A Case Report of Familial Mayer-Rokitansky-Küster-Hauser Syndrome as Part of the Phenotypic Spectrum of the 2q37 Deletion.
J Pediatr Adolesc Gynecol
; 37(1): 95-97, 2024 Feb.
Article
em En
| MEDLINE
| ID: mdl-37734585
ABSTRACT
We performed a genetic investigation into the case of an inherited Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. Our patients were an adolescent and her mother, both with MRKH syndrome. The delivery of a biological offspring was achieved via a gestational carrier. Karyotype and exome sequencing were used to complete a three-generation genetic analysis of the family. Both the mother and her daughter harbored a deletion of 4 Mb at the locus of 2q37, a syndrome rarely described in association with MRKH. No pathogenic single-nucleotide variant relevant to the phenotype was found. The deletion was not inherited from either parent of the mother. In addition, some physical findings suggesting 2q37 deletion syndrome were found in our patients. We conclude that when combined with the use of a gestational carrier or uterine transplantation, the identification of a genetic cause for MRKH may enable the application of preimplantation genetic testing on embryos, thus potentially averting the transmission of the genetic anomaly to subsequent generations.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Anormalidades Congênitas
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Transtornos 46, XX do Desenvolvimento Sexual
Tipo de estudo:
Prognostic_studies
Limite:
Adolescent
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Female
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Humans
Idioma:
En
Revista:
J Pediatr Adolesc Gynecol
Assunto da revista:
GINECOLOGIA
/
PEDIATRIA
Ano de publicação:
2024
Tipo de documento:
Article