SWYER’s Syndrome:
About:
- Swyer’s Syndrome, also called XY gonadal dysgenesis, is a rare disorder, occurring in one in 30,000 to 80,000 births. A female has 46,XX chromosome and a male has 46,XY chromosome. A person with this syndrome has 46,XY chromosome and is thus male, but has female characteristics such as female voice, fully or incompletely formed external genitalia, a vagina, under-developed breasts, fallopian tubes and a uterus; but no ovaries.
- The disorder originates when SRY gene, which triggers formation of male organs through XY chromosomes, mutates during the foetal stage. As a result, testosterone is not produced and the testes is not fully formed. The testes is thus only a ‘streak gonad’, incapable of reproduction.
Why difficulty in identifying the disorder:
- A woman born with XY gonadal dysgenesis does not know she is genetically a man till she reaches puberty and does not menstruate. But that’s only if doctors diagnose the condition. Unlike in the UK, for example, where Haynes learnt of her condition at the age of 19, women in India are not aware of it till they get married and fail to conceive. Doctors do not consider the possibility of XY chromosomes as the patient has female organs externally. They think the organs are just not fully formed and presence of a uterus, vagina and fallopian tube makes them believe the person is biologically female.
- “When patients complain of not menstruating, doctors give them oestrogen and progesterone tablets that thicken the uterus walls and artificially induce menstruation.
- Another problem with diagnosing the disorder, says Rao, is the variation in the symptoms. “There are several variations. Sometimes the person may not have lower one-third of their vagina in which case we have to artificially create it. In other instances, the upper portion may not be formed entirely. There are very few characteristics that help in diagnosing the patients. The only factor persistent in all patients of Swyer’s syndrome is the absence of ovaries,” she says.
- The condition is diagnosed with karyotyping, a laboratory technique use to map chromosomes. In Urvashi’s case, no expert told her about karyotyping till she consulted Jindal. “A person with gonadal dysgenesis is infertile, but can enjoy a normal sexual life because of the presence of a vagina and other external genitalia.
How they give birth?
- Recent techniques have helped those with Swyer’s Syndrome, in which a woman is genetically male but has female characteristics, give birth. A Meerut woman just became India’s first such known case
gyanabhivyakti 