Testotoxicosis
=Testotoxicosis =
Testotoxicosis, also known as familial male-limited precocious puberty, is a rare genetic disorder characterized by early onset of puberty in males. This condition is caused by mutations in the LHCGR gene, which leads to the activation of the luteinizing hormone receptor independent of luteinizing hormone (LH) stimulation.
Clinical Features[edit | edit source]
Individuals with testotoxicosis typically present with signs of puberty at an unusually early age, often between 2 and 4 years old. Common clinical features include:
- Accelerated growth and bone maturation
- Development of secondary sexual characteristics such as pubic hair and increased muscle mass
- Enlargement of the testes and penis
- Behavioral changes such as increased aggression
Pathophysiology[edit | edit source]
The condition is caused by activating mutations in the LHCGR gene, which encodes the luteinizing hormone/choriogonadotropin receptor. These mutations lead to constitutive activation of the receptor, resulting in increased production of testosterone by the testes, independent of LH stimulation. This causes the early onset of puberty in affected males.
Diagnosis[edit | edit source]
Diagnosis of testotoxicosis is based on clinical presentation, family history, and genetic testing to identify mutations in the LHCGR gene. Hormonal evaluations typically show elevated testosterone levels with low or normal LH levels.
Treatment[edit | edit source]
Management of testotoxicosis aims to delay further pubertal development and reduce the impact on growth and psychosocial development. Treatment options include:
- GnRH analogs to suppress gonadotropin release
- Anti-androgens to block the effects of testosterone
- Aromatase inhibitors to prevent the conversion of testosterone to estrogen
Prognosis[edit | edit source]
With appropriate treatment, individuals with testotoxicosis can achieve normal adult height and have normal reproductive function. However, early diagnosis and intervention are crucial to prevent complications associated with early puberty.
See Also[edit | edit source]
NIH genetic and rare disease info[edit source]
Testotoxicosis is a rare disease.
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