Gonadotropins (FSH, LH) and testosterone are the prime regulators of germ cell development. Abnormal spermatogenesis is often associated with altered serum gonadotropins and testosterone. FSH, LH and testosterone levels were estimated in 96 infertile men of whom 35 were azoospermic, 35 were oligozoospermic, 11 were with varicocele and 15 were with histopathological abnormalities like hypospermatogenesis, spermatid arrest and sertoli-cell only syndrome. Results showed statistically significant (p<0.05), increase in the mean FSH and LH levels in all the infertile males studied when compared with the fertile controls (n=35). However, there is no significant difference in the mean levels of testosterone between the infertile and fertile men.

The testing for microdeletion 22q11.2 in isolated non-syndromic patients using FISH technique is mandatory even when mild/unspecific extracardiac abnormalities are seen in the patients.

Primary amenorrhea refers to absence of spontaneous menarche even after the age of 16. Cytogenetic analysis in two cases with primary amenorrhea, short stature, poorly developed secondary sexual characteristics, and growth retardation were studied. Routine GTG-band analysis of metaphases from peripheral blood leucocytes revealed female karyotype with a 15(ps+) and an isochromosome of X, i(Xq), in one patient and 46,X, i(Xq), in another patient. Ascertainment of the karyotype aided in confirmation of the provisional diagnosis, a better phenotype–genotype correlation to understand clinical heterogeneity in genetic counseling.

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