Endocrine Abstracts

Introduction: The incidence rate of 45X / 46XY karyotype and variants has been reported as 1 / 15,000 live births and is rare. The phenotypic spectrum of patients with 45X / 46XY varies widely from women with Turner syndrome to normal androgenized men. In adult male infertility studies, 45X / 46XY karyotype cases diagnosed as a result of genetic screening have been reported. However, there are case reports showing that, despite their normal appearance, these patients may have dysgenetic testes that can result in decreased testicular function, delayed puberty, and infertility. In this article, we will describe a rare, apparently normal 45X / 46 XY male case.

Case Presentation: A 33-year-old male patient consulted the endocrinology department for primary infertility. He suffered from erectile dysfunction. He had been married for one year but had never had an intercourse with his partner. He reported a normal pubarche at the age of 14 with normal development of facial hair however, in time, had lost interest for the opposite sex and had no sexual partner at all. Physical examination was unremarkable and axillary and pubic hair development were consistent with Tanner Stage V. Stretched penile length was 11 cm. Scrotal ultrasonography showed bilateral small testes: (right testicular volume:12x17x28mm and the left testicular volume: 115x23x25mm) Bilateral epididymis were normal in size and sonographically homogenous. Penile ultrasonography suggested findings of venous insufficiency. Laboratory analysis revealed hypergonadotropic hypogonadism. Complete blood count, liver and kidney function tests, and thyroid function tests were normal in the examinations. FSH was 33.1 mIU / mL, LH was 17.44 mIU / mL and T. testosterone 277.4. Azoospermia was detected in semen analysis. Karyotype analysis showed, 46XY (13) 45, X (17) mosaicism.

Conclusion: 45, X / 46, XY mosaicism can occur with a wide variety of phenotypes and patients without gender growth retardation can be easily ignored. It can affect hormonal balance, gonadal development, growth, and fertility. Chromosomal abnormalities should be considered in patients with absence of sexual desire and erectile dysfunction and hypergonadotropic hypogonadism, including phenotypically normal males.