What causes absence of uterus and ovaries?

By Vision Reporter

In his paper titled Normal Development of the Urogenital System, American scientist and researcher, Park Michaels, explains that a foetus starts to develop reproductive organs between four and fi ve weeks into a pregnancy.

By the time a baby is born, these organs ought to be fully matured. He further explains that during this development, the genes that help our bodies develop into males and females are also active.

“Women have 46 pairs of chromosomes with an XX that help in the development into ovaries, while males have 46 pairs of chromosome XY,” the researcher explains.

These chromosomes, he says, define which reproductive organs, both internal and external, the given person will have. The Y chromosome, according to the scientist, stimulates the development of the testes and halts the development of female ovaries, so such a person is automatically categorised as male.

If the Y chromosome is not responsive, the female genitals will develop automatically and the person could think he is a girl. Therefore, the absence of the Y chromosome will lead to the automatic development of the female reproductive system and genitals. 

The androgen insensitivity syndrome

Paragon Hospital’s fertility centre laboratory expert Denis Onyait says Mary’s daughter may have a genetic disorder called androgen insensitivity syndrome, commonly abbreviated as AIS.

Androgen is a male sex hormone that is produced in the testes and responsible for typical male sexual characteristics.

“A baby with androgen insensitivity syndrome is born externally looking like a girl. However, internally, there are no ovaries, fallopian tubes and uterus,” he says.

This is the same condition that is described in the teenager (Mary’s daughter).

“Androgen insensitivity syndrome is basically a condition in which the development of the genitals and reproductive organs are affected,” he further explains.

“If the body is unresponsive or insensitive to androgen, sometimes the testis will not develop or will stay inside the body, leaving the external genitals to develop along female line,” Onyait says. 

Forms of androgen insensitivity syndrome

The condition presents in two forms, the first is the complete androgen insensitivity syndrome, where the person is completely insensitive to androgen.

“In this one, the external genitals develop as female, and the babies look every bit a girl,” he explains.

The other is the partial androgen insensitivity syndrome, and with this, there is some sensitivity to androgen, though less than needed. “As a result, this baby will either look completely male or female and sometimes a bit of both,” he further says.

Sometimes, the girls with this condition have a slightly enlarged clitoris, while others have a penis, which is almost fully formed.

Risk factors and treatment

According Dr. Samuel Lwanga, a gynaecologist of Mulago Hospital, these are usually genetic issues and mostly, they are triggered if the body fails to respond as desired to a certain hormone.

“It could be genetic, for instance, if a relative in either parent’s lineage had the condition,” he explains.

Lwanga advises parents to make sure that each of their baby’s body organs are in place. This can be ascertained by a scan. He also says that sometimes these disorders are caused by exposure to substances containing male hormones during pregnancy.

“So expectant mothers should talk to their doctors and know what to stay away from, be it creams or medicine, which any qualified doctor would advise against,” he says.

“Keep in mind though, that if it is genetic and has nothing to do with what you are taking, this condition will occur,” he adds.

Signs you should not ignore
 

• Abnormal-looking genital
• Male traits
• Monthly pelvic pain and cramping, but does not menstruate
• Not started menstruation by age 16
• Sometimes, no breast development at puberty
• No pubic hair at puberty 
• Unusual lumps in the abdomen or groin

Way forward

“If someone has the disorder, she has ovaries, they could be harvested. However, if there are no ovaries, then biologically, it impossible to do anything,” Onyait says.

He adds that in the first world, some of these people ask for a change of sex all together — to men — but he advises that such people also look into adoption.

“I know it is not what they may have had in plan, but with enough preparation, the woman in question can be prepared for this,” he adds.

However, he says, before this decision is made, such a person should have done thorough check-ups, just to be sure they are alright.

According to Catherine Nalodda, a counsellor at Mulago, reproductive issues are very sensitive. “Quite often, victims of reproductive hormonal disorders find themselves battling a lot of psychological issues and bitterness, which could make some people suicidal,” she explains.

In addition to counseling, it would be good for people battling these conditions to have a support system.

“Identify anyone else diagnosed with abnormalities of the sexual and reproductive organs and just reach out to each other, that way, you do not feel like you are alone,” she says.

As they get older, Nalodda says, it would be better if they sought family counsellors to prepare them for whatever options are out there for them.

“The older they get, the more scared they become and so someone has to be present to talk to them and prepare them for the tough decisions ahead,” she adds.