ESPE Abstracts

Objective: To study the clinical characteristics of 46XX male syndrome case with negative SRY

Methods: To summarize the characteristics of one case of SRY negative 46XX male syndrome

Results: a 12-year-old boy came to our clinic for "breast development for one year". At the age of 1 year old, karyotype was done with the result of 46XX for hypospadias (penile-scrotal type). At the age of 2 years old, hypospadias repair and gonadal biopsy were performed. The pathological of gonad showed the both upper side of gonads were ovarian tissues, and a small amount of testis tissue was found on the edge of bilateral gonads. At the age of 11 years old, bilateral breast development was found with pain. The patient likes guns, cars. The child is G1P1. It is very difficult for the patient’s mother to conceive and the father’s sperm test is normal. Mother is 34 years old, and father is 36 years old. There was no family history of infertility. Physical examination: height 150.2cm (- 1SD, according to the boy), weight 46.5kg (- 0.2SD, according to the boy), fine skin, Tanner stage: bilateral breasts B4 stage, PH3, A2, penis size 5.5cm ×2.6cm, right testicle 4ml, left 8ml with soft texture. Lab test: E2 ＜10 pg/ml， T 1.92ng/ml，P0.10ng/ml，FSH36.49 IU/L，LH14.37IU/L，SHBG 39.20nmol/l；androstenedione 1.25nmol/l，DHEA 1.12umol/L，17(OH)P 0.77ng/ml，AMH 2.18 ng/ml，InhibinB ＜10 pg/ml，E1＜8.10pg/ml. Normal electrolyte and hepatorenal function. Normal thyroid function, and normal ACTH, 8am cortisol. The bone age was 13.5 years. Color Doppler ultrasound of testis: the left side: testicular echo, size 2.3cm ×0.9cm; the right side: multiple round cystic structures, range 2.9cm ×1.1cm, no testicular echo. Chromosome: 46XX; SRY sequence (-); gene test for Sox9, Sox3, Sox8, Sox10, PGD2, FGF9, Dmrt1, DAX-1, FOXL2, Wnt4, RSPO1, CTNNB1, SF1 were all negative. Although the final gene test results are negative, we know from the published literature that the risk of tumor development in this kind of patients is very low, and sex steriods replacement therapy is needed in the adolescent development age. If the gender is identified as a boy, mastectomy is required. The child is unable to produce normal sperm, so he needs to use assisted reproductive technology to conceive the next generation.

Conclusion: children with SRY negative 46XX male syndrome have a low risk of tumor development and need sex hormone replacement therapy.