Endocrine Abstracts

Introduction: 46 XX male syndrome generally presented as hypogonadotrophic hypogonadism.

Case report: A 39-year-old man was referred to our clinic with a pituitary mass. He had a history of pituitary adenoma of 45×28×40 mm size which was found after his admission with right-sided vision loss at 2006. The hormonal analyses showed hypogonadotrophic hypogonadism without any excess hormone levels. A transcranial pituitary adenomectomy was performed. Pathology was considered as an adenoma which had no immunstaining with TSH, ACTH, GH, and prolactin. After the operation, his vision loss improved.

When he admitted to our clinic he was suffering from loss of libido, infertility, headaches, and relapsing of vision loss on the right side. Hormonal analyses showed hypogonadotrophic hypogonadism. An MRG of the hypophysis showed a 37×32×28 mm pituitary mass. Second operation was performed at 2011. The pathology was negative for any of the immun staining. After the operation there was residual pituitary mass of 24×25×20 mm but the patient had no headaches and vision problems. But loss of libido and infertility still existed. On ultrasonography both testes were small as maximal diameter of 18 mm. He had no sperms on spermiogram. We started human chorionic gonadotropin alone and then we added menotropin to the therapy. After 12 months, he had still no sperms on spermiogram and no change of testicular sizes. We performed a chromosomal analysis to investigate other pathologies. A 46 XX genotype with deletions on regions SY84, SY86, SY127, SY134, SY254, and SY255 detected on the analysis. The result was considered as 46 XX male syndrome. Testosterone therapy was started instead of gonadotropin therapy.

Conclusion: The 46 XX male syndrome usually presents with hypergonadotrophic hypogonadism however in our case it presented with hypogonadotrophic hypogonadism due to pituitary mass.