Gender differentiation results from the interaction of hormonal and genetic factors. According to the sex chromosomes of the individual and the effect of transcriptional factors, testis or ovary develop from the embryonic bipotential gonads.
A boy from non-consanguineous family was admitted to pediatric endocrine department because of non-palpable testes in the scrotum. A 7-year and 2-month-old boy was born with weight of 2500 g by vaginal delivery. It was learned from his previous history that he had undergone laparoscopy and no testes had been found in the abdomen. On general examination, height was 133.6 cm (97p), height SDS 2, weight 27 (75-90p), and weight SDS was 0.89. The patient was conscious, oriented, and well-nourished with normal secondary sexual characteristics for his age. On local genital examination, he had 5 cm stretched penile length, 1 cm penile width, no axillary and pubic hair. Right and left scrotal sac appeared empty.
For finding location of testes, ultrasonography and MRI were done and no testes was found in abdomen, inguinal canal, or scrotum. Karyotyping revealed a normal 46,XY karyotype. Serum follicle-stimulating hormone, luteinizing hormone, and total testosterone levels were 33.02 mIU/mL (normal reference range <6.7), 0.54 mIU/mL (normal reference range 0.3-6.0), and 5.19 ng/dL (normal reference range <7), respectively. Serum testosterone levels were not increased in response to 1500 units/dose HCG stimulation test for 3 days. The diagnosis of vanishing testis was confirmed and hormone replacement therapy was planned to start during puberty.
Early diagnosis and appropriate treatment will prevent the development of hypogonadism complications.