Familial male-limited precocious puberty
|Familial male-limited precocious puberty|
|Male-limited precocious puberty has an autosomal dominant pattern of inheritance.|
|Classification and external resources|
Familial male-limited precocious puberty, often abbreviated as FMPP, also known as familial sexual precocity or gonadotropin-independent testotoxicosis, is a form of gonadotropin-independent precocious puberty in which boys experience early onset and progression of puberty. 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 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. Alternatively, the combination of the androgen receptor antagonist bicalutamide and the aromatase inhibitor anastrozole may be used.
- Hypergonadism, hyperandrogenism, and precocious puberty
- Leydig cell hypoplasia (or LH insensitivity)
- Follicle-stimulating hormone insensitivity
- Gonadotropin-releasing hormone insensitivity
- Inborn errors of steroid metabolism
- Online Mendelian Inheritance in Man (OMIM) 176410
- 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.
- Reiter EO, Norjavaara E (2005). "Testotoxicosis: current viewpoint". Pediatr Endocrinol Rev. 3 (2): 77–86. PMID 16361981.
- 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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