Article
Gonadotropin-independent precocious puberty associated with a somatic activating mutation of the LH receptor gene: detection of a mutation present in only a small fraction of cells from testicular tissue using wild-type blocking polymerase chain reaction and laser-capture microdissection.
Endocrine - 1 Jun 2009
Goji Katsumi, Teraoka Yoshie, Hosokawa Yuki, Okuno Misako, Ozaki Kayo, Yoshida Makiko, Matsuo Masafumi
Abstract excerpt
OBJECTIVE: Leydig cells are the principal source of testosterone, and boys with Leydig cell tumors typically have signs of gonadotropin-independent precocious puberty as a result of testosterone secretion by the tumor. A single somatic activating mutation of the LH receptor gene, Asp578His, limit...
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