Personal experience

Local Citizen

A young adolescent girl came to a specialist clinic in Hospital, University Science Malaysia (HUSM) to get through a medical check-up after realizing she did not undergo any puberty sign such menstruation and breast enlargement at the age of 18 years old. “After physical examination had been deported, they found Yan has appearance, skin, and altitude, as typical normal women and her shape looks tough.” (Dewan Masyarakat, 2013). 

As stated more in the article, the author stated that the doctor found out that Yan does not undergo menstrual cycle and she does not have pubic hair at her private part. But what is shock despite all the strange occurrence that occurred to Yan, she still possess a normal female genitals and vagina. The doctor also found out that Yan has a small uterus, but she did hot have ovaries.

The short extract was taken from Dewan Masyarakat Magazine has shown a personal experience of a young woman with Swyer syndrome also called as XY gonadal dsygenesis. After being diagnosed by a doctor they found that she has one X chromosome and one Y chromosome, which is the pure of normal male karyotype gene (46 XY). She possesses very low pregnancy possibilities in term of her future life but she may be able to pregnant with a donated egg or embryo. She was very taken aback and could not take the diagnosis at first and decided not to marry because of the negative opinion about herself and the fact that she can’t hold a baby like other normal adult female. Subsequently, a few consultations and financial backing from her family physician and she sets off to take over her destiny.

A Second case was reported, a 27-years old, single, Chinese female presented with primary amenorrhea in 2005. A physical examination revealed a phenotypic female with typical physical body height 166.5. She possessed a normal female external genital, but the blood examination revealed that she had a low level of estrogen. Her testosterone level was in the normal range for females while a karyotype study revealed that she had 46, XY chromosome with the SRY gene! which confirmed the diagnosis of Swyer syndrome. Initially the patient was shocked and could not take the diagnosis, but after few consultations and reassurance, she was able to take it. 

Abroad Case

There is a case in India which is reported in the Medical Journal Armed Force India (MJAFI) which stated that a 17 years old girls was brought to the hospital and her parent claim that she is suffering a primary amenorrhoea. “She did not give any history of physical abdominal pain, hormonal intake, radiation exposure, chemotherapy or any central nervous symptoms such as headache or visual disturbances” (MJAFI,2009).

Based on normal medical check-up by the doctor, she have a normal physical development for a women which measured 159 cm tall and weighed 54 kilogram. On the second examination, the doctor found out that her breast is poorly developed and has a small size. Other than that, the doctor discovered that her axillaries (underarm) hair was thinly dispersed or scattered. As further examination take place, the doctor learned that her vagina was poorly developed and the cervix tissue was tiny. Other than that, they found out this woman have pure XY gene which refer to male chromosome.

Later, this patient undergo several medical procedure such as anesthesia, bilateral genodectomy, and Hormone Replacement Therapy (HRT). After six month of this procedure, this patient shows marginal improvement such as absence of menstruation.