47, XXX syndrome with infertility, premature ovarian insufficiency, and streak ovaries

Abstract

We report a patient with primary infertility and clinical manifestation of premature ovarian insufficiency (POI) who upon investigation was found to have streak ovaries, and genetic testing revealed Trisomy X (47, XXX). Therefore, we suggest for genetic testing in women with POI to detect common aneuploidies for better counseling and treatment.

Noninvasive prenatal testing for assessing foetal sex chromosome aneuploidy: a retrospective study of 45,773 cases

“…45,X is a common chromosomal disorder affecting approximately 1 in 2500 to 1 in 2000 of live-born female infants [ 3 ], the common clinical manifestations of which include congenital cardiac anomalies, renal anomalies, and acquired metabolic syndrome [ 3 , 4 ]. 47,XXX occurs in 1 in 1000 female births [ 5 ]. In contrast to other trisomies, most of the girls born with triple X chromosomes do not have a characteristic physical appearance at birth, but their heights tend to be variable.…”

Non-invasive Prenatal Testing for Assessing Fetal Sex Chromosome Aneuploidy: A Retrospective Study of 45773 Cases

“…45,X is a common chromosomal disorder affecting approximately 1 in 2500 to 1 in 2000 of live-born female infants [3] , the common clinical manifestations of which include congenital cardiac, renal anomalies, and acquired metabolic syndrome [3,4] . 47,XXX occurs in 1 in 1000 female births [5] . In contrast to other trisomies, most of the girls born with triple X chromosomes do not have characteristic physical appearance at birth, but their height tends to be variable.…”

“…In contrast to other trisomies, most of the girls born with triple X chromosomes do not have characteristic physical appearance at birth, but their height tends to be variable. In addition, some individuals may exhibit developmental delays (speech and motor), learning or intellectual disability, and psychiatric problems [4,5] . 47,XXY is the most common sex chromosome aneuploidy, and it occurs in 1 of every 660 males [6] .…”

“…The phenotype of SCA patients spans a broad range of associated symptoms that vary in severity, depending on the timing of diagnosis and types of SCA [4,5,7,8,9] . The frequency of SCA is estimated to be 1 in every 500 live births.…”

“…With the implementation of the second-child policy in China in 2014, the pregnancy rate among women aged ≥ 35 years has gradually increased [5] . At present, it is generally believed that advanced maternal age (AMA) is an important risk factor in chromosomal abnormalities [2] .…”