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Genetic and Rare Diseases Information Center (GARD)

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Other Names for this Disease
  • Familial Testotoxicosis (subtype)
  • Precocious puberty, male limited
  • Pubertas Praecox
  • Sexual precocity, familial, gonadotropin-independent
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Testotoxicosis is a form of gonadotropin-independent precocious puberty in which boys experience early onset and progression of puberty. The disease generally presents between 2 and 4 years of age. Patients have accelerated growth, early development of secondary sexual characteristics and reduced adult height. Testotoxicosis is caused by an activating mutation of the luteinizing hormone receptor (LHCGR) gene, which leads to increased levels of sex steroids in the context of low luteinizing hormone. The condition may be sporadic or transmitted as a dominant trait. It is only expressed in males.[1][2][3][4] Treatment consists of reducing hyperandrogenism in children (sexual maturation, stature), with ketoconazole or a combination of antiandrogens and aromatase inhibitors.[4]
Last updated: 2/29/2012


  1. Reiter EO, Norjavaara E.. Testotoxicosis: current viewpoint. Pediatr Endocrinol Rev. 2005; Accessed 2/29/2012.
  2. Brito VN, Latronico AC, Arnhold IJ, Mendonca BB. Update on the etiology, diagnosis and therapeutic management of sexual precocity. Arq Bras Endocrinol Metabol. 2008; Accessed 2/29/2012.
  3. Ferry RJ, Fenton CL, Poth MPM. Precocious Pseudopuberty. eMedicine. 2009; Accessed 2/29/2012.
  4. Carel JC. Testotoxicosis. Orphanet. 2005; Accessed 2/29/2012.
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