Sex Determination
Findings
Analysis to determine the sex of our case study AFA was done using a physical exam karyotyping and PCR-based sex testing.
The results from our physical exams on AFA showed well-developed female external genitalia, presence of breasts, no menstrual cycle, and no facial or chest hair. This led to a conclusion that AFA is a sterile female.
The results from the Karyotype Analysis showed presence of 22 pairs of autosomes chromosomes and two X’s revealing that she is female.
Lastly the PCR-based sex testing that we carried out showed presence of SRY (Sex Determining Region on the Y chromosome) which is necessary for male development but there was also absence of DYZ1 and since DYZ1 is a gene found in multiples copies only on the Y chromosome its absence led to conclusion that AFA is female.
In conclusion, it is likely that AFA suffers from a condition called Androgen Insensitivity Syndrome, where a person has physical characteristics of a woman but whose genetic make up includes a male ‘Y’ chromosomes.
Recommendations
I propose that our case AFA should be reinstated her gold medal. This is because although she might prove to have an advantage over the other females because of the presence of the male chromosomes, she did not cheat. It’s really unfortunate that some such people could be born with unfortunate medical conditions like Androgen Insensitivity Syndrome (AIS). However, the IAAF World Championships should avoid a repeat of such occurrences in future mainly to avoid public humiliation of the athletes by ensuring that a compulsory, standard and regular chromosomal testing is done before the day of the
Analysis to determine the sex of our case study AFA was done using a physical exam karyotyping and PCR-based sex testing.
The results from our physical exams on AFA showed well-developed female external genitalia, presence of breasts, no menstrual cycle, and no facial or chest hair. This led to a conclusion that AFA is a sterile female.
The results from the Karyotype Analysis showed presence of 22 pairs of autosomes chromosomes and two X’s revealing that she is female.
Lastly the PCR-based sex testing that we carried out showed presence of SRY (Sex Determining Region on the Y chromosome) which is necessary for male development but there was also absence of DYZ1 and since DYZ1 is a gene found in multiples copies only on the Y chromosome its absence led to conclusion that AFA is female.
In conclusion, it is likely that AFA suffers from a condition called Androgen Insensitivity Syndrome, where a person has physical characteristics of a woman but whose genetic make up includes a male ‘Y’ chromosomes.
Recommendations
I propose that our case AFA should be reinstated her gold medal. This is because although she might prove to have an advantage over the other females because of the presence of the male chromosomes, she did not cheat. It’s really unfortunate that some such people could be born with unfortunate medical conditions like Androgen Insensitivity Syndrome (AIS). However, the IAAF World Championships should avoid a repeat of such occurrences in future mainly to avoid public humiliation of the athletes by ensuring that a compulsory, standard and regular chromosomal testing is done before the day of the