Testotoxicosis

Common Name(s)

Testotoxicosis, Gonadotropin-independent familial sexual precocity

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. Treatment consists of reducing hyperandrogenism in children (sexual maturation, stature), with ketoconazole or a combination of antiandrogens and aromatase inhibitors.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Testotoxicosis" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Testotoxicosis" returned 4 free, full-text research articles on human participants. First 3 results:

Bicalutamide and third-generation aromatase inhibitors in testotoxicosis.
 

Author(s): Anne M Lenz, Dorothy Shulman, Erica A Eugster, Samar Rahhal, John S Fuqua, Ora H Pescovitz, Katherine A Lewis

Journal: Pediatrics. 2010 Sep;126(3):e728-33.

 

Testotoxicosis, a form of gonadotropin-independent precocious puberty, results from an activating mutation of the luteinizing hormone receptor expressed in testicular Leydig cells. Affected males experience early testosterone secretion, virilization, advancing bone age, and resultant ...

Last Updated: 2 Sep 2010

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Severe testotoxicosis phenotype associated with Asp578-->Tyr mutation of the lutrophin/choriogonadotrophin receptor gene.
 

Author(s): J Müller, B Gondos, S Kosugi, T Mori, A Shenker

Journal: J. Med. Genet.. 1998 Apr;35(4):340-1.

 

Testotoxicosis is a form of male precocious puberty caused by heterogeneous activating mutations in the gene for the lutrophin/choriogonadotrophin receptor (LHR). A patient with an unusually early and severe presentation of testotoxicosis, including profound Leydig cell hyperplasia, ...

Last Updated: 30 Jun 1998

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Identification of constitutively activating mutation of the luteinising hormone receptor in a family with male limited gonadotrophin independent precocious puberty (testotoxicosis).
 

Author(s): N Kawate, G B Kletter, B E Wilson, M L Netzloff, K M Menon

Journal: J. Med. Genet.. 1995 Jul;32(7):553-4.

 

A family of male limited gonadotrophin independent precocious puberty was examined for activating mutation of the LH receptor. A transition of A to G in nucleotide 1733 of the human LH receptor gene was identified in all affected males and in an unaffected carrier female. The mutation ...

Last Updated: 22 Nov 1995

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Reviews from the PubMed Database

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The terms "Testotoxicosis" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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