Prader-Willi Syndrome with Angelman Syndrome in the Offspring.
Angelman syndrome
Prader–Willi syndrome
fertility
offspring
Journal
Medicina (Kaunas, Lithuania)
ISSN: 1648-9144
Titre abrégé: Medicina (Kaunas)
Pays: Switzerland
ID NLM: 9425208
Informations de publication
Date de publication:
08 May 2021
08 May 2021
Historique:
received:
10
04
2021
revised:
02
05
2021
accepted:
04
05
2021
entrez:
2
6
2021
pubmed:
3
6
2021
medline:
4
6
2021
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 34066798
pii: medicina57050460
doi: 10.3390/medicina57050460
pmc: PMC8150800
pii:
doi:
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Références
J Clin Endocrinol Metab. 2006 Mar;91(3):892-8
pubmed: 16352691
Eur J Pediatr. 2003 May;162(5):327-33
pubmed: 12692714
J Ment Defic Res. 1973 Sep-Dec;17(3):193-225
pubmed: 4211793
Eur J Endocrinol. 2010 Feb;162(2):377-84
pubmed: 19946044
J Clin Endocrinol Metab. 2012 Sep;97(9):E1766-73
pubmed: 22723315
J Neurol. 2015 Jan;262(1):116-23
pubmed: 25326049
Genet Med. 2012 Jan;14(1):10-26
pubmed: 22237428
Intellect Dev Disabil. 2012 Apr;50(2):155-68
pubmed: 22642969
Am J Med Genet A. 2015 Sep;167A(9):2138-44
pubmed: 25832033
Am J Med Genet. 1987 Mar;26(3):749
pubmed: 3565489
Int J Mol Sci. 2021 Mar 08;22(5):
pubmed: 33800122
J Clin Endocrinol Metab. 2012 Mar;97(3):707-18
pubmed: 22392951
Eur J Hum Genet. 2009 Jan;17(1):3-13
pubmed: 18781185
Mol Cell Endocrinol. 2000 Mar 30;161(1-2):73-88
pubmed: 10773395
Horm Res. 2009;72(3):153-9
pubmed: 19729946
Am J Med Genet C Semin Med Genet. 2010 Aug 15;154C(3):365-76
pubmed: 20803659
Hum Reprod. 2015 Nov;30(11):2587-96
pubmed: 26345685
Epileptic Disord. 2007 Jun;9(2):145-8
pubmed: 17525023
Am J Med Genet. 1986 Jan-Feb;23(1-2):127-37
pubmed: 3953642
Clin Endocrinol (Oxf). 2012 Jan;76(1):72-7
pubmed: 21718342
J Urol. 2015 Jan;193(1):291-8
pubmed: 25109686
Am J Med Genet. 1988 Mar;29(3):669-72
pubmed: 3377010
Pediatrics. 1993 Feb;91(2):398-402
pubmed: 8424017
J Endocrinol Invest. 2015 Dec;38(12):1249-63
pubmed: 26062517
Nat Rev Neurol. 2016 Oct;12(10):584-93
pubmed: 27615419
Acta Paediatr. 2001 Apr;90(4):455-9
pubmed: 11332942
Adv Pediatr. 2016 Aug;63(1):47-77
pubmed: 27426895
Dev Med Child Neurol. 1999 Nov;41(11):789-90
pubmed: 10576646
J Med Genet. 1992 Jun;29(6):412-5
pubmed: 1619637
Pediatr Clin North Am. 2015 Jun;62(3):587-606
pubmed: 26022164