Ductal carcinoma In-Situ in turner syndrome patient undergoing hormone replacement therapy: A case report
Turner’s syndrome is a rare congenital disease which affects about 1 in every 2500-3000 live-born females. This happens due to chromosomal abnormalities in a phenotypic female, causing increased gonadotropin concentrations and low concentrations of estrogens from infancy. As a result, hormone replacement therapy is started in most adolescent Turner syndrome patients to initiate and sustain sexual maturation. Accordingly, most Turner’s syndrome patients undergo several decades of estrogen replacement therapy, from puberty to post-menopausal age. The highly publicized findings of the Women’s Health Initiative have called into question the appropriateness of hormone replacement therapy in adolescents with Turner’s syndrome. Those concerns were mostly theoretical extrapolations, as few prospective studies of cancer occurrence in women with Turner syndrome have been reported. Consequently, several recent publications have challenged those extrapolations, based on the assertion that the levels of hormone replacement in Turner syndrome patients are well below the physiologic levels observed in normal menstruating women, as well as the fact that these women are significantly younger than those studied by the Women’s Health Initiative. In discord to those reports, we present a case of ductal carcinoma in-situ in a 40-year-old Turner patient, who had undergone over two decades of combined hormone replacement therapy. The patient underwent an elective excisional biopsy for a palpable mass, with histopathology revealing a complex fibroadenoma with a nidus of ductal carcinoma in-situ. The lesion was noted to be estrogen receptor positive and progesterone receptor negative, with heavy staining for HER-2/Neu receptor. The patient was treated with tamoxifen. While a rare case, it is imperative for the astute clinician to keep in mind the consequences of long-term hormone replacement therapy in Turner’s syndrome patients in order to avoid missed diagnosis of breast cancer for optimum management of these patients.
Turner Syndrome, Ductal Carcinoma In-Situ, DCIS, Hormone Replacement Therapy, HRT, Estrogen Replacement Therapy, Breast Cancer
Stochholm K, Juul S, Juel K, et al. Prevalence, incidence, diagnostic delay, and mortality in Turner syndrome. J Clin Endocrinol Metab. 2006;91:3897-902.
Gravholt CH. Epidemiological, endocrine and metabolic features in Turner syndrome. Eur J Endocrinol. 2004; 151:657-87.
Elsheikh M, Dunger DB, Conway GS, Wass JA. Turner's syndrome in adulthood. Endocr Rev. 2002;23:120-40.
Warren MP, Chua A. Appropriate use of estrogen replacement therapy in adolescents and young adults with Turner syndrome and hypopituitarism in light of the Women's Health Initiative. Growth Horm IGF Res. 2006;16 Suppl A:S98-102.
Giordano R, Forno D, Lanfranco F, et al. Metabolic and cardiovascular outcomes in a group of adult patients with Turner's syndrome under hormonal replacement therapy. Eur J Endocrinol. 2011; 164:819-26.
Rossouw JE, Anderson GL, Prentice RL, et al. Risk and benefits of estrogen plus progestin in healthy postmenopausal women: principal results from the Women’s Health Initiative randomized controlled trial. JAMA. 2002; 288:321-33.
Schoemaker MJ, Swerdlow AJ, Higgins CD, et al. Cancer incidence in women with Turner syndrome in Great Britain: a national cohort study. Lancet Oncol. 2008; 9:239-46.
Bösze P, Tóth A, Török M. Hormone replacement and the risk of breast cancer in Turner's syndrome. N Engl J Med. 2006; 355:2599-600.
Collaborative Group on Hormonal Factors in Breast Cancer. Breast cancer and hormonal contraceptives: collaborative reanalysis of individual data on 53,297 women with breast cancer and 100,239 women without breast cancer from 54 epidemiological studies. Lancet. 1996; 347:1713-27.
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