6533b86ffe1ef96bd12ce706

RESEARCH PRODUCT

Prader–Willi Syndrome with Angelman Syndrome in the Offspring

Angela Antonia CostanzoSerafino BuonoPaola OcchipintiCorrado RomanoAngelo GloriaMichele RoccellaLuigi VetriDonatella GrecoGiuseppe QuatrosiLetizia RagusaMirella Vinci

subject

Medicine (General)congenital hereditary and neonatal diseases and abnormalitiesPediatricsmedicine.medical_specialtyPrader–Willi syndromeOffspringmedia_common.quotation_subjectCase Report030209 endocrinology & metabolismFertilityHuman sexuality03 medical and health sciencesR5-9200302 clinical medicinePregnancyAngelman syndromeHumansMedicineAllelemedia_commonfertilityDaughter030219 obstetrics & reproductive medicineoffspringbusiness.industrynutritional and metabolic diseasesGeneral Medicinemedicine.diseaseSettore MED/39 - Neuropsichiatria Infantilenervous system diseasesTransgender hormone therapyAngelman syndromeMenarcheFemaleAngelman syndrome Fertility Offspring Prader–Willi syndrome Female Fertility Humans Pregnancy Angelman Syndrome Prader-Willi SyndromebusinessPrader-Willi Syndrome

description

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.

yearjournalcountryeditionlanguage
2021-05-01Medicina
https://doi.org/10.3390/medicina57050460