the symptoms related to its underlying [[diseases]].


==History and Symptoms==
==History and Symptoms==
*The hallmark of delayed [[puberty]] is lack of [[testicular]] enlargement in boys or [[breast]] development in girls in 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>
===History===
Patients with delayed puberty may have a positive history of:<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 oophiritis
*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]]
*[[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 including:
*'''''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>
**[[Testes]] volume less than 3 mL.
**[[Testicular]] size can be concluded by measuring its volume using Prader [[orchidometer]] or measuring its longest axis length.
**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'''''
**[[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
**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 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'''''
**Lack of [[neural tissue]] migration to [[olfactory bulbs]] in [[Central nervous system|central nervous system (CNS)]] associated with [[Kallmann syndrome]].
**[[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>
===Less Common Symptoms===
Less common symptoms of delayed [[puberty]] are including the symptoms related to its underlying [[diseases]]:
*'''''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>
**[[Short stature]]
**[[Webbed neck]]
**Low posterior hairline
**Prominent posterior rotated [[ears]]
*'''''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>
**Tall stature
**Greater [[lower limbs]] proportion
**[[Atrophic]] [[testes]]
**[[Developmental delay]]
**[[Gynecomastia]]
*'''''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>
**[[Hypotonia]]
**[[Hyperphagia]]
**[[Obesity]]
* '''''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>
**[[Coloboma]]
**Heart defects (especially, [[tetralogy of Fallot]])
**[[Choanal atresia|Atresia of the choanae]]
**Retardation of [[growth]] and development
**[[Genital]] underdevelopment
**[[Ear]] abnormalities
*'''''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>
**[[Optic nerve hypoplasia]] ([[visual impairment]])
**[[Nystagmus]]
**Recurrent [[seizures]] ([[epilepsy]])
**Abnormal movements


==References==
==References==

Revision as of 17:54, 7 September 2017

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

Overview

The hallmark of delayed puberty is lack of testicular enlargement in boys or breast development in girls in specific stage of life. The age, in which secondary sexual characteristics are checked, is 2-2.5 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 are including the symptoms related to its underlying diseases.

History and Symptoms

History

Patients with delayed puberty may have a positive history of:[1]

Common Symptoms

Common symptoms of delayed puberty are including:

Less Common Symptoms

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

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. ↑ Marshall WA, Tanner JM (1970). "Variations in the pattern of pubertal changes in boys". Arch Dis Child. 45 (239): 13–23. PMC 2020414. PMID 5440182.
  3. ↑ Marshall WA, Tanner JM (1969). "Variations in pattern of pubertal changes in girls". Arch Dis Child. 44 (235): 291–303. PMC 2020314. PMID 5785179.
  4. ↑ Martha PM, Rogol AD, Veldhuis JD, Kerrigan JR, Goodman DW, Blizzard RM (1989). "Alterations in the pulsatile properties of circulating growth hormone concentrations during puberty in boys". J. Clin. Endocrinol. Metab. 69 (3): 563–70. doi:10.1210/jcem-69-3-563. PMID 2760171.
  5. ↑ Veldhuis JD, Metzger DL, Martha PM, Mauras N, Kerrigan JR, Keenan B, Rogol AD, Pincus SM (1997). "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". J. Clin. Endocrinol. Metab. 82 (10): 3414–20. doi:10.1210/jcem.82.10.4317. PMID 9329378.
  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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