Delayed puberty causes: Difference between revisions

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__NOTOC__
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{{Delayed puberty}}
{{Delayed puberty}}
{{CMG}}
{{CMG}}; {{AE}}{{EG}}
 
==Overview==
==Overview==
Delayed [[puberty]] may be caused by [[endocrine|endocrinologic]] or [[genetic]] causes. The most common [[endocrine|endocrinologic]] causes of delayed [[puberty]] are [[hypothalamus]]-[[pituitary]]-[[gonadal]] (HPG) axis disorders. The most common [[genetic]] cause of delayed [[puberty]] is [[Kallmann syndrome]]. There are various genes that may be related to delayed [[puberty]], among which the [[kisspeptin]] system genes (KISS1 and KISS1R) are the most important [[genes]].
==Causes==
==Causes==
* Variation of normal (constitutional delay)
===Life-threatening Causes===
* Prolonged high level of physical exertion / being an athlete
*Life-threatening causes include conditions which may result in death or permanent [[disability]] within 24 hours if left untreated. There are no life-threatening causes of delayed [[puberty]], however, complications resulting from untreated delayed [[puberty]] are common.
* Systemic disease, ''e.g.'' [[Inflammatory bowel disease]], [[chronic renal failure]]
===Common Causes===
* Undernutrition ''e.g.'' [[anorexia nervosa]], zinc deficiency
Delayed [[puberty]] may be caused by:<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>
* Hypothalamic defects and diseases ''e.g.'' [[Prader-Willi syndrome]],[[Kallmann syndrome]]
* [[Mumps]]
* Pituitary defects and diseases ''e.g.'' [[hypopituitarism]]
* [[Cryptorchidism]]
* Gonadal defects and diseases ''e.g.'' [[Turner syndrome]], [[Klinefelter syndrome]]
* [[Turner syndrome]]
* Absence or unresponsiveness of target organs ''e.g.'' [[androgen insensitivity syndrome]], [[mullerian agenesis]]
* Testicular [[trauma]]
* Other hormone deficiencies and imbalances ''e.g.'' [[hypothyroidism]], [[Cushing's syndrome]]
* [[Testicular torsion]]
* [[Sickle cell disease]]
* [[Thalassemia]]
* [[Kallmann syndrome]]
* [[Isolated hypogonadotropic hypogonadism]]
* Hypothalamus-pituitary-gonadal (HPG) Axis development disorder
* [[Obesity]] and [[hypogonadotropic hypogonadism]]
* [[Cystic fibrosis]]
* [[Asthma]]
* [[Inflammatory bowel disease]]
* [[Celiac disease]]
* [[Diabetes mellitus]]
* Excessive [[exercise]]
* [[Malnutrition]]
 
===Less Common Causes===
Less common causes of [[disease name]] are including:<ref name="PalmertDunkel2012" />
*[[Noonan syndrome]] and related disorders
* [[Fragile X|Fragile X premutation]]
* [[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]]
 
* [[Langerhans cell histiocytosis]]
* [[Rathke pouch]] cyst
* [[Prader-Willi syndrome]]
* [[Bardet-Biedl syndrome]]
* [[CHARGE syndrome]]
* [[Gaucher disease]]
* Post [[central nervous system]] infection
* [[Septo-optic dysplasia]]
* Congenital [[hypopituitarism]]
* [[Chemotherapy]]
* [[Radiation therapy]]
* [[Juvenile rheumatoid arthritis]]
* [[Anorexia nervosa]]
 
* [[Bulimia]]
* [[Hemosiderosis]]
* [[Chronic renal disease]]
* [[AIDS]]
* [[Hypothyroidism]]
* [[Hyperprolactinemia]]
* [[Growth hormone deficiency]]
* [[Cushing syndrome]]
 
===Genetic Causes===
Delayed puberty is caused by a mutation in the following genes:<ref name="pmid22138902">{{cite journal |vauthors=Bonomi M, Libri DV, Guizzardi F, Guarducci E, Maiolo E, Pignatti E, Asci R, Persani L |title=New understandings of the genetic basis of isolated idiopathic central hypogonadism |journal=Asian J. Androl. |volume=14 |issue=1 |pages=49–56 |year=2012 |pmid=22138902 |pmc=3735150 |doi=10.1038/aja.2011.68 |url=}}</ref>
* [[Kisspeptin|Kisspeptin system (KISS1R and KISS1)]]
* [[KAL1 gene|Kallmann syndrome 1 (KAL1)]]
* [[Fibroblast growth factor receptor 1|Fibroblast growth factor receptor 1 (FGFR1)]]
* [[Fibroblast growth factor 8|Fibroblast growth factor 8 (FGF8)]]
* [[Heparan sulfate]] 6-O-sulphotransferase 1 (HS6ST1)
* [[Prokineticin|Prokineticin 2 (PROK2)]]
* [[Prokineticin receptor 2|Prokineticin 2 receptor (PROKR2)]]
* [[Tachykinin|Tachykinin 3 (TAC3)]]
* [[Tachykinin receptor 3|Tachykinin 3 receptor (TACR3)]]
* [[Gonadotropin releasing hormone|Gonadotropin releasing hormone (GnRH1)]]
* [[Gonadotropin releasing hormone]] receptor (GnRHR)
* [[CHD7|Chromodomain helicase DNA-binding protein 7 (CHD7)]]
* Nasal embryonic LH-releasing hormone factor (NELF)
* Early B-cell factor 2 (EBF2)
* [[DAX1|DSS-AHC on the X-chromosome 1 (DAX1)]]
* [[SF1 (gene)|Steroidogenic factor 1 (SF1)]]
* [[HESX1|Homeobox gene 1 (HESX1)]]
* [[LHX3|LIM homeobox gene 3 (LHX3)]]
* [[PROP1|PROP paired-like homeobox 1 (PROP1)]]
* [[Leptin|Leptin (LEP)]]
* [[Leptin receptor|Leptin receptor (LEPR)]]
* Proprotein convrtase 1 (PC1)
* Makorin RING-finger protein 3 (MKRN3)
* [[Estrogen receptor alpha|Estrogen receptor α (ESR1)]]
 
===Causes by Organ System===
{| border="1" style="width:80%; height:100px"
| bgcolor="LightSteelBlue" style="width:25%" ; border="1" |'''Cardiovascular'''
| bgcolor="Beige" style="width:75%" ; border="1" |[[CHARGE syndrome]]
|-
| bgcolor="LightSteelBlue" |'''Chemical/Poisoning'''
| bgcolor="Beige" |No underlying causes
|-
|- bgcolor="LightSteelBlue"
|'''Dental'''
| bgcolor="Beige" |No underlying causes
|-
|- bgcolor="LightSteelBlue"
|'''Dermatologic'''
| bgcolor="Beige" |No underlying causes
|-
|- bgcolor="LightSteelBlue"
|'''Drug Side Effect'''
| bgcolor="Beige" |[[Chemotherapy]]
|-
|- bgcolor="LightSteelBlue"
|'''Ear Nose Throat'''
| bgcolor="Beige" |[[Mumps]], [[Rathke pouch]] cyst, [[CHARGE syndrome]], [[Septo-optic dysplasia]]
|-
|- bgcolor="LightSteelBlue"
|'''Endocrine'''
| bgcolor="Beige" |[[Isolated hypogonadotropic hypogonadism]], [[Hypothalamus]]-[[pituitary]]-[[gonadal]] (HPG) Axis development disorder, [[Diabetes mellitus]], [[Lipoid congenital adrenal hyperplasia|Congenital lipoid adrenal hyperplasia]], [[Androgen insensitivity]], [[Sertoli cell]] only syndrome (Del Castillo syndrome), [[Craniopharyngioma]], [[Prolactinoma]], [[Prader-Willi syndrome]], [[Bardet-Biedl syndrome]], [[CHARGE syndrome]], Congenital [[hypopituitarism]], [[Hypothyroidism]], [[Hyperprolactinemia]], [[Growth hormone deficiency]], [[Cushing syndrome]]
|-
|- bgcolor="LightSteelBlue"
|'''Environmental'''
| bgcolor="Beige" |Excessive [[exercise]], [[Chemotherapy]], [[Radiation therapy]]
|-
|- bgcolor="LightSteelBlue"
|'''Gastroenterologic'''
| bgcolor="Beige" |[[Inflammatory bowel disease]], [[Celiac disease]]
|-
|- bgcolor="LightSteelBlue"
|'''Genetic'''
| bgcolor="Beige" |[[Turner syndrome]], [[Kallmann syndrome]], [[Cystic fibrosis]], [[Noonan syndrome]], [[Fragile X|Fragile X premutation]], [[Vanishing testes syndrome]], [[Galactosemia]], [[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), [[Prader-Willi syndrome]], [[Bardet-Biedl syndrome]], [[Gaucher disease]]
|-
|- bgcolor="LightSteelBlue"
|'''Hematologic'''
| bgcolor="Beige" |[[Sickle cell disease]], [[Thalassemia]], [[Langerhans cell histiocytosis]], [[Hemosiderosis]], [[AIDS]]
|-
|- bgcolor="LightSteelBlue"
|'''Iatrogenic'''
| bgcolor="Beige" |[[Chemotherapy]], [[Radiation therapy]]
|-
|- bgcolor="LightSteelBlue"
|'''Infectious Disease'''
| bgcolor="Beige" |[[Mumps]], [[Coxsackie virus]], [[AIDS]]
|-
|- bgcolor="LightSteelBlue"
|'''Musculoskeletal/Orthopedic'''
| bgcolor="Beige" |[[Juvenile rheumatoid arthritis]]
|-
|- bgcolor="LightSteelBlue"
|'''Neurologic'''
| bgcolor="Beige" |[[Astrocytoma]], [[Glioma]], Post [[central nervous system]] infection
|-
|- bgcolor="LightSteelBlue"
|'''Nutritional/Metabolic'''
| bgcolor="Beige" |[[Malnutrition]], [[Obesity]], [[5-alpha reductase deficiency]], [[Anorexia nervosa]], [[Bulimia]]
|-
|- bgcolor="LightSteelBlue"
|'''Obstetric/Gynecologic'''
| bgcolor="Beige" |[[Hypothalamus]]-[[pituitary]]-[[gonadal]] (HPG) Axis development disorder, [[Isolated hypogonadotropic hypogonadism]]
|-
|- bgcolor="LightSteelBlue"
|'''Oncologic'''
| bgcolor="Beige" |[[Astrocytoma]], [[Germinoma]], [[Glioma]], [[Craniopharyngioma]], [[Prolactinoma]]
|-
|- bgcolor="LightSteelBlue"
|'''Ophthalmologic'''
| bgcolor="Beige" |[[Bardet-Biedl syndrome]], [[CHARGE syndrome]], [[Septo-optic dysplasia]]
|-
|- bgcolor="LightSteelBlue"
|'''Overdose/Toxicity'''
| bgcolor="Beige" |No underlying causes
|-
|- bgcolor="LightSteelBlue"
|'''Psychiatric'''
| bgcolor="Beige" |[[Anorexia nervosa]], [[Bulimia]]
|-
|- bgcolor="LightSteelBlue"
|'''Pulmonary'''
| bgcolor="Beige" |[[Asthma]], [[Cystic fibrosis]]
|-
|- bgcolor="LightSteelBlue"
|'''Renal/Electrolyte'''
| bgcolor="Beige" |[[Lipoid congenital adrenal hyperplasia|Congenital lipoid adrenal hyperplasia]], [[Chronic renal disease]]
|-
|- bgcolor="LightSteelBlue"
|'''Rheumatology/Immunology/Allergy'''
| bgcolor="Beige" |Autoimmune oophiritis, Autoimmune [[orchitis]], [[Langerhans cell histiocytosis]], [[Juvenile rheumatoid arthritis]]
|-
|- bgcolor="LightSteelBlue"
|'''Sexual'''
| bgcolor="Beige" |[[AIDS]]
|-
|- bgcolor="LightSteelBlue"
|'''Trauma'''
| bgcolor="Beige" |Testicular [[trauma]]
|-
|- bgcolor="LightSteelBlue"
|'''Urologic'''
| bgcolor="Beige" |[[Cryptorchidism]], [[Testicular torsion]], [[Gonadal dysgenesis]], [[Vanishing testes syndrome]], [[Germinoma]], [[CHARGE syndrome]]
|-
|- bgcolor="LightSteelBlue"
|'''Miscellaneous'''
| bgcolor="Beige" |Excessive [[exercise]]
|-
|}
===Causes in Alphabetical Order===
List the causes of the disease in alphabetical order.{{columns-list|
* [[5-alpha reductase deficiency]]
* 17,20-[[lyase]] deficiency
* [[AIDS]]
* [[Androgen insensitivity]]
* [[Anorexia nervosa]]
* [[Asthma]]
* [[Astrocytoma]]
* Autoimmune oophiritis
* Autoimmune [[orchitis]]
* [[Bardet-Biedl syndrome]]
* [[Bulimia]]
* [[Celiac disease]]
* [[CHARGE syndrome]]
* [[Chemotherapy]]
* [[CHD7|Chromodomain helicase DNA-binding protein 7 (CHD7)]]
* [[Chronic renal disease]]
* Congenital [[hypopituitarism]]
* [[Lipoid congenital adrenal hyperplasia|Congenital lipoid adrenal hyperplasia]]
* [[Coxsackie virus]]
* [[Craniopharyngioma]]
* [[Cryptorchidism]]
* [[Cushing syndrome]]
* [[Cystic fibrosis]]
* [[Diabetes mellitus]]
* [[DAX1|DSS-AHC on the X-chromosome 1 (DAX1)]]
* Early B-cell factor 2 (EBF2)
* [[Estrogen receptor alpha|Estrogen receptor α (ESR1)]]
* Excessive [[exercise]]
* [[Fibroblast growth factor 8|Fibroblast growth factor 8 (FGF8)]]
* [[Fibroblast growth factor receptor 1|Fibroblast growth factor receptor 1 (FGFR1)]]
* [[Fragile X|Fragile X premutation]]
* [[Galactosemia]]
* [[Gaucher disease]]
* [[Germinoma]]
* [[Glioma]]
* [[Gonadal dysgenesis]]
* [[Gonadotropin releasing hormone|Gonadotropin releasing hormone (GnRH1)]]
* [[Gonadotropin releasing hormone]] receptor (GnRHR)
* [[Growth hormone deficiency]]
* [[Hemosiderosis]]
* [[Heparan sulfate]] 6-O-sulphotransferase 1 (HS6ST1)
* [[HESX1|Homeobox gene 1 (HESX1)]]
* [[Hyperprolactinemia]]
* Hypothalamus-pituitary-gonadal (HPG) Axis development disorder
* [[Hypothyroidism]]
* [[Inflammatory bowel disease]]
* [[Isolated hypogonadotropic hypogonadism]]
* [[Juvenile rheumatoid arthritis]]
* [[Kallmann syndrome]]
* [[KAL1 gene|Kallmann syndrome 1 (KAL1) gene]]
* [[Kisspeptin|Kisspeptin system (KISS1R and KISS1)]]
* [[Langerhans cell histiocytosis]]
* [[Leptin|Leptin (LEP)]]
* [[Leptin receptor|Leptin receptor (LEPR)]]
* [[LHX3|LIM homeobox gene 3 (LHX3)]]
* Makorin RING-finger protein 3 (MKRN3)
* [[Malnutrition]]
* [[Mumps]]
* Nasal embryonic LH-releasing hormone factor (NELF)
* [[Noonan syndrome]] and related disorders
* [[Obesity]] and [[hypogonadotropic hypogonadism]]
* Post [[central nervous system]] infection
* [[Prader-Willi syndrome]]
* [[Prokineticin|Prokineticin 2 (PROK2)]]
* [[Prokineticin receptor 2|Prokineticin 2 receptor (PROKR2)]]
* [[Prolactinoma]]
* Proprotein convrtase 1 (PC1)
* [[PROP1|PROP paired-like homeobox 1 (PROP1)]]
* [[Radiation therapy]]
* [[Rathke pouch]] cyst
* [[Septo-optic dysplasia]]
* [[Sertoli cell]] only syndrome (Del Castillo syndrome)
* [[Sickle cell disease]]
* [[SF1 (gene)|Steroidogenic factor 1 (SF1)]]
* [[Tachykinin|Tachykinin 3 (TAC3)]]
* [[Tachykinin receptor 3|Tachykinin 3 receptor (TACR3)]]
* [[Testicular torsion]]
* Testicular [[trauma]]
* [[Thalassemia]]
* [[Turner syndrome]]
* [[Vanishing testes syndrome]]
}}


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


​
{{WS}}
{{WH}}
{{WH}}
{{WS}}


[[Category:Disease]]
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[[Category:Endocrinology]]
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[[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

Delayed puberty may be caused by endocrinologic or genetic causes. The most common endocrinologic causes of delayed puberty are hypothalamus-pituitary-gonadal (HPG) axis disorders. The most common genetic cause of delayed puberty is Kallmann syndrome. There are various genes that may be related to delayed puberty, among which the kisspeptin system genes (KISS1 and KISS1R) are the most important genes.

Causes

Life-threatening Causes

  • Life-threatening causes include conditions which may result in death or permanent disability within 24 hours if left untreated. There are no life-threatening causes of delayed puberty, however, complications resulting from untreated delayed puberty are common.

Common Causes

Delayed puberty may be caused by:[1]

Less Common Causes

Less common causes of disease name are including:[1]

Genetic Causes

Delayed puberty is caused by a mutation in the following genes:[2]

Causes by Organ System

Cardiovascular CHARGE syndrome
Chemical/Poisoning No underlying causes
Dental No underlying causes
Dermatologic No underlying causes
Drug Side Effect Chemotherapy
Ear Nose Throat Mumps, Rathke pouch cyst, CHARGE syndrome, Septo-optic dysplasia
Endocrine Isolated hypogonadotropic hypogonadism, Hypothalamus-pituitary-gonadal (HPG) Axis development disorder, Diabetes mellitus, Congenital lipoid adrenal hyperplasia, Androgen insensitivity, Sertoli cell only syndrome (Del Castillo syndrome), Craniopharyngioma, Prolactinoma, Prader-Willi syndrome, Bardet-Biedl syndrome, CHARGE syndrome, Congenital hypopituitarism, Hypothyroidism, Hyperprolactinemia, Growth hormone deficiency, Cushing syndrome
Environmental Excessive exercise, Chemotherapy, Radiation therapy
Gastroenterologic Inflammatory bowel disease, Celiac disease
Genetic Turner syndrome, Kallmann syndrome, Cystic fibrosis, Noonan syndrome, Fragile X premutation, Vanishing testes syndrome, Galactosemia, 5-alpha reductase deficiency, 17,20-lyase deficiency, Congenital lipoid adrenal hyperplasia, Androgen insensitivity, Sertoli cell only syndrome (Del Castillo syndrome), Prader-Willi syndrome, Bardet-Biedl syndrome, Gaucher disease
Hematologic Sickle cell disease, Thalassemia, Langerhans cell histiocytosis, Hemosiderosis, AIDS
Iatrogenic Chemotherapy, Radiation therapy
Infectious Disease Mumps, Coxsackie virus, AIDS
Musculoskeletal/Orthopedic Juvenile rheumatoid arthritis
Neurologic Astrocytoma, Glioma, Post central nervous system infection
Nutritional/Metabolic Malnutrition, Obesity, 5-alpha reductase deficiency, Anorexia nervosa, Bulimia
Obstetric/Gynecologic Hypothalamus-pituitary-gonadal (HPG) Axis development disorder, Isolated hypogonadotropic hypogonadism
Oncologic Astrocytoma, Germinoma, Glioma, Craniopharyngioma, Prolactinoma
Ophthalmologic Bardet-Biedl syndrome, CHARGE syndrome, Septo-optic dysplasia
Overdose/Toxicity No underlying causes
Psychiatric Anorexia nervosa, Bulimia
Pulmonary Asthma, Cystic fibrosis
Renal/Electrolyte Congenital lipoid adrenal hyperplasia, Chronic renal disease
Rheumatology/Immunology/Allergy Autoimmune oophiritis, Autoimmune orchitis, Langerhans cell histiocytosis, Juvenile rheumatoid arthritis
Sexual AIDS
Trauma Testicular trauma
Urologic Cryptorchidism, Testicular torsion, Gonadal dysgenesis, Vanishing testes syndrome, Germinoma, CHARGE syndrome
Miscellaneous Excessive exercise

Causes in Alphabetical Order

List the causes of the disease in alphabetical order.

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. ↑ Bonomi M, Libri DV, Guizzardi F, Guarducci E, Maiolo E, Pignatti E, Asci R, Persani L (2012). "New understandings of the genetic basis of isolated idiopathic central hypogonadism". Asian J. Androl. 14 (1): 49–56. doi:10.1038/aja.2011.68. PMC 3735150. PMID 22138902.

​ Template:WS Template:WH

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