Puberty is the process of physical maturation manifested by an increase in growth rate and the appearance of secondary sexual characteristics. Precocious puberty is typically defined as the appearance of any sign of secondary sexual maturation in boys younger than 9 years, in white girls younger than 7 years, and in black girls younger than 6 years.
Testotoxicosis is also named : Precocious puberty, male limited; Sexual precocity, familial, gonadotropin-independent; Pubertas Praecox; Familial Testotoxicosis (subtype).
Precocious puberty can be divided into 2 distinct categories. The first category is gonadotropin-dependent precocious puberty, which involves the premature activation of the hypothalamic-pituitary-gonadal (HPG) axis. The second category is gonadotropin-independent precocious puberty, in which the presence of sex steroids is independent of pituitary gonadotropin release. source: eMedicine
Symptoms characteristic of Testotoxicosis include the following:
- Premature male puberty
- Reduced adult stature
- Premature voice deepening
- Premature armpit hair growth
- Tall for age child
The cause of Testotoxicosis is premature release of testosterone into the body. This release is due most prominately to genetic defects in the testicles, adrenal glands, or pituitary gland but may also include a tumor in the adrenal or pituitary gland that secretes estrogen or testosterone, McCune-Albright Syndrome, and exposure to external estrogen or testosterone sources, such as creams or ointments.In boys, precocious puberty may also be caused by a tumor in the cells which make sperm, or the Leydig cells which make testosterone. Also, early production of testosterone in boys may be the result of a defective gene, which is a rare disorder in itself.
Routine diagnostic studies include a CBC, sedimentation rate, urinalysis, chemistry panel, VDRL test, rapid ACTH test, serum testosterone, dihydrotestosterone, dehydroepiandrosterone, and a flat plate of the abdomen . If a brain tumor is suspected, a CT scan of the brain may be done. If an adrenal tumor is suspected, a CT scan of the abdomen and pelvis may be performed. Pelvic ultrasound or a CT scan of the pelvis may identify an ovarian tumor. Ultrasound may help evaluate a testicular mass. It is best to consult an endocrinologist, urologist, or gynecologist before ordering these expensive diagnostic tests.
A favorable outcome is measured by:
- A reduction or normalization in the rate of growth. This allows bones to grow in a normal fashion without leading to sealing the epiphyseal discs or growth plates at the ends of the long bones due to precocious puberty. Overall it allows the patient to achieve a normal height with normal bone density.
- A decrease in the presence of endocrinopathies diseases such as Cushing's disease, thyrotoxicosis, acromegaly, hyperprolactinemia, ovarian cysts, and hyperparathyroidism.
- A decrease in other related diseases and symptoms such as bone cysts, pancreatitis, abnormal cardiac muscle cells and gastro intestinal polyps.
Although all of the symptoms are not likely to be completely controlled, they may be minimized through agressive, early treatment.
Antifungal treatments such as Nizoral, or generically known as ketoconazole, are not a usual treatment for testotoxicosis but can be an effective one. Ketoconazole works by inhibiting the synthesis of sex steroids.
Treatment with an antimineralocorticoid such as spironolactone (Aldactone) can be used to compete for aldosterone receptors. This class of drugs also inhibits production of sex steroids, and are usually used in conjunction with another class of medications known as aromatase inhibitors.
Aromatase inhibitors reduce the amount of hormone. Teslac (testolactone) is a medication of this class.
Gonadotropin-releasing hormone analogs or GnRH analogs is also used. One medication that belongs to this class is Synarel (nafarelin) which is administered as a nasal spray. These medications are also used in adjunct with other medications such as aromatase inhibitors in order to inhibit the onset of true central puberty.