Mullerian Agenesis vs Androgen Insensitivity Syndrome – Symptoms, Causes, Differences woman

This article reveals the differences between Mullerian agenesis vs androgen insensitivity syndrome:

Mullerian Agenesis

Mullerian agenesis, also known as vaginal agenesis, Mullerian aplasia, Mayer-Rokitansky-Küster-Hauser (MRKH), or Mullerian duct anomalies, refers to a condition which affects females where a uterus will not be present and the Mullerian ducts fail to develop.

Affected women commonly do not have menstrual periods due to the absent uterus. It occurs in 1 out of every 4,500 females.

Symptoms

Common symptoms include:

  • possibly only one kidney;
  • scoliosis and other vertebral anomalies;
  • recurrent urinary tract infections;
  • problems urinating;
  • painful intercourse;
  • infertility (though not everyone with MRKH is infertile);
  • cyclic abdominal pain;
  • menstruating never starts (primary amenorrhoea).

Complications

Many women with the syndrome have:

  • increased levels of psychological distress;
  • cardiac congenital anomalies;
  • renal problems.

Causes

The syndrome occurs due to the amalgamation of a number of environmental factors. Also, the condition appears to have an autosomal dominant pattern of inheritance.

Diagnosis

The diagnosis is made either laparoscopically or radiologically in people in whom karyotypic and hormonal investigations for primary amenorrhea (the absence of menstrual periods) are normal.

Treatment

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The syndrome can be managed non-surgically with successive vaginal dilation. If surgery is required to create a neo-vagina (a surgically crafted vagina), post-operative dilation therapy is important to help prevent skin graft contracture.

In some cases, surgical correction may facilitate a normal sexual function.

Gene therapy might also provide an effective approach to solving this syndrome.

Androgen Insensitivity Syndrome (AIS)

It refers to an inability of the human body to respond correctly to male sex hormones that are produced during pregnancy.

An infant born with the syndrome is genetically male, however, the external appearance of his genitals may be female or somewhere between female and male. For instance, people with the syndrome are born as chromosomal males, meaning that they are genetically male, with the feminization of their sexual organs and infertility problems.

This syndrome only occurs in males, nevertheless, females are the carriers of the genetic defect. There are 2 main types of the syndrome, that affect patients in different ways:

Partial Androgen Insensitivity (PAIS)

It results when the body’s tissues are partially sensitive to the effects of androgens. Symptoms of PAIS include:

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  • development of female pelvis;
  • the genitalia are between male and female from birth;
  • small prostate;
  • an enlarged clitoris or a very small penis;
  • sparse beard;
  • partially undescended testicles;
  • the voice may have a high pitch;
  • hypospadias – where the hole which transports urine out of the body is on the underside of the penis;
  • impotence (later in life);
  • impaired production of male hormones;
  • very little or no sperm in the semen;
  • gynecomastia (increase in the size of male breast tissue);
  • partial fusion of the labia;
  • bifid scrotum (separation of the two halves of the scrotum).

Complete Androgen Insensitivity Syndrome

It occurs when the human body cannot use androgens at all.

People with CAIS have all the normal characteristics of females, however, they have very little pubic hair.

Complications

Depending on the extent of androgen receptor dysfunction, complications include:

  • azoospermia (a condition of a man whose semen contains no sperm);
  • gynecomastia;
  • lack of virilization;
  • vagina;
  • urogenital sinus;
  • penoscrotal hypospadias;
  • micropenis (less than 2.8 inches long when erect);
  • cryptorchidism.

Note – due to hormonal imbalances, some patients may develop osteoporosis.

Causes

It is caused by an alteration in the gene which produces androgen receptors. Women who carry the genetic fault won’t have the syndrome, but there is:

  • 1 in 4 chance of having a child with the syndrome;
  • 1 in 4 chance of having a girl who does not carry the altered gene and is unaffected;
  • 1 in 4 chance of having a normal boy;
  • 1 in 4 chance of having a girl who is unaffected, however, she can pass on the altered gene to her children.

According to the data, there is no correlation between the syndrome and paternal or maternal age.

Diagnosis

The diagnosis for the syndrome is based on:

  • physical examination;
  • personal medical history;
  • pelvic ultrasound (a noninvasive diagnostic exam which produces images) to confirm the absence of internal female reproductive organs;
  • genetic testing (a picture of a person’s chromosomes);
  • blood test – it is done to check hormone levels.

Treatment

Treatment for AIS involves:

  • hormonal replacement in the form of androgen or estrogen supplements that are usually prescribed after puberty;
  • psychological support and care to deal with the problems which arise from social interaction with other children.

Notetreatment with bisphosphonates may be required for people who have multiple fractures or diminished bone density.

Mullerian Agenesis vs Androgen Insensitivity Syndrome – Differences

Mullerian agenesis is defined as a hereditary malformation in the genital tract of the female reproductive system. In this condition, the vagina is short and intercourse may be painful and difficult. It affects at least 1 in 4500 female births. Commonly, the failure to start the menstrual cycle is the initial clinical sign of the MA. Alos, it is the 2nd most common cause of primary amenorrhea in adolescent girls.

Androgen insensitivity syndrome (AIS) is a condition which affects sexual development before birth and during puberty. Most individuals who are born with AIS are unable to have children, however, they have good overall health and are able to lead a normal life.

There are two categories of AIS:

  • partial – the human body responds partially to androgen;
  • complete – the human body does not respond to androgen at all.
References

https://www.sciencedirect.com/science/article/pii/S0015028211008454
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5368317/
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4822377/