Division of Reproductive Endocrinology and Infertility, Department of Gynecology and Obstetrics, Stanford University School of Medicine, Stanford, CA 94305, USA
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Abstract |
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Key words: adnexal mass/endometrioma/endometriosis/hormone replacement therapy/Turners syndrome
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Introduction |
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Endometriosis in patients with Turners syndrome has rarely been reported in the literature. There are only five case reports describing endometriosis in patients with gonadal dysgenesis (Doty et al., 1980; Peress et al., 1982
; Binns and Banerjee, 1983
; Bosze et al., 1987
; Meinen et al., 1989
). Currently, the medical management of patients with Turners syndrome includes the prepubertal use of growth hormone, which has been shown to result in a significant increase in adult height (Rosenfeld, 1998; Saenger, 1996
). HRT is then started around the age of 15 years to attain maximum secondary sexual characteristics and to prevent later osteoporosis as the result of a hypoestrogenic state (Rosenfield et al., 1998
). This paper presents a case report of an endometrioma in an atypical site occurring subsequent to the initiation of HRT in a patient with mosaic Turners syndrome.
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Case report |
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The patient presented initially to us at the age of 19 years with the chief complaint of primary amenorrhoea. She appeared to be a phenotypic female. Childhood history was unremarkable except for short stature. She reported breast bud development at age 11 and sparse pubic hair growth subsequently. At age 15 years, she consulted a gynaecologist, but could not tolerate a pelvic exam and did not seek further evaluation. At that time she was told that her blood pressure was elevated. The remainder of her history including family history was unremarkable.
On physical examination, she appeared anxious. She was 154 cm tall and weighed 52 kg. Her initial blood pressure was 130/100 mmHg but was repeatedly normal at 120/80 mmHg on subsequent exams. Her breasts were small and undeveloped and were assessed to be at Tanner stage 2. There was minimal pubic hair. On pelvic exam, the length of the vagina was found to be normal at 8 cm and a hypoplastic uterus was palpated. The uterus measured 3 cm in length, using a transvaginal ultrasound. Adnexa were free of masses and no distinct ovaries could be visualized by ultrasound. There was no webbing of the neck, increased carrying angles, nor a shield chest. The measurement of peripheral gonadotrophins revealed the FSH level to be >100 mIU/ml and LH level to be 70 mIU/ml. The karyotype of 16 out of 20 peripheral leukocytes analysed was 45,X, and the karyotype of the remaining four leukocytes was 46,X pseudodicentric Y(q11.23). Due to the presence of a Y chromosome component, which put her at an increased risk for developing a gonadoblastoma or dysgerminoma, the patient underwent laparoscopic bilateral gonadectomy. Both streak gonads were removed and histological analysis revealed that these gonads had atrophic ovarian cortex, medulla and hilum. The uterus was hypoplastic but normal in gross appearance (Figure 1a).
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We performed a diagnostic laparoscopy and found a 5 cm greywhite mass on a stalk emanating from the uterine fundus (Figure 1b). No ovarian tissue or mass was present in the ovarian fossa on either side. The mass was removed laparoscopically and was consistent with an endometrioma on frozen section examination. There were other endometriotic lesions on the bladder serosa, left ovarian fossa, and left uterosacral ligament. The pathologists final report described the mass to contain a smooth wall exteriorly with endometrial glands and stroma lining the interior of the cyst with abundant haemosiderin-laden macrophages, consistent with an endometrioma.
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Discussion |
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In the literature, there are only five case reports of endometriosis in patients with gonadal dysgenesis (Table I) (Doty et al., 1980
; Peress et al., 1982
; Binns and Banerjee, 1983
; Bosze et al., 1987
; Meinen et al., 1989
). Additionally, there is one report of endometriosis occurring in a woman with primary hypogonadism (Cavins, 1968
). It is of particular interest that all cases reported in the literature received exogenous cyclical HRT and all but one had menstrual flow. The dosages of estrogen and progesterone used were in the range for post-menopausal HRT in four patients, with oral contraceptive pills used in the fifth. Since these young women were given HRT in amounts that typically induce menstrual flow, endometriosis could have developed from retrograde menstruation. Alternatively, coelomic metaplasia could be the mechanism of pathogenesis of endometriosis in these Turners patients. One of the cases with pelvic endometriosis had persistent amenorrhoea (Doty et al., 1980
) and another had an endometrial biopsy on HRT, which revealed atrophic endometrial glands and stroma (Peress et al., 1982
). Thus, at least in these two patients, retrograde menstruation is unlikely to be the cause of endometriosis.
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The multiple benefits of HRT in young women with hypogonadism and the relatively low incidence of endometriosis in Turners syndrome patients warrant initiation and continuation of HRT in these patients (Saenger, 1996). Unopposed estrogen use has been implicated in the development of an endometrioma in a post-menopausal woman (Bellina and Schenck, 2000
) and has been associated with the occurrence of adenocarcinoma arising in endometriosis (Heaps et al., 1990
). Endometrial growth in various tissues has been purported to occur when an estrogen threshold has been surpassed by a combination of endogenous and exogenous estrogen source (Barbieri, 1992
). The addition of progestins to HRT is endorsed in all women with intact uterus to prevent the development of endometrial hyperplasia and adenocarcinoma (Manson and Martin, 2001
), and has been suggested to reduce the incidence of pain recurrence and malignant transformation of residual endometriosis following hysterectomy and gonadectomy (Corson, 1992
). However, the literature lacks studies comparing continuous combined HRT with cyclical HRT with regards to the development of endometriosis. Still, it seems prudent to use a continuous combined regimen in a patient with a history of endometriosis and an intact uterus, in order to minimize cyclic menstruation and potential retrograde endometrial flow. Accordingly, we have recently changed our patients HRT regimen from a cyclical to a continuous combined therapy with oral conjugated equine estrogen 0.625 mg and medroxyprogesterone 5 mg daily.
The incidence of endometriosis in Turners syndrome patients on HRT appears to be very low. However, our case report, together with a handful of prior reports, should remind physicians to be aware and screen for this possibility during follow-up visits and physical examinations.
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Notes |
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Presented in part at the 56th Annual Meeting of the American Society for Reproductive Medicine, October 2126, 2000, San Diego, CA, USA.
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References |
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Batt, R.E. and Smith, R.A. (1989) Embryologic theory of histogenesis of endometriosis in peritoneal pockets. Obstet. Gynecol. Clin. North Am., 16, 1528.[ISI][Medline]
Bellina, J.H. and Schenck, D. (2000) Large postmenopausal ovarian endometrioma. Obstet. Gynecol., 96, 846.
Berger, G.S. (1994) Epidemiology of endometriosis. In Nezhat, C.R., Berger, G.S., Nezhat, F.R., Buttram, V.C. and Nezhat, C.H. (eds), Endometriosis: Advanced Management and Surgical Techniques. Springer Verlag, New York, pp. 37.
Binns, B.A.O. and Banerjee, R. (1983) Endometriosis with Turners syndrome treated with cyclical oestrogen/progestogen. Case report. Br. J. Obstet. Gynecol., 90, 581582.
Bosze, P., Gaal, M., Toth. A. and Laszlo, J. (1987) Endometriosis and streak gonad syndrome. Arch. Gynecol., 240, 253254.[ISI][Medline]
Cavins, A.W. (1968) Endometriosis in a case of primary hypogonadism. J. Indiana State Med. Assoc., 61, 996999.[Medline]
Corson, S.L. (1992) Surgical treatment of endometriosis-associated pain. In Corson, S.L. (ed.), Endometriosis: The Enigmatic Disease, 1st edn. Essential Medical Information Systems, Inc., Durant, OK, pp. 100109.
Djursing, H., Petersen, K. and Weberg, E. (1981) Symptomatic postmenopausal endometriosis. Acta Obstet. Gynecol. Scand., 60, 529530.[ISI][Medline]
Doty, D.W., Gruber, J.S., Wolf, G.C. and Winslow, R.C. (1980) 46, XY pure gonadal dysgenesis: report of 2 unusual cases. Obstet. Gynecol., 55, 61S65S.[Medline]
Heaps, J.M., Nieberg, R.K. and Berek, J.S. (1990) Malignant neoplasms arising in endometriosis. Obstet. Gynecol., 75, 10231028.[Abstract]
Kempers, R.D., Dockerty, M.B., Hunt, A.B. and Symmonds, R.E. (1960) Significant postmenopausal endometriosis. Surg. Gynecol. Obstet., 111, 348356.[ISI]
Laufer, M.R. (2000) Premenarcheal endometriosis without an associated obstructive anomaly: presentation, diagnosis, and treatment. Fertil. Steril., 74 (Suppl.3), S15.
Manson, J.E. and Martin K.A. (2001) Postmenopausal hormone replacement therapy. New Engl. J. Med., 345, 3440.
Meinen, K., Crusius, M. and Schulz, U. (1989) Turner-Syndrom mit peritoneal-endometriose and aszitestherapeutische Effekte der Buserelin-Therapie. Arch. Gynecol. Obstet., 245, 943945.[Medline]
Oliker, A.J. and Harris, A.E. (1971) Endometriosis of the bladder in a male patient. J. Urol., 106, 858859.[ISI][Medline]
Olive, D.L. and Schwartz, L.B. (1993) Endometriosis. New Engl. J. Med., 328, 17591769.
Peress, M.R., Sosnowski, J.R., Mathur, R.S. and Williamson, S.O. (1982) Pelvic endometriosis and Turners syndrome. Am. J. Obstet. Gynecol., 144, 474476.[ISI][Medline]
Pinkert, T.C., Catlow, C.E. and Straus, R. (1979) Endometriosis of the urinary bladder in a man with prostatic carcinoma. Cancer, 43, 15621567.[ISI][Medline]
Rosenfeld, D.L. and Lecher, B.D. (1981) Endometriosis in a patient with RokitanskyKusterHauser syndrome. Am. J. Obstet. Gynecol., 139, 105.[ISI][Medline]
Rosenfeld R.G., Attie K.M., Frane, J., Brasel, J.A., Burstein, S., Cara, J.F., Chernausek, S., Gotlin, R.W., Kuntze, J., Lippe, B.M. et al. (1998) Growth hormone therapy of Turners syndrome: beneficial effect on adult height. J. Pediatr., 132, 319324.[ISI][Medline]
Rosenfield, R.L., Perovic, N., Devine, N., Mauras, N., Moshang, T., Root, A.W. and Sy, J.P. (1998) Optimizing estrogen replacement treatment in Turner syndrome. Pediatrics, 102, 486488.
Saenger, P. (1996) Turners syndrome. New Engl. J. Med., 335, 17491754.
Sampson, J.A. (1927) Peritoneal endometriosis due to the menstrual dissemination of endometrial tissue to the peritoneal cavity. Am. J. Obstet. Gynecol., 14, 422426.
Submitted on November 30, 2001; resubmitted on May 29, 2002; accepted on July 23, 2002.