Session: SUN 624-646-Growth: Clinical Trials & Observational Studies
Poster Board SUN-646
1. Ambiguous genitalia: 9 patients presented at birth with ambiguous genitalia, of whom 5 were reared as females and 4 were reared as males. The factors influencing the sex of rearing include: Prader grading of the external genitals, parental concern regarding potential for Y imprinting, and parental preference for a boy as the chosen sex of rearing in Asians, especially if short stature is a likely issue.
2. Short stature and delayed puberty: Most of the remaining 9 patients were diagnosed with MGD after work-up for short stature and delayed puberty. Interestingly, 4 patients were completely female at presentation, and 2 patients were completely male, presumably as a result of the high percentage of 46 XY cell line. One patient had presented with micopenis. Two other patients were initially thought to have Noonan syndrome with associated cardiac lesions, but on screening, were found to have MGD.
One patient developed a gonadal malignancy at 15 years of life. Five patients were treated with growth hormone. The mean height velocity 1 year post treatment was 7.1cm/year, as compared to the pre-treatment mean height velocity of 4.2cm/year.
We highlight the considerations that impact the decision for sex of rearing in MGD and the importance of screening the chromosomal karyotype in Noonan syndrome in males. The significance of diagnosing MGD lies in removal of the dysgenetic gonads which are at risk of malignancy, and in the potential for improving the final height with growth hormone treatment.
Nothing to Disclose: CWLH, YYJL, SYG, YSL, KYL
*Please take note of The Endocrine Society's News Embargo Policy at http://www.endo-society.org/endo2013/media.cfm
See more of: Abstracts - Orals, Featured Poster Presentations, and Posters