Diagnosis and management of sexually ambiguous 46,XY partial gonadal dysgenesis

Abstract

Birth of child with ambiguous genitalia is the great challenge to the parents and medical staff. Aim: We present our experience of complicated diagnosis, gender assignment and surgical management of sexual ambiguity in 46 XY mixed gonadal dysgenesis. Method: Retrospective study of 5 cases treated in the institution1 from 2003 to 2006. Clinical picture, standard karyotyping on leucocytes, basal and HCG stimulated testosterone values, histology and immunohistochemistry of testicular and streak gonads were analyzed. Efficacy of Testosterone treatment was evaluated. Results: All patients had a vagina, uterus with an open neck and a short urogenital sinus. Genital tubercle was longer than 25 mm in all cases. One patient with declared female sex before diagnosis at the age of 1 year was reared as female. She had unpalpable gonads and her stimulated testosterone was 15.7 nmol/l. Other four patients with one palpable gonad and stimulated testosterone levels between 8.9 and 29.6 nmol/l were reared as male. Testosterone treatment prescribed to the boys showed good penile size response. Laparoscopic gonadal biopsy, gonadectomy or orchidopexy were performed in the first year of life. Histological studies showed presence of rare germ cells surrounded by embryonic sex cords in the streak portion of gonads. Germ cells were C-kit positive in all and PLAP positive in 4 patients. FOX L2 expression was detected in 4 streak gonads, AMH- in none. Appropriate genital surgery was performed in the second year of life in 4 patients. Conclusion: High testosterone after HCG stimulation and good response to testosterone treatment in 46,XY partial gonadal dysgenesis could orient towards male sex assignment. This type of sexual ambiguity should be differentiated from true hermaphroditism and other disorders of sexual differentiation. Early gonadal and genital surgery is recommended.