Congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Article Abstract:

Congenital deficiency in the enzyme 21-hydroxylase results in adrenal hyperplasia and a syndrome that causes excessive masculinization. The condition, which occurs in about 1 in 14,000 births, is treated with supplements of steroid hormones. However, while the success of the treatment is impressive for some patients it is unsatisfactory in many, and improvements are needed. In a detailed review, the authors describe the physiological basis for congenital adrenal hyperplasia and the pharmacologic effects of current treatments, along with a proposal for a potentially more effective treatment protocol. The enzyme 21-hydroxylase is responsible for the manufacture of precursors of the steroid hormones aldosterone and cortisol; therefore, these hormones are deficient in patients with adrenal hyperplasia. Since aldosterone is responsible for the regulation of sodium retention by the kidney, the more severely affected patients may undergo a salt-losing crisis. In some families, a fatal salt-losing crisis in an infant is the first indication that defective genes are present in the parents. Since the production of aldosterone and cortisol are deficient, the steroid that would normally have been used in their production is used in pathways leading to the masculine hormones androstenedione and testosterone. This accounts for the masculinizing influence that has a greater clinical significance for girls, some of whom are thought to be boys at birth due to the development of a penile urethra. Unfortunately, therapeutic supplementation of the lacking hormones does not restore full balance among the various steroid hormones, which are under the influence of ACTH. Children experience rapid skeletal growth, which actually results in decreased adult stature, since the increased skeletal growth causes precocious puberty and a premature reduction in the rate of growth. The supplementation of steroid hormones is insufficient to normalize the hormonal balance among these patients. The authors suggest that it may be possible to normalize growth by adding to the treatment enzyme inhibitors that suppress the influence of the hormones that are in excess in the treated patients. (Consumer Summary produced by Reliance Medical Information, Inc.)

Causes of, Hydroxylases, Steroid hormones, Adrenogenital syndrome, Congenital adrenal hyperplasia, Adrenal gland diseases

---

Treatment of familial male precocious puberty with spironolactone and testolactone

Article Abstract:

Familial male precocious puberty causes the early onset of puberty in boys as young as two years of age and results in an accelerated rate of bone growth and maturation, and short adult stature. Researchers hypothesized that blocking male androgen hormones which play an important role in pubertal development with an anti-androgen drug, spironolactone, would reverse the effects of familial male precocious puberty. Four boys who were treated with spironolactone continued to show accelerated bone growth and developed gynecomastia. It was then decided to administer testolactone which inhibits an enzyme active in the conversion of androgens to estrogens because continued estrogen synthesis might have been responsible for the outcomes of spironolactone therapy. The effectiveness of the combined therapy was confirmed by rates of bone growth and maturation being returned to normal prepubertal levels. Gynecomastia also regressed. These findings were repeated in a second clinical trial of five boys who were given testolactone and then the combined therapy. It was concluded that blocking both androgen action and estrogen synthesis with this combination therapy is an effective short-term treatment for familial male precocious puberty. Spironolactone and testolactone have a long history of clinical use and no known toxic effects. Their effectiveness in long-term therapy requires more clinical study.

Health aspects, Analysis, Case studies, Evaluation, Antineoplastic agents, Growth disorders, Gonadotropin, Gonadotropins, Puberty, Hormone antagonists, Spironolactone

---

A novel testis-stimulating factor in familial male precocious puberty

Article Abstract:

Familial male precocious puberty affects only males, and is characterized by early development of the sex organs. The disease is inherited, and is not related to the secretion of gonadotropin, a sex hormone. The disease is transmitted in the sex chromosomes and is a dominant trait, meaning that it is expressed even if it is carried on only one of the two chromosomes. Rapid growth and development of secondary sexual characteristics occur by the age of three. The genetic cause of familial male precocious puberty is unknown. Blood plasma was collected from 12 boys with familial male precocious puberty, 7 normal prepubertal boys, and 1 with hypogonadotropic hypogonadism (inhibited secretion of gonadotropin by the testes). This was then injected into the testicles of cynomolgus monkeys that had been pretreated with gonadotropin-releasing-hormone antagonist to inhibit the monkeys' natural secretion of hormones. Testosterone levels were then measured. The peak testosterone response was significantly greater in monkeys treated with blood from the 12 boys with familial male precocious puberty than in those receiving blood from the normal prepubertal boys. It would appear that there is a circulating testis-stimulating factor in boys with familial male precocious puberty. Such a factor explains the biological nature of the disorder. (Consumer Summary produced by Reliance Medical Information, Inc.)

Genetic aspects, Testis-determining factor, Precocious puberty

Similar abstracts:

• Abstracts: Resistance to diet-induced hypercholesterolemia and gallstone formation in ACAT2-deficient mice. Turning WAT intp BAT gets rid of fat
• Abstracts: California dreaming. The splashiest room in the house. Decorating guru
• Abstracts: Improving practice with the Liverpool Care Pathway. Reducing antibiotic use in the fight against MRSA. Psychosocial rehabilitation after burn injuries
• Abstracts: It's time nurses had more say in plans to tackle the MRSA crisis
• Abstracts: Contrast material-induced renal failure in patients with diabetes mellitus, renal insufficiency, or both. Contrast nephrotoxicity: a randomized controlled trial of a nonionic and an ionic radiographic contrast agent

This website is not affiliated with document authors or copyright owners. This page is provided for informational purposes only. Unintentional errors are possible.