Objective-To evaluate uterine development of women with Turner syndrome (TS) receiving conventional medical care.Study design-In a cross sectional study we used ultrasound for uterine evaluation in 86 women with TS aged 18-45 years participating in an intramural NIH study, and who had abnormal karyotypes in >70% of white blood cells. Outcomes were uterine dimensions and shape. Information on hormone treatment was obtained by personal interview.Results-Twenty five percent had a mature in size and shape uterus, and 31% had an immature uterus, with the remainder in a transitional category. Twenty percent of all participants were not taking hormone replacement (HRT) in the preceding year. The majority on treatment were taking conjugated estrogens or oral contraceptives. Factors associated with uterine maturity were history of spontaneous puberty, and duration and type of HRT, with estradiol based treatment being the most effective. The age at starting HRT was not a critical factor.Conclusions-Women with TS may develop a normal uterus even at a late start of HRT given adequate duration of treatment and regardless of karyotype.
KeywordsTurner syndrome; uterine development; estrogen replacement; ultrasound Turner syndrome (TS) is defined as deficiency of all or part of the second sex chromosome in phenotypic females and is relatively common, affecting ~1/2500 female births (1). Premature ovarian failure affects nearly 95% of girls and women with this disorder, who usually require exogenous estrogen treatment to induce puberty and maintain feminization and bone health throughout the adult years (2). Concerns about the timing of pubertal induction have related mostly to optimization of statural growth in response to pharmacological growth hormone treatment, because a delay in the age of estrogenization allows a longer period of longitudinal bone growth (3,4). However, several European studies have suggested that conventional pubertal induction does not produce optimal development of the uterus in TS(5-7).All correspondence to: Vladimir K. Bakalov, DEB, NICHD, 10 Center Drive, CRC 1-3330, Bethesda, MD 20892-1103, Tel: 301 496 3883, Fax: 301 402 0574, Email: bakalov@mail.nih.gov. Publisher's Disclaimer: This is a PDF file of an unedited manuscript that has been accepted for publication. As a service to our customers we are providing this early version of the manuscript. The manuscript will undergo copyediting, typesetting, and review of the resulting proof before it is published in its final citable form. Please note that during the production process errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain. It is not clear from these studies whether impaired uterine development was due to delayed estrogen treatment, too low dosage, or perhaps the use of progestins with androgenic properties. There does not seem to be any inherent defect in uterine capacity in TS, because development is normal in girls with TS with spontaneous puberty (5,8). At this time ...