Endocrine Abstracts

Introduction

We present the very rare case of a patient with ovotesticular disturbance of sexual development (DSD) by 46 XX/46 XY genetic chimerism.

Case report

A 47-year-old patient with male appearance consulted for gynecomastia developed in the last 3 - 4 years. Clinical examination showed genital organs ambiguity with a small scrotum, no palpable testis, a clitoris instead of penis. Painful bilateral gynecomastia of 5–6 cm in diameter was present. From the patient’s pathological antecedents we retain a surgical correction for hypospadias in 2001 and an inguinal hernia surgically cured in 2017. Hormonal dosages showed secretion of both testosterone (low level for male values) and estradiol (elevated level for male values), a slight elevation of FSH and LH and normal Prolactin. No other hormonal disturbances were noted. An IRM investigation of the pelvis showed the presence of an uterus of 28/22 mm and one ovary of 20/28 mm, with follicular structure, the absence of prostate and seminal vesicles, in the right scrotum a small structure of 20/14 mm suggesting a testis, a small structure of 26/27mm suggesting a clitoris. All this features lead to the diagnosis of ovotesticular disturbance of sexual development, previously known as true hermaphroditism. The karyotype analysis showed the concomitant presence of 50% cells with 46XX karyotype and 50% cells with 46XY karyotype, indicating a genetic chimerism. The hormonal treatment consisted in Testosterone 23 mg/day in transdermal application and Raloxifen 60 mg/day for gynecomastia. The patient will be treated by removal of both uterus, ovary and testis followed by rseplacement therapy with testosterone, as the attributed and assumed sex is male.

Conclusion

Genetic chimerism is defined by the simultaneous existence of two or more genetically distinct cell lines in a single individual. 46XX/46XY is an example of tetragametic chimerism. It is a very rare condition resulting from several possible mechanisms, the most probable being the intrauterine fusion of two different gametes, one 46 XX and one 46 XY. leading to ovotesticular DSD.