Skip to
  1. Homepage
  2. Rare diseases
  3. Search
Simple search

Simple search

*
(*) mandatory field





 

Other search option(s)

Testotoxicosis

Orpha number ORPHA3000
Synonym(s) Familial gonadotropin-independent male-limited sexual precocity
Male limited precocious puberty
Prevalence 1-9 / 1 000 000
Inheritance
  • Autosomal dominant
Age of onset Childhood
ICD-10
  • E30.1
OMIM
UMLS
  • C0342549
  • C1504412
MeSH
  • C536961
MedDRA
  • 10063654
  • 10063656
SNOMED CT
  • 237818003

Summary

Familial, gonadotropin-independent, male-limited sexual precocity is a rare affection leading to precocious signs of puberty in boys (between 2 and 5 years of age). Patients display increased testosterone secretion but decreased secretion of gonadotropins, even after stimulation with luteinizing hormone-releasing hormone (LHRH). The condition may be sporadic or transmitted as a dominant trait; its expression is limited to males. The diagnosis excludes the other causes of precocious puberty with low levels of gonadotropins (adrenal tumors, testicular Leydig cell tumors, adrenal enzymatic blocks, human chorionic gonadotropin (HCG)-secreting tumors, occult intake of androgens). The diagnosis is confirmed by the discovery of a specific mutation activating the LH receptor. Treatment consists of reducing hyperandrogenism in children (sexual maturation, stature), with ketoconazole or a combination of spironolactone/aromatase inhibitors.

Expert reviewer(s)

  • Pr Jean-Claude CAREL
Last update: February 2005

(*) Required fields.

Attention: Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.


Captcha image
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.