Endocrine Abstracts

Introduction: Only few cases of true hermaphroditism with male phenotype and 46,XX/ 47,XXY Klinefelter’s mosaic karyotype with clinical features different among cases have been previously described.

Case report: A 12-year-old patient was referred to our clinic for mixed gonadal dysgenesis. Since birth he has ambigous genitalia: unilateral criptorchidism on the right and perineal hypospadia; left gonad was palpable in the scrotum since birth. At the age of 1.5 months the child underwent surgery for the strangulated right inguinal hernia: fallopian tube and a necroticised right gonad were removed. Histopathological examination revealed ovarian tissue. Cytogenetic analysis of peripheric blood at the age of 1.5 years detected 46,XX (80%)/47,XXY (20%) karyotype. He had hypospadia repairing in several steps. Further, the Mullerian remnants were removed laparoscopically also on the left. At presentation, his stature was 145.5 cm (−0.2 SDS), weight: 34 kg (−1 SDS), bone age: 13 years, pubertal stage: Px3Ax1; left testis 1 ml, penis 4.5×2.5 cm; bilateral ginecomastia. Both serum LH and FSH levels were evevated, basal testosterone and estradiol were low. At ultrasound, a structure typical for testicular tissue with the epididimal cyst on the left and the rudimentary uterus were present. As the patient is raised as a male, testosterone replacement therapy for primary hypogonadism has been prescribed; surgical removal of any Mullerian structures left was recommended. The left gonade, presumably testis, requires biopsy and further monitoring for malignancy.

Conclusion: This case of disorder of sexual differentiation with male phenotype and 46,XX/ 47,XXY Klinefelter syndrome’s mosaic karyotype is intriguing for finding of Mullerian remnants on both sites. A comparative review of previoulsy reported ten cases will be done to empaphazyse doctors’s awareness and the necessity of multidisciplinary approach to cover differnt aspects of follow-up for every such a patient.

Declaration of interest: The authors declare that there is no conflict of interest that could be perceived as prejudicing the impartiality of the research project.

Funding: This research did not receive any specific grant from any funding agency in the public, commercial or not-for-profit sector.