Abstract Book - 26th ESPU Congress, Joint Meeting with ICCS + SPU + AAP/SOU + AAPU + SFU

09:22 - 09:25

S13-4

(PP)

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GENETIC AND CLINICAL VARIATION OF MIXED GONADAL DYSGENESIS AND

THE VALIDITY OF EXTERNAL AND INTERNAL MASCULINIZATION SCORES FOR

PREDICTION OF GROWTH

Sang Hoon SONG, Jaeyoon JUNG, Chanwoo LEE, Sungjin KIM and Kun Suk KIM

Asan Medical Center, University of Ulsan College of Medicine, Department of Urology, Seoul, KOREA (REPUBLIC OF)

PURPOSE

The aim of this study was to evaluate the role of external and internal masculinization scores (EMS and IMS,

respectively) in the assessment of mixed gonadal dysgenesis and prediction of their growth.

MATERIAL AND METHODS

We retrospectively reviewed the medical records of 198 patients diagnosed with mixed gonadal dysgenesis or Turner’s

syndrome. A total of 10 patients with the 45XO/46XY karyotype, unilateral dysgenetic gonad, and contralateral testis

were included in this study. Using a specially devised scoring system by Ahmed, the external genitalia (external

masculinization score, EMS, range 0 ± 12) and internal reproductive structures (internal masculinization score, IMS,

range 0 ± 10) were assessed. According to the gender assignment, we performed surgical management including

gonadectomy, orchiopexy, hysterectomy, and urethroplasty as indicated. The correlation between the EMS or IMS score

and the anthropometric data of the patients were analyzed.

RESULTS

The median age of the patients at surgery was 9 months (range 4–20). During the median 6 years (1–17) of follow-up,

four patients were treated with growth hormone. However, six patients including three patients treated with growth

hormone had a final height in or below the 25

percentile. The percentage of 45XO cells in the karyotype significantly

correlated with BMI distribution in all patients (A, correlation coefficient = 0.638, p = 0.047, R

= 0.407), and in female

patients (B, correlation coefficient = 0.974, p = 0.026, R

= 0.948). The correlation between EMS and the final stature

was significant in male patients (A, correlation coefficient = 0.909, p = 0.012, R

= 0.826). In female patients, those

with high IMS score tended to have a higher BMI (B, correlation coefficient = 0.926, p = 0.074, R2 = 0.857).

CONCLUSIONS

EMS, IMS, and the percentage of 45XO cells in the karyotype are useful for the prediction of anthropometric features

during follow-up of these patients.