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{{Infobox disease
{{Infobox medical condition (new)
| Name = Familial male-limited precocious puberty
| name = Familial male-limited precocious puberty
| Image =
| synonyms = Familial sexual precocity
| Caption =
| image = Autosomal dominant - en.svg
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| caption = Male-limited precocious puberty has an autosomal dominant pattern of [[inheritance]]. However, only males are affected; females with the mutant gene are not affected.
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| DiseasesDB =
| ICD10 =
| pronounce =
| ICD9 =
| field =
| ICDO =
| symptoms =
| OMIM = 176410
| complications =
| MedlinePlus =
| onset =
| duration =
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| eMedicineSubj =
| types =
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| eMedicineTopic =
| MeshID =
| causes =
| risks =
| diagnosis =
| differential =
| prevention =
| treatment =
| medication =
| prognosis =
| frequency =
| deaths =
}}
}}


'''Familial male-limited precocious puberty''', often abbreviated as '''FMPP''', also known as '''familial sexual precocity''' or '''gonadotropin-independent testotoxicosis''',<ref name=omim>{{OMIM|176410}}</ref> is a form of [[gonadotropin]]-independent [[precocious puberty]] in which boys experience early onset and progression of [[puberty]].<ref>{{cite journal | author=Traggiai C, Stanhope R | title=Disorders of pubertal development | journal=Best Pract Res Clin Obstet Gynaecol | year=2003 | pages=41–56 | volume=17 | issue=1 | pmid=12758225 | doi=10.1053/ybeog.2003.0360}}</ref> Signs of puberty can develop as early as an age of 1 year.
'''Familial male-limited precocious puberty''', often abbreviated as '''FMPP''', also known as '''familial sexual precocity''' or '''gonadotropin-independent testotoxicosis''',<ref name=omim>{{OMIM|176410}}</ref> is a form of [[gonadotropin]]-independent [[precocious puberty]] in which boys experience early onset and progression of [[puberty]].<ref>{{cite journal |vauthors=Traggiai C, Stanhope R | title=Disorders of pubertal development | journal=Best Pract Res Clin Obstet Gynaecol | year=2003 | pages=41–56 | volume=17 | issue=1 | pmid=12758225 | doi=10.1053/ybeog.2003.0360}}</ref> Signs of puberty can develop as early as an age of 1 year.{{cn|date=September 2021}}


The spinal length in boys may be short due to a rapid advance in epiphyseal maturation. It is an [[autosomal dominant]]<ref name=omim/> condition with a [[mutation]] of the [[luteinizing hormone receptor|luteinizing hormone (LH) receptor]]. Treatment is with drugs that suppress gonadal [[steroidogenesis]], such as [[cyproterone acetate]], [[ketoconazole]], [[spironolactone]], and [[testolactone]].<ref>{{cite journal | author=Reiter EO, Norjavaara E | title=Testotoxicosis: current viewpoint | journal=Pediatr Endocrinol Rev | year=2005 | pages=77–86 | volume=3 | issue=2 | pmid=16361981}}</ref> Alternatively, the combination of the [[androgen receptor]] [[receptor antagonist|antagonist]] [[bicalutamide]] and the [[aromatase inhibitor]] [[anastrozole]] may be used.<ref name="KreherPescovitz2006">{{cite journal | vauthors = Kreher NC, Pescovitz OH, Delameter P, Tiulpakov A, Hochberg Z | title = Treatment of familial male-limited precocious puberty with bicalutamide and anastrozole | journal = The Journal of Pediatrics | volume = 149 | issue = 3 | pages = 416–20 | date = Sep 2006 | pmid = 16939760 | doi = 10.1016/j.jpeds.2006.04.027 }}</ref>
The spinal length in boys may be short due to a rapid advance in epiphyseal maturation. It is an [[autosomal dominant]]<ref name=omim/> condition with a [[mutation]] of the [[luteinizing hormone receptor|luteinizing hormone (LH) receptor]]. As FMPP is a gonadotropin-independent form of precocious puberty, [[gonadotropin-releasing hormone agonist]]s (GnRH agonists) are ineffective. Treatment is with drugs that suppress or block the effects of gonadal [[steroidogenesis]], such as [[cyproterone acetate]], [[ketoconazole]], [[spironolactone]], and [[testolactone]].<ref>{{cite journal |vauthors=Reiter EO, Norjavaara E | title=Testotoxicosis: current viewpoint | journal=Pediatr Endocrinol Rev | year=2005 | pages=77–86 | volume=3 | issue=2 | pmid=16361981}}</ref> Alternatively, the combination of the [[androgen receptor]] [[receptor antagonist|antagonist]] [[bicalutamide]] and the [[aromatase inhibitor]] [[anastrozole]] may be used.<ref name="KreherPescovitz2006">{{cite journal | vauthors = Kreher NC, Pescovitz OH, Delameter P, Tiulpakov A, Hochberg Z | title = Treatment of familial male-limited precocious puberty with bicalutamide and anastrozole | journal = The Journal of Pediatrics | volume = 149 | issue = 3 | pages = 416–20 | date = Sep 2006 | pmid = 16939760 | doi = 10.1016/j.jpeds.2006.04.027 }}</ref>


[[Robert King Stone]], personal physician to American president [[Abraham Lincoln]], described the first case of FMPP in 1852.<ref>{{Cite journal |last=Tao |first=Ya-Xiong |date=November 2008 |title=Constitutive activation of G protein-coupled receptors and diseases: Insights into mechanisms of activation and therapeutics |journal=[[Pharmacology & Therapeutics]] |language=en |publisher=[[Elsevier]] |volume=120 |issue=2 |pages=129–148 |doi=10.1016/j.pharmthera.2008.07.005|pmid=18768149 |pmc=2668812 }}</ref>
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[[Image:Autosomal dominant - en.svg|thumb|right|Male-limited precocious puberty has an autosomal dominant pattern of [[inheritance]].]]


==See also==
==See also==
⚫
* [[Hypergonadism]], [[hyperandrogenism]], and [[precocious puberty]]
⚫
* [[Leydig cell hypoplasia]] (or LH insensitivity)
* [[Follicle-stimulating hormone insensitivity]]
* [[Follicle-stimulating hormone insensitivity]]
* [[Gonadotropin-releasing hormone insensitivity]]
* [[Gonadotropin-releasing hormone insensitivity]]
⚫
* [[Hypergonadism]], [[hyperandrogenism]], and [[precocious puberty]]
* [[Inborn errors of steroid metabolism]]
* [[Inborn errors of steroid metabolism]]
⚫
* [[Leydig cell hypoplasia]] (or LH insensitivity)


==References==
==References==
{{reflist}}
{{reflist}}


==External links==
== External links ==
*{{RareDiseases|4475|Testotoxicosis}}
* {{RareDiseases|4475|Testotoxicosis}}
{{Medical resources

⚫
| DiseasesDB =
{{Endocrine pathology}}
| ICD10 = E30.1
| ICD9 =
| ICDO =
| OMIM = 176410
| MedlinePlus =
⚫
| eMedicineSubj =
⚫
| eMedicineTopic =
| MeshID = C536961
| Orphanet = 3000
}}
{{Gonadal disorder}}
{{Receptor deficiencies}}
{{Receptor deficiencies}}

[[Category:Autosomal dominant disorders]]
[[Category:Autosomal dominant disorders]]
[[Category:Congenital disorders]]
[[Category:Congenital disorders]]
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[[Category:Rare diseases]]
[[Category:Rare diseases]]
[[Category:Cell surface receptor deficiencies]]
[[Category:Cell surface receptor deficiencies]]


{{genetic-disorder-stub}}
{{genetic-disorder-stub}}

Latest revision as of 03:08, 16 October 2024

Familial male-limited precocious puberty
Other namesFamilial sexual precocity
Male-limited precocious puberty has an autosomal dominant pattern of inheritance. However, only males are affected; females with the mutant gene are not affected.

Familial male-limited precocious puberty, often abbreviated as FMPP, also known as familial sexual precocity or gonadotropin-independent testotoxicosis,[1] is a form of gonadotropin-independent precocious puberty in which boys experience early onset and progression of puberty.[2] Signs of puberty can develop as early as an age of 1 year.[citation needed]

The spinal length in boys may be short due to a rapid advance in epiphyseal maturation. It is an autosomal dominant[1] condition with a mutation of the luteinizing hormone (LH) receptor. As FMPP is a gonadotropin-independent form of precocious puberty, gonadotropin-releasing hormone agonists (GnRH agonists) are ineffective. Treatment is with drugs that suppress or block the effects of gonadal steroidogenesis, such as cyproterone acetate, ketoconazole, spironolactone, and testolactone.[3] Alternatively, the combination of the androgen receptor antagonist bicalutamide and the aromatase inhibitor anastrozole may be used.[4]

Robert King Stone, personal physician to American president Abraham Lincoln, described the first case of FMPP in 1852.[5]

See also

[edit]

References

[edit]
  1. ^ a b Online Mendelian Inheritance in Man (OMIM): 176410
  2. ^ Traggiai C, Stanhope R (2003). "Disorders of pubertal development". Best Pract Res Clin Obstet Gynaecol. 17 (1): 41–56. doi:10.1053/ybeog.2003.0360. PMID 12758225.
  3. ^ Reiter EO, Norjavaara E (2005). "Testotoxicosis: current viewpoint". Pediatr Endocrinol Rev. 3 (2): 77–86. PMID 16361981.
  4. ^ Kreher NC, Pescovitz OH, Delameter P, Tiulpakov A, Hochberg Z (Sep 2006). "Treatment of familial male-limited precocious puberty with bicalutamide and anastrozole". The Journal of Pediatrics. 149 (3): 416–20. doi:10.1016/j.jpeds.2006.04.027. PMID 16939760.
  5. ^ Tao, Ya-Xiong (November 2008). "Constitutive activation of G protein-coupled receptors and diseases: Insights into mechanisms of activation and therapeutics". Pharmacology & Therapeutics. 120 (2). Elsevier: 129–148. doi:10.1016/j.pharmthera.2008.07.005. PMC 2668812. PMID 18768149.
[edit]
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