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Androgen Insensitivity syndrome – Causes and Symptoms of Androgen Insensitivity syndrome

Androgen Insensitivity syndrome complete is a genetic syndrome that makes XY fetuses insensitive to androgen’s and they are born externally like girls but there is a short pouch like vagina and absence of uterus, fallopian tubules or ovaries. Those suffering from this syndrome have testis in the abdomen or the inguinal canal. Cases of complete androgen insensitivity occurs very rarely. It is usually detected at puberty when a girl does not menstruate and these girls have no pubic or axillary hair.

Causes of Androgen insensitivity syndrome

Androgen insensitivity syndrome is caused by errors or mutations in the androgen receptor. In some cases it may happen by chance. The causes include:

Possible causes in genetic females

  • Congenital adrenal hyperplasia: This is the most common cause of disorders of sex development. In this genetic disorder, the adrenal glands make excess of hormones(androgen’s). Thus, this is one of the main cause of Androgen insensitivity syndrome.
  • Tumors: In very rare cases, a tumor in the fetus or mother can cause this disorder.
  • Prenatal exposure to substances with male hormone activity: Some drugs like progesterone when taken during early pregnancy can cause the developing female genitals become masculine.

Possible causes in genetic males

  • Impaired testicle development: This is caused due to genetic abnormalities or some unknown causes.
  • Congenital adrenal hyperplasia: Certain genetic conditions can reduce the production of male hormone.
  • Prenatal exposure to substances with female hormone: I f a woman takes birth control pills during pregnancy, the fetus developing inside gets exposed to the female hormone estrogen.
  • 5-alpha-reductase deficiency: This is a type of enzyme defect that decreases the normal male hormone secretion.

Symptoms of Androgen insensitivity syndrome

The signs and symptoms include:

  • Very tall
  • Lack of periods
  • Primary amenorrhea
  • Female external genitals appear normal
  • Normal female voice
  • Short internal vagina
  • Sparse axillary and pubic hair
  • Undescended testis in male
  • Existence of male and female genitals
  • Uterus is absent
  • Fallopian tubes and ovaries are not present in a female
  • Female infertility
  • Presence of female genital organs in male
  • Presence of male genital organs in female

When to consult your physician?

If your baby is born with Androgen insensitivity syndrome, your doctor may diagnose this disorder and advise you for the required treatment and may determine the underlying cause for this disorder.

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