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 | 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|SD]] more than the average age of [[puberty]] onset in standard population, 14 for boys and 13 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 | *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|SD]] more than the average age of [[puberty]] onset in standard population, 14 for boys and 13 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:<ref name="PalmertDunkel2012" /> | ||
| Line 15: | Line 15: | ||
* [[Mumps]] | * [[Mumps]] | ||
* [[Cryptorchidism]] | * [[Cryptorchidism]] | ||
* Testicular [[trauma]] | * [[Testicular]] [[trauma]] | ||
* [[Testicular torsion]] | * [[Testicular torsion]] | ||
* [[Sickle cell disease]] | * [[Sickle cell disease]] | ||
| Line 31: | Line 31: | ||
*[[Coxsackie virus]] | *[[Coxsackie virus]] | ||
*[[Galactosemia]] | *[[Galactosemia]] | ||
*Autoimmune oophoritis | *Autoimmune [[oophoritis]] | ||
*Autoimmune [[orchitis]] | *Autoimmune [[orchitis]] | ||
*[[5-alpha reductase deficiency]] | *[[5-alpha reductase deficiency]] | ||
| Line 50: | Line 50: | ||
*[[Craniopharyngioma]] | *[[Craniopharyngioma]] | ||
*[[Prolactinoma]] | *[[Prolactinoma]] | ||
*Post [[central nervous system]] infection | *Post [[central nervous system]] [[infection]] | ||
*Congenital [[hypopituitarism]] | *Congenital [[hypopituitarism]] | ||
*[[Chemotherapy]] | *[[Chemotherapy]] | ||
| Line 64: | Line 64: | ||
===Common Symptoms=== | ===Common Symptoms=== | ||
Common symptoms of delayed [[puberty]] are | Common symptoms of delayed [[puberty]] are: | ||
*'''''Lack of testicular enlargement''''' | *'''''Lack of testicular enlargement''''' | ||
**[[Testes]] volume less than 3 mL. | **[[Testes]] volume less than 3 mL. | ||
**[[Testicular]] size | **[[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 | **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) | **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''''' | *'''''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''''' | *'''''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> | **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]]. | **[[Growth spurt]] occurred in the middle to late stages of [[puberty]]. | ||
**Most of the times, it occurs by the time of [[thelarche]] stage 3. | **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. | **It is consist of 25 cm growth in girls and 30 cm growth in boys, on average. | ||
*'''''Anosmia/Hyposmia''''' | *'''''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 | **[[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]] | Less common symptoms of delayed [[puberty]] are the symptoms related to its underlying [[diseases]], include: | ||
*'''''Turner's syndrome''''' | *'''''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''''' | |||
**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''''' | |||
**[[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''''' | * '''''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]] | ||
Revision as of 14:14, 18 October 2017
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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 SD more than the average age of puberty onset in standard population, 14 for boys and 13 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 SD more than the average age of puberty onset in standard population, 14 for boys and 13 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:[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
 |
 |
 |
- 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 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.[5]
- Lack of breast development
- 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
- Lack of growth spurt
- By the time of puberty onset, there is a surge in growth hormone (GH) secretion. Sex steroids also have some roles in increasing the growth rate in puberty.[7]
- 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.[8]
- 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 (CNS).
- Kallmann syndrome is a cause of hypogonadotropic hypogonadism.[9]
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[10]
- Klinefelter syndrome
- Tall stature
- Greater lower limbs proportion
- Atrophic testis
- Developmental delay
- Gynecomastia[11]
- 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[13]
- Septo-optic dysplasia[14]
- 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 (1970). "Variations in the pattern of pubertal changes in boys". Arch Dis Child. 45 (239): 13–23. PMC 2020414. PMID 5440182.
- ↑ Marshall WA, Tanner JM (1969). "Variations in pattern of pubertal changes in girls". Arch Dis Child. 44 (235): 291–303. PMC 2020314. PMID 5785179.
- ↑ 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.
- ↑ 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.
- ↑ 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".