Oasi Research Institute-IRCCS, 94018 Troina, Italy.
Department of Sciences for Health Promotion and Mother and Child Care "G. D'Alessandro", University of Palermo, 90128 Palermo, Italy.
Medicina (Kaunas). 2021 May 8;57(5):460. doi: 10.3390/medicina57050460.
We report the second case, to the best of our knowledge, of a mother with Prader-Willi syndrome (PWS) who gave birth to a daughter with Angelman syndrome (AS). The menarche occurred when she was 16, and the following menstrual cycles were irregular, but she never took sexual hormone replacement therapy. At the age of 26, our patient with PWS became pregnant. The diagnosis was confirmed by molecular genetic testing that revealed a ~5.7 Mb deletion in the 15q11.1-15q13 region on the paternal allele in the mother with PWS and the maternal one in the daughter with AS, respectively. Both the mother with PWS and the daughter with AS showed peculiar clinical and genetic features of the two syndromes. Our case report reaffirms the possible fertility in PWS; therefore, it is very important to develop appropriate socio-sexual education programs and fertility assessments in order to guarantee the expression of a healthy sexuality.
据我们所知，我们报告了第二例普瑞德-威利综合征（PWS）母亲生育 Angelman 综合征（AS）女儿的病例。她的初潮发生在 16 岁时，随后的月经周期不规律，但她从未接受过性激素替代治疗。26 岁时，我们的 PWS 患者怀孕了。通过分子遗传学检测证实了这一诊断，结果显示 PWS 母亲的父系等位基因上存在约 5.7 Mb 的 15q11.1-15q13 区域缺失，而 AS 女儿的母系等位基因上也存在同样的缺失。PWS 母亲和 AS 女儿均表现出两种综合征的独特临床和遗传特征。我们的病例报告再次证实了 PWS 患者可能具有生育能力；因此，非常有必要制定适当的社会-性教育计划和生育评估，以保证健康的性行为表达。
