Familial male-limited precocious puberty

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Familial male-limited precocious puberty
Autosomal dominant - en.svg
Male-limited precocious puberty has an autosomal dominant pattern of inheritance.
Classification and external resources
ICD-10 E30.1
OMIM 176410
MeSH C536961
Orphanet 3000

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.

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. Treatment is with drugs that suppress 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]


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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. PMID 12758225. doi:10.1053/ybeog.2003.0360. 
  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. PMID 16939760. doi:10.1016/j.jpeds.2006.04.027. 

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