Familial male-limited precocious puberty

Definition:

Familial male-limited precocious puberty, also known as familial testotoxicosis is a form of isosexual precocious puberty in boys in which testosterone levels are elevated independent of changes in luteinizing hormone-releasing hormone and serum luteinizing hormone levels. Activating mutations in the human luteinizing hormone receptor (hLHR) have been described.

References:

[1]. G Liu, et al. Leydig-cell tumors caused by an activating mutation of the gene encoding the luteinizing hormone receptor. N Engl J Med. 1999 Dec 2;341(23):1731-6. [Content Brief]

[2]. L Laue, et al. Genetic heterogeneity of constitutively activating mutations of the human luteinizing hormone receptor in familial male-limited precocious puberty. Proc Natl Acad Sci U S A. 1995 Mar 14;92(6):1906-10. [Content Brief]

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