primary amenorrhea ( pa ) is defined by the absence of attainment of menarche by the age of 16 - 18 years . we report the 46+xy genotype case of pa with tall thin stature coupled with male dominant facial features . a 19-year - old female student residing in central urban district of kashmir was referred to our genetic counseling center by the local gynecologist . secondary sexual characters of the patients were also under developed , with breast buds instead of well - developed ones . furthermore , patient was a product of consanguineous marriage  both parents were paternally related [ figure 1 ] . 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 . usg of the patient revealed the complete absence of the uterus and small atretic ovaries [ figure 2 ] . 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 . uterus is not visible we 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 . cultures were incubated at 37c 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 3 and 4 ] . proband stained and labeled metaphase spread of the patient karyogram of the patient showing 46 , xy genotype pa has been defined as the clinical condition identified by the complete absence of menstrual cycles in women . this disease manifests due to several different causes , which include endocrine imbalance , gonadal anomalies , genetic disorders coupled with the environmental factors . number of studies carried out to identify the cause of this disease have implicated chromosomal aberrations in about 50% of the cases . however , in india vijayalakshmi et al . reported the 27.8% of the pa patient to contain abnormal karyotype . a similar study by anupam et al . consanguinity has been reported to be the primary reason resulting in the homozygous condition for recessive autosomal / deleterious genes . the incidence of consanguinity reported in india is 5 - 60% and uncle - niece and first cousin are the more commonly occurring relationships in indian population . in a study by amudha et al . , consanguinity was seen in 427 cases ( 29.14% ) out of total 1465 patients with suspected genetic etiology , 305 cases were confirmed to have chromosomal abnormalities , among them 240 ( 78.7% ) had numerical abnormality and 65 ( 21.3% ) had a structural abnormality . our case finding was in accordance with the reported ones from india as well as from singapore . , at the time of counseling a counselor should kept in mind , that consanguinity may have a higher risk than the general population risk on chromosomal abnormality . keeping this thing in mind cytogenetic investigations should be made readily available for patients with genetic anomalies who have the history of consanguinity . these are essential in pa cases to detect sex chromosomal abnormalities , undetected mosaicism and multiple chromosome aberrations , which help in appropriate genetic counseling and management of the disease .
primary amenorrhea is one of the common reproductive disorder affecting females . 
 it leads to the absence of menarche in the reproductive age group in females and/or complete absence of reproductive organs . 
 there are many causes which lead to pa , including genetic aberrations which are the leading factors .