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Adrenogenital syndrome

What is Adrenogenital Syndrome?

Adrenogenital Syndrome is actually the congenital adrenal hyperplasia and it refers to a group of inherited disorders of the adrenal gland. Congenital adrenal hyperplasia causes the excessive production of adrenal androgens which trigger some body changes including masculinization, virilization and hermaphrodism. It could create a lot of problems for women health.

Medically speaking the Adrenogenital Syndrome is a deficiency of specific enzyme called 21-hydroxylase.

Medical statistics shows that 21-hydroxylase deficiency presents in 1 in 10000-18000 births and accounts for 90% of cases of congenital adrenal hyperplasia.

Adrenogenital Syndrome causes

Adrenogenital syndrome may be inherited (genetic) or developed because of adrenal tumor.

Most Adrenogential Syndromes are inherited (autosomal recessive).

In principle the congenital adrenal hyperplasia can affect both boys and girls but it is more often discovered in girls. Females with congenital adrenal hyperplasia lack the enzyme called 21-hydroxylase which is responsible for production of two hormones cortisol and aldosterone. Without active 21-hydroxylase, the female body produces more androgens (male hormones). And increased levels of androgens are responsible for all symptoms – masculinization, virilization and hermaphrodism.

Adrenogenital syndrome

Adrenogenital syndrome

Adrenogenital Syndrome symptoms

Girls who suffer from Adrenogenital Syndrome in most cases could be tall as children but significantly shorter than normal as adults. They usually have normal female reproductive organs (ovaries, uterus and Fallopian tubes). Main symptoms of the disease include the following:

  • Amenorrhea (absence of periods) or irregular rare periods;
  • Changed voice (deep voice);
  • Pre-puberty or puberty early appearance of pubic and armpit hairs;
  • Excessive body and face hair growth (hirsutism);
  • Abnormal genitals that look both male and female (could even look more male than female).

Adrenogenital Syndrome diagnosis

Diagnosis of the Adrenogenital Syndrome is usually based on body observation, specific hormonal and genetic tests.

Body observation of the female with Adrenogenital syndrome will discover masculinization – excessive hairs grow on body and face (male type), changed body shape and abnormal genitals (ambiguous external genitalia suggest hermaphroditism).

Hormonal tests would discover the following:

  • Increased levels of 17-OH progesterone;
  • Increased levels of serum DHEA sulfate;
  • Increased levels of urinary 17-ketosteroids;
  • Dcreased levels of aldosterone and cortisol;
  • Normal or low urinary 17-hydroxycorticosteroids.

Genetic tests can help diagnose and confirm Adrenogenbital Syndrome. Usually the chromosomal studies are needed to confirm the diagnosis.

Additionally the X-ray could be done for bone age identification. During Adrenogenital Syndrome the X-ray shows older bones than normal for the person’s age.

Adrenogenital Syndrome treatment

First of all, after birth doctors should observe baby properly and determine the gender of a baby with ambiguous genitalia by checking the chromosomes (karyotyping). Girls with male-looking genitals will usually have surgery between ages 1 month – 3 months to correct the abnormal appearance.

Later the main treatment for Adrenogenital Syndrome will be hormonal compensation and hormonal replacement therapy – the main goal of treatment is to return hormone levels to normal. In mot cases the treatment includes daily administration of cortisone or hydrocortisone which could return androgen production to normal levels. Initially, the oral hydrocortisone dosage starts at 25 to 30 mg/m²/day. Then, the dosage is reduced to 10-20 mg/m²/day.

Infants with Adrenigenital Syndome usually receive injections of cortisone or hydrocortisone until age 18 months and after that children could take drugs orally. Correct treatment in childhood should ensure normal levels of hormones, normal development and normal growth.

If plastic surgery on genitals was not done before puberty, it can be done later.

Adrenogenital Syndrome prognosis

  • Women with Adrenogenital Syndrome usually have good health but they could be shorter than normal, even with treatment.
  • Girls with Adrenogenital Syndrome usually have amenorrhea (absence of periods) or rare irregular periods which could be a cause of infertility.
  • Abnormal female external genitals during Adrenogenital syndrome should be operated in childhood. Without plastic surgery it could create a lot of psychological and social problems.
  • Women with Adrenogenital Syndrome (even treated and/or operated) could have a smaller opening of the vagina.
  • Women with Adrenogenital Syndrome must take medication their entire lives.
  • Untreated Adrenogenital Syndrome could cause adrenal crisis and can lead to death within 1 – 6 weeks after birth.
  • Clients with Adrenogenital Syndrome could have high blood pressure (sometimes difficult to treat).
  • Prenatal diagnosis could be done for some forms of congenital adrenal hyperplasia during first trimester of pregnancy by chorionic villus sampling. Late diagnosis of the disease could be done during second trimester of pregnancy by measuring hormones such as 17-hydroxyprogesterone in the amniotic fluid.
  • A newborn screening test is available for the most common form of congenital adrenal hyperplasia. It can be done on heelstick blood (as part of the routine screenings done on newborns). This test is currently performed in many countries.

 


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