All males do not have 46 xy karyotype: A rare case report
A 26-year-old male presented with bilateral gynecomastia for last 6 years with poor development of secondary sexual characters. He was fourth of the siblings and born out of nonconsanguineous marriage with male external genitalia.\nOn examination height was 161 cm, arm spam = 164 cm, upper segment/lower segment (US/LS) ratio = 1.06, weight = 60 kg, midparental height (MPH) =172 cm with a body mass index (BMI) of 23.14 kg/m2, stretch penile length (SPL) = 6 cm, testicular volume (TV) = 2 ml bilaterally, firm in consistency and with Tanner stage IV public hairs, sparse axillary, facial hairs, and gynecomastia.\nOn investigation liver and renal function test were within normal limits. Gonadotrophins (luteinizing hormone (LH) and follicle stimulating hormone (FSH)) value were elevated with low serum testosterone, normal estradiol and thyroid hormones, and ultrasonography (USG) did not reveal any Mullerian derivatives but had small size testis. Semen analysis showed azoospermia and testicular biopsy revealed seminiferous tubules without spermatogenic activity []. Chromosomal analysis of peripheral blood using 72 h stimulated culture with GTG banding revealed 46 XX pattern. Fluorescent in situ hybridization (FISH) by multicolor DNA probe kit (CEP X/Y) showed presence of sex determining region of Y chromosome (SRY) gene locus on X chromosome [ and ].