Diminished Ovarian Reserve in Girls and Adolescents with Trisomy X Syndrome
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ORIGINAL ARTICLE
Diminished Ovarian Reserve in Girls and Adolescents with Trisomy X Syndrome Shanlee M. Davis 1,2 & Katelyn Soares 1 & Susan Howell 1,3 & Melanie Cree-Green 1,2,4 & Eliza Buyers 1,5 & Joshua Johnson 6 & Nicole R. Tartaglia 1,3 Received: 1 March 2020 / Accepted: 6 May 2020 # Society for Reproductive Investigation 2020
Abstract An extra X chromosome occurs in ~ 1 in 1000 females, resulting in a karyotype 47,XXX also known as trisomy X syndrome (TXS). Women with TXS appear to be at increased risk for premature ovarian insufficiency; however, very little research on this relationship has been conducted. The objective of this case-control study is to compare ovarian function, as measured by antimullerian hormone (AMH) levels, between girls with TXS and controls. Serum AMH concentrations were compared between 15 females with TXS (median age 13.4 years) and 26 controls (median age 15.1 years). Females with TXS had significantly lower serum AMH compared to controls (0.7 ng/mL (IQR 0.2–1.7) vs 2.7 (IQR 1.3–4.8), p < 0.001). Additionally, girls with TXS were much more likely to have an AMH below the 2.5th percentile for age with 67% of them meeting these criteria (OR 11, 95% CI 2.3–42). Lower AMH concentrations in females with TXS may represent an increased risk for primary ovarian insufficiency in these patients and potentially a narrow window of opportunity to pursue fertility preservation options. Additional research is needed to understand the natural history of low AMH concentrations and future risk of premature ovarian insufficiency in girls with TXS. Keywords Trisomy X syndrome (TXS) . Primary ovarian insufficiency (POI) . Anti-mullerian hormone (AMH) . Sex chromosome aneuploidy . Fertility
Introduction Trisomy X syndrome (TXS) is a sex chromosome aneuploidy caused by the presence of an extra X chromosome, yielding a karyotype of 47,XXX in affected females [1]. This
* Shanlee M. Davis [email protected] 1
Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO 80045, USA
2
Department of Pediatric Endocrinology, Children’s Hospital Colorado, 13123 East 16th Ave B265, Aurora, CO 80045, USA
3
Department of Developmental Pediatrics, Children’s Hospital Colorado, Aurora, CO, USA
4
Center for Women’s Health Research, Aurora, CO 80045, USA
5
Department of Pediatric and Adolescent Gynecology, Children’s Hospital Colorado, Aurora, CO 80045, USA
6
Department of Obstetrics and Gynecology, University of Colorado School of Medicine, Aurora, CO 80045, USA
chromosomal aneuploidy occurs in approximately 1 in 1000 live female births [2]. Despite the high prevalence of this condition, it is suspected that only about 10% of females with TXS are actually diagnosed [3, 4]. A wide range of medical and psychological conditions are found in association with TXS; however, some girls and women may be minimally affected. The most common clinical features of TXS include tall stature, hypotonia in infancy, clinodactyly, epicanthal folds, and constipation [5]. Less frequent,
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