A case of primary amenorrhea with 46+XY genotype from Kashmir Valley
A 19-year-old female student residing in central urban district of Kashmir was referred to our genetic counseling center by the local Gynecologist. The patient had been diagnosed with failure to reach menarche and PA. Her height was 5.8 ft and weight 54 kg. Secondary sexual characters of the patients were also under developed, with breast buds instead of well-developed ones. Interview with the patient revealed the female gentile organs. Furthermore, patient was a product of consanguineous marriage – both parents were paternally related []. The patient was the first among four children arisen from the marriage and only one to survive the gestation period prior to three consecutive abortions. The facial features of the patient were similar to those of male individuals with high rise brows, prominent fore head and jaw line. The patient was advised to undergo regular ultrasonographic (USG) examination. USG of the patient revealed the complete absence of the uterus and small atretic ovaries []. It also revealed mullarian agenesis. The hormonal profile of the patient revealed the lower levels of follicle-stimulating hormone (15.15 mIU/ml), but elevated levels of luteinizing hormone and prolactin 33.71 mIU/ml and 5.6 mIU/ml respectively. Later on estradiol of the patient was found to be <12.5 ng/ml, which is in the same range as in menopausal adult. Our genetic counselors diagnosed the patient with possible turner syndrome clinically and advised cytogenetic analysis.\nWe carried out the cytogenetic evaluation of the patient for the karyotyping to detect the possible chromosomal abnormality. Cytogenetic analysis was carried out for patient as well as parents using blood as the source of chromosomes. Whole blood was cultured in 5 ml of Roswell Park Memorial Institute 1640 medium with 10% fetal calf serum. Lymphocytes were stimulated by adding phytohemagglutinin. Cultures were incubated at 37°C for 48-72 h. The cell proliferation was arrested by colchine/colcemid, slides were prepared after hypotonic treatment and fixation with Carnoy's fixative. G-banding was done with trypsin and metaphase plates were scored and karyotyped using an image analysis system. The chromosomal evaluation revealed the female to possess only one X chromosome instead if two and the presence of one Y chromosome. Thus, genotype of the patient was a confirmed male one [Figures and ].