Objective: To study clinical and laboratory characteristics of patients with disorders of sex development (DSD) 45,X/46,XY.
Subjects and methods: It was included 248 patients with genital ambiguity, which were divided into groups based on cytogenetic survey. All children with mosaicism 45,X/46,XY evaluated the structure of the external genitalia on the external masculinization score (EMS, range 012), ultrasound examination, the definition of anti-Mullerian hormone (AMH, n=15), basal and stimulated human chorionic gonadotropin (HCG) testosterone (T, n=12). There was removed from seven gonads of 11 patients.
Results: The structure of patients with DSD showed 46,XY DSD 48.4% (120/248), 46,XX DSD 37.5% (93/248), 14.1% (35/248) sex chromosome DSD. With mosaicism 45,X/46,XY was 21 patients, the sex of rearing was male in 81% (17/21) and female in 19% (4/21) cases. Mediana EMS was 3 [1÷11]. Range of EMS of 17 male patients was from 1 to 11, female patients were 1. Mullerian remnants were revealed in 85.8% (18/21). Gonadal examination of seven gonads showed classical picture of mixed gonadal dysgenesis had just 28.5% of cases (2/7). 52.2% children (11/21) had growth retardation, 35% (7/20) had renal malformation, and 82% (9/11) congenital heart defects. During hormonal evaluation was detected positive correlation between basal T in mini-puberty and range EMS (n=8, r=0.9, p=0.01). There was a trend to higher frequency low AMH compared to the frequency poor T response to the test with HCG (p=0.17).
Conclusion: The group of patients with DSD 45,X/46,XY was heterogenous in structure of external genitalia, internal genitalia and degree of gonadal dysgenesis. In most cases patients had low levels of AMH, which is a more significant marker of testicular dysgenesis than ΔT. We detected positive correlation between basal T in mini-puberty and range EMS.
10 - 12 Sep 2016
European Society for Paediatric Endocrinology