Delayed puberty history and symptoms: Difference between revisions

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Revision as of 21:16, 18 October 2017

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, 14years for boys and 13years 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

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, 14years for boys and 13years 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. ^[1]

History

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

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
Congenital lipoid adrenal hyperplasia
Androgen insensitivity
Sertoli cell only syndrome (Del Castillo syndrome)
Astrocytoma
Germinoma

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:

Lack of breast development
- The first sign of puberty in girls is thelarche (breast development).^[5]
Lack of pubic and axillary hair
- Pubic and axillary hair, body odor, and also acne are results of adrenal androgens.
- 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 (CNS).
- Kallmann syndrome is a cause of hypogonadotropic hypogonadism.^[6]

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^[7]
Klinefelter syndrome
- Tall stature
- Greater lower limbs proportion
- Atrophic testis
- Developmental delay
- Gynecomastia^[8]
Prader-Willi syndrome

CHARGE syndrome
- Coloboma
- Heart defects (especially, tetralogy of Fallot)
- Atresia of the choanae
- Retardation of growth and development
- Genital underdevelopment
- Ear abnormalities^[10]
Septo-optic dysplasia^[11]
- Visual impairment
- Nystagmus
- Recurrent seizures (epilepsy)
- Abnormal movements

References

↑ ^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.
↑ http://smithperiod6.wikispaces.com/Klinefelter's+Syndrome [CC BY-SA 3.0 (http://creativecommons.org/licenses/by-sa/3.0) or Attribution]
↑ 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)]
↑ By Kim D Blake, Chitra Prasad [CC BY 2.0 (http://creativecommons.org/licenses/by/2.0)]
↑ Marshall WA, Tanner JM (1969). "Variations in pattern of pubertal changes in girls". Arch Dis Child. 44 (235): 291–303. PMC 2020314. PMID 5785179.
↑ Rugarli EI, Ballabio A (1993). "Kallmann syndrome. From genetics to neurobiology". JAMA. 270 (22): 2713–6. PMID 8133589.
↑ Simpson JL, Rajkovic A (1999). "Ovarian differentiation and gonadal failure". Am. J. Med. Genet. 89 (4): 186–200. PMID 10727994.
↑ Smyth CM, Bremner WJ (1998). "Klinefelter syndrome". Arch. Intern. Med. 158 (12): 1309–14. PMID 9645824.
↑ 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.
↑ "CHARGE syndrome - Genetics Home Reference".
↑ "septo-optic dysplasia - Genetics Home Reference".

Template:WS Template:WH

[PalmertDunkel2012-1] 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] ttp://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)]

[pmid5785179-5] Marshall WA, Tanner JM (1969). "Variations in pattern of pubertal changes in girls". Arch Dis Child. 44 (235): 291–303. PMC 2020314. PMID 5785179.

[pmid8133589-6] Rugarli EI, Ballabio A (1993). "Kallmann syndrome. From genetics to neurobiology". JAMA. 270 (22): 2713–6. PMID 8133589.

[pmid10727994-7] Simpson JL, Rajkovic A (1999). "Ovarian differentiation and gonadal failure". Am. J. Med. Genet. 89 (4): 186–200. PMID 10727994.

[pmid9645824-8] Smyth CM, Bremner WJ (1998). "Klinefelter syndrome". Arch. Intern. Med. 158 (12): 1309–14. PMID 9645824.

[pmid22237428-9] 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.

[urlCHARGE_syndrome_-_Genetics_Home_Reference-10] "CHARGE syndrome - Genetics Home Reference".

[urlsepto-optic_dysplasia_-_Genetics_Home_Reference-11] "septo-optic dysplasia - Genetics Home Reference".

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@@ Line 65: / Line 65: @@
 ===Common Symptoms===
 Common symptoms of delayed [[puberty]] are:
-*'''''Lack of testicular enlargement'''''
-**[[Testes]] volume less than 3 mL.
-**[[Testicular]] size is determined 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 demonstrates the onset of [[puberty]].<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'''''
 **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>
@@ Line 77: / Line 73: @@
 **The best identifier of [[puberty]] onset in girls is [[menarche]].
 **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>
-**[[Growth]] rate is increased during [[puberty]]; because the [[estrogen]], either from the ovary or from [[aromatization]] of [[testosterone]], increases the [[GH]] response in the body.<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'''''
 **[[Kallmann syndrome]] is associated with lack of [[neural tissue]] migration to [[olfactory bulbs]] in [[Central nervous system|central nervous system (CNS)]].