Growth and effects of growth hormone therapy in patients with 45, X/46, XY mixed gonadal dysgenesis

45, X/46, XY mixed gonadal dysgenesis is a rare variant of diverse sex development (1.5 cases/10,000 newborns) that causes abnormal development of the gonads as well as deviations in the development of the patients' internal and external genitals. This genetic mosaicism causes short stature in addition to many other symptoms in affected boys and girls. Our retrospectivemulti-center study was done to evaluate growth and the efficacy of growth hormone treatment in patients treated in Austria. Growth, cytogenetic, anatomic and histologic findings, the onset of puberty and data on surgery were analyzed in 21 patients (9 girls, 12 boys) aged between 4 and 26 years. Fifteen of 21 patients received growth hormone therapy because of short stature. The mean final height of growth hormone-treated boys was 158.6 cm(+/- 5.38 cm), equivalent to -2.85 SDS. Girls treated with growth hormone achieved a mean final height of 148.9 cm (+/- 5.23 cm), equivalent to -3.06 SDS. Because of our unsatisfactory results concerning growth hormone therapy in our patients, which are equivalent to recent studies, it seems necessary to basically question the need for growth hormone in patients with 45, X/46, XY mixed gonadal dysgenesis. Outcome data in untreated patients was insufficient (one fully grown female patient) for comparison in our study.