Phenotypic Spectrum in Mixed Gonadal Dysgenesis and the Influence on Sex of Rearing

Program: Abstracts - Orals, Featured Poster Presentations, and Posters
Session: SUN 624-646-Growth: Clinical Trials & Observational Studies
Sunday, June 16, 2013: 1:45 PM-3:45 PM
Expo Halls ABC (Moscone Center)

Poster Board SUN-646
Cindy Wei-Li Ho*1, Yvonne Yi-Juan Lim1, Siok Ying Goh1, Yung Seng Lee2 and Kah Yin Loke2
1National University Hospital, Singapore, Singapore, 2Yong Loo Lin School of Medicine, Singapore, Singapore
Mixed gonadal dysgenesis (MGD) with mosaicism of 45 XO and 46 XY cell lines presents with a heterogeneous phenotypic spectrum as a consequence of the variable tissue proportion of the 2 cell lines.  We describe a case series of 18 patients with mixed gonadal dysgenesis seen at our paediatric department over the past 20 years. The patients presented with 2 main phenotypes:

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

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