Journal of Obstetrics and Gynaecology, August 2014; 34: 539–546 © 2014 Informa UK, Ltd. ISSN 0144-3615 print/ISSN 1364-6893 online
GYNAECOLOGY CASE REPORTS
Torsioned extraovarian thecoma E.
Kurtoglu1,
A.
Kokcu1,
M. Tosun1
& M.
Kefeli2
Departments of 1Obstetrics and Gynecology and 2Pathology, School of Medicine, University of Ondokuz Mayis, Samsun, Turkey DOI: 10.3109/01443615.2014.903909
J Obstet Gynaecol Downloaded from informahealthcare.com by Nyu Medical Center on 06/23/15 For personal use only.
Correspondence: A. Kokcu, Department of Obstetrics and Gynecology, School of Medicine, University of Ondokuz Mayis, 55139 Samsun, Turkey. E-mail: [email protected]
Introduction Thecomas, alone or in the form of fibrothecoma, exceedingly rarely develop in an extraovarian location, such as broad ligament and retroperitoneum but the aetiopathogenesis remains unknown (Merino et al. 1980). We searched the PubMed/Medline databases for the previous case reports, using the key words ‘extraovarian thecoma’ and ‘torsion’. We did not find a case report of the torsion of an extraovarian thecoma. We present here a case of extraovarian thecoma torsion. To the best of our knowledge, this is the second case report of pure extraovarian thecoma, originated from the broad ligament, and the first case report of torsioned extraovarian thecoma.
Case report A 32-year-old woman presented with left lower abdominal quadrant pain. The patient had a history of sudden onset and progressive abdominal pain for 2 days. On physical examination, there was rebound tenderness in her left lower abdominal quadrant and a mobile, painful solid mass was palpable in the suprapubic region. Pelvic examination revealed minimal vaginal bleeding and tender left adnexa. Laboratory findings were within normal limits. Transvaginal ultrasonography revealed a solid homogenic mass measuring 113 ⫻ 80 mm located in the Douglas pouch, and bilateral normal adnexa. At exploratory laparotomy, twice torsion of a solid firm mass with a pedicle arising from the left broad ligament was found (Figure 1). The uterus and bilateral ovaries were unremarkable. The mass was totally removed, being cut from torsioned pedicle. On histopathological examination, it was seen that the mass was composed of sheets and nodular aggregates of ill-defined, oval–round cells. There were hyaline plaques in some areas. Some tumour cells had pale cytoplasm containing lipid. Oil Red O stain demonstrated intracytoplasmic lipids. The final diagnosis was thecoma.
Discussion Thecomas can occur at any age, although they are most commonly found in postmenopausal women. They account for only 2% of all ovarian tumours and may not be a true neoplasm but instead, a condition of hyperplasia of the cortical stroma. Histologically, the mass is filled with lipid-containing cells that are similar to theca cells, and the tumour is known to produce oestrogen (Tzadik et al. 2007). Many women with a thecoma present with abnormal or postmenopausal uterine bleeding; some present with an endometrial adenocarcinoma as a result of unopposed oestrogen production by the tumour (Cass and Karlan 2008). Our presented case did not have abnormal uterine bleeding. In order to accept a lesion as a primary broad ligament tumour, the ipsilateral ovary must appear normal with intact cortex, where normal tissue exists between the ovary and the tumour. The aetiology of how a fibrothecoma or thecoma develops in an extraovarian location is unknown and its histogenesis remains speculative. These tumours may represent a neoplastic change in dysgenetic theca cells trapped during fetal life, or they may originate from accessory or supernumerary ovarian tissue (Lin et al. 1987). There are two types of heterotopic ovarian tissues: (a) the accessory ovary, which is connected to, or lies close to, the orthotopic ovary and arises from the same primordium; (b) the supernumerary ovary, which is a third ovary located at a distance from the bed and arises from a separate angle. Other possibilities include derivation from Müllerian rests or from the mesothelium (Honore and Barr 1985; Roberts et al. 2012). Histologically, the differential diagnosis of a thecoma includes leiomyoma, the most frequently encountered mesenchymal tumour of the broad ligament. Leiomyomas may originate from smooth muscle cells found in small numbers between layers of the ligament, or may represent parasitised uterine fibroids. The characteristic whorled pattern, pathognomonic of smooth muscle with trichrome stains, absence of lipid and no function of endocrine activity can distinguish leiomyoma from thecoma (Lin et al. 1987). To date, in the literature of English language, the three cases of extraovarian fibrothecoma and only one case of pure extraovarian thecoma have been reported (Honore and Barr 1985; Lin et al. 1987; Merino et al. 1980; Roberts et al. 2012). In 1987, Lin et al. reported a case of extraovarian hormone-producing thecoma, originated from the broad ligament. Since then, a report of extraovarian thecoma does not exist in the literature. Similarly, a case report of torsioned extraovarian thecoma does not exist. The preoperative diagnosis of our patient was of ovarian cyst torsion. Because the patient had acute abdominal pain, her hormonal and CA125 measurements were not performed. Both thecomas and fibrothecomas are often diagnosed intraoperatively and total surgical resection is preferred as the optimal treatment. MRI features of ovarian fibromas and fibrothecomas depend on size, with capsule and degenerative changes common with fibromas and fibrothecomas larger than 6 cm. It is difficult to approach a definite diagnosis of ovarian thecoma preoperatively, not to mention diagnosis of an extraovarian thecoma (Lin et al. 1987; Shinagare et al. 2012). The present case, in terms of being the first in the literature, was considered to be worthy of publication. Declaration of interest: The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.
References
Figure 1. At laparotomy, the gross appearance of torsioned extraovarian thecoma.
Cass I, Karlan BY. 2008. Ovarian and tubal cancers. In: Gibbs RS, Karlan BY, Haney AF et al., editors. Danforth’s obstetrics and gynecology. Philadelphia: Lippincott Williams and Wilkins. p 1022–1060. Honore LH, Barr JS. 1985. Cul de sac fibrothecoma simulating a parasitic fibroid. Australian and New Zealand Journal of Obstetrics and Gynaecology 25:136–138.
540
Gynaecology Case Reports
Lin HH, Chen YP, Lee TY. 1987. A hormone-producing thecoma of broad ligament. Acta Obstetricia et Gynecologica Scandinavica 66:725–727. Merino MJ, LiVolsi VA, Trepeta RW. 1980. Fibrothecoma of the broad ligament. Diagnostic Gynecology and Obstetrics 2:51–54. Roberts P, Nofech-Mozes S, Coburn N et al. 2012. Retroperitoneal extraovarian fibrothecoma mimicking a malignant epithelial ovarian carcinoma. Case Reports in Obstetrics and Gynecology 2012:281745. Shinagare AB, Meylaerts LJ, Laury AR et al. 2012. MRI features of ovarian fibroma and fibrothecoma with histopathologic correlation. American Journal of Roentgenology 198:W296–W303. Tzadik M, Purcell K, Wheeler JE. 2007. Benign disorders of the ovaries and oviducts. In: DeCherney AH, Nathan L, Goodwin TM, Laufer N, editors. Current Diagnosis and Treatment in Obstetrics and Gynecology. Philadelphia: McGraw-Hill. p 654–661.
J Obstet Gynaecol Downloaded from informahealthcare.com by Nyu Medical Center on 06/23/15 For personal use only.
Familial Swyer syndrome in two sisters with undeveloped uterus S. Ates, G. Batmaz, O. Sevket, T. Molla & B. Dane Department of Obstetrics and Gynecology, Faculty of Medicine, Bezmialem Vakif University, Istanbul, Turkey DOI: 10.3109/01443615.2014.911830 Correspondence: S. Ates, Bezialem Vakif University, Adnan Menderes Bul. Vatan Cad. Fatih, Istanbul, Turkey. E-mail: [email protected]
Introduction Swyer syndrome is characterised by 46,XY karyotype and a female phenotype with normally developed Müllerian ducts, streak gonads, minimal breast enlargement, elevated gonadotropins, low levels of oestrogens, normal levels of androgens and primary amenorrhoea. Here we present two sisters with complete gonadal dysgenesis, one of which remained amenorrheic, despite the oestrogen treatment.
Case report A 20-year-old female was admitted to our clinic with the complaining of absence of menstrual bleeding and growth retardation of secondary sex characteristics. She first presented with primary amenorrhoea at age 16 years to a different clinic. Her serum FSH level was 193 mIU/ml, LH level was 54 mIU/ ml; her E2⬍ 20 pg/ml. She was given cyclic hormone therapy and responded well to the treatment with menstrual withdrawal bleeding. On physical examination, she had Tanner stage 2 breast development, a normal vagina with Tanner stage 4 pubic hair development. Genetic analysis revealed her karyotype to be 46,XY and after microdeletion studies of AZF (SY81, SY86, SY84, SY182, SY121, SYPR3, SY124, SY127, SY128, SY130, SY133, SY134, SY145, SY152, SY242, SY208, SY254, SY255, SY157) and SRY (SY14) gene, no mutation was identified. Preoperative pelvic ultrasound revealed a hypoplastic uterus, which was 3.1 ⫻ 5.2 ⫻ 2.50 cm in diameter, and pelvic magnetic resonance (MR) imaging demonstrated that uterus size was smaller than normal. We performed laparoscopic bilateral gonadectomy. During the operation, we observed bilateral, elongated, ‘streak’ gonads and a
small uterus. Pathology revealed atrophic ovarian tissue with diffuse cortical fibrosis (Figure 1). Her sister had been diagnosed as having pure gonadal dysgenesis at the age of 15. At the time of presentation to our clinic, she was a 26-year-old woman with primary amenorrhoea. Her laboratory studies showed FSH level of 87 mUI/lt, LH of 17.7 mUI/ml and E2 level of 20 pg/ml. The development of secondary sexual characteristics was halted in breasts with Tanner 2 and pubic hair growth with Tanner 3 staging. She was given cyclic hormonal therapy but no menstrual withdrawal bleeding was seen. On her genetic analysis, her karyotype was found as 46,XY but no mutation was observed in the SRY gene. Laparoscopic bilateral gonadectomy was performed 9 years ago. A hypoplastic uterus was reported to be seen during the operation. Her pathology was reported as atrophic ovarian tissue with diffuse fibrosis (streak gonad).
Discussion Pure gonadal dysgenesis is thought to be the result of a deletion in the short arm of Y chromosome involving SRY gene or a mutation in other genes that leads to inhibition of SRY function (Behzadian et al. 1991). XY gonadal dysgenesis can be inherited as autosomal or X-linked disorder. Familial cases of Swyer syndrome have also been described (Sarafoglou and Ostrer 2000; Bagci et al. 2011). An interesting finding in our cases was that one sister responded to treatment with hormone therapy with menstrual bleeds but that the other did not. The hypoplastic size of uterus in Swyer syndrome can be explained by inherent factors, by deficiencies in the management of women with delayed puberty in terms of timing and method of induction of puberty (Michala et al. 2008) or by the insufficient function of prenatal anti-Müllerian hormone due to testicular failure (Kahyaoglu et al. 2006). Hormonal replacement therapy has to be given to promote the development of secondary sexual characteristics and, probably, stimulate the growth of the uterus for an eventual pregnancy (Hétu et al. 2010). Pregnancies in women diagnosed with Swyer syndrome have been reported in the literature (Tulic et al. 2011; Creatsas et al. 2011) and this has shown that normal pregnancies can be achieved with the help of artificial reproductive techniques, despite the undeveloped structure of uterus. Adoption and surrogacy is another option in having children with these patients. Furthermore in future, possible uterine transplantation may become an option in these women for whom adoption or gestational surrogacy is restricted for personal, societal or religious reasons. Declaration of interest: The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.
References Bagci G, Bisgin A, Karauzum SB et al. 2011. Complete gonadal dysgenesis 46,XY (Swyer syndrome) in two sisters and their mother’s maternal aunt with a female phenotype. Fertility and Sterility 95:1786.e1–e3.
Figure 1. (A) The clamps of Leydig cells (H&E, ⫻ 600). (B) A narrow zone of ovarian stroma (H&E, ⫻ 40).
GYNAECOLOGY CASE REPORTS
Torsioned extraovarian thecoma E.
Kurtoglu1,
A.
Kokcu1,
M. Tosun1
& M.
Kefeli2
Departments of 1Obstetrics and Gynecology and 2Pathology, School of Medicine, University of Ondokuz Mayis, Samsun, Turkey DOI: 10.3109/01443615.2014.903909
J Obstet Gynaecol Downloaded from informahealthcare.com by Nyu Medical Center on 06/23/15 For personal use only.
Correspondence: A. Kokcu, Department of Obstetrics and Gynecology, School of Medicine, University of Ondokuz Mayis, 55139 Samsun, Turkey. E-mail: [email protected]
Introduction Thecomas, alone or in the form of fibrothecoma, exceedingly rarely develop in an extraovarian location, such as broad ligament and retroperitoneum but the aetiopathogenesis remains unknown (Merino et al. 1980). We searched the PubMed/Medline databases for the previous case reports, using the key words ‘extraovarian thecoma’ and ‘torsion’. We did not find a case report of the torsion of an extraovarian thecoma. We present here a case of extraovarian thecoma torsion. To the best of our knowledge, this is the second case report of pure extraovarian thecoma, originated from the broad ligament, and the first case report of torsioned extraovarian thecoma.
Case report A 32-year-old woman presented with left lower abdominal quadrant pain. The patient had a history of sudden onset and progressive abdominal pain for 2 days. On physical examination, there was rebound tenderness in her left lower abdominal quadrant and a mobile, painful solid mass was palpable in the suprapubic region. Pelvic examination revealed minimal vaginal bleeding and tender left adnexa. Laboratory findings were within normal limits. Transvaginal ultrasonography revealed a solid homogenic mass measuring 113 ⫻ 80 mm located in the Douglas pouch, and bilateral normal adnexa. At exploratory laparotomy, twice torsion of a solid firm mass with a pedicle arising from the left broad ligament was found (Figure 1). The uterus and bilateral ovaries were unremarkable. The mass was totally removed, being cut from torsioned pedicle. On histopathological examination, it was seen that the mass was composed of sheets and nodular aggregates of ill-defined, oval–round cells. There were hyaline plaques in some areas. Some tumour cells had pale cytoplasm containing lipid. Oil Red O stain demonstrated intracytoplasmic lipids. The final diagnosis was thecoma.
Discussion Thecomas can occur at any age, although they are most commonly found in postmenopausal women. They account for only 2% of all ovarian tumours and may not be a true neoplasm but instead, a condition of hyperplasia of the cortical stroma. Histologically, the mass is filled with lipid-containing cells that are similar to theca cells, and the tumour is known to produce oestrogen (Tzadik et al. 2007). Many women with a thecoma present with abnormal or postmenopausal uterine bleeding; some present with an endometrial adenocarcinoma as a result of unopposed oestrogen production by the tumour (Cass and Karlan 2008). Our presented case did not have abnormal uterine bleeding. In order to accept a lesion as a primary broad ligament tumour, the ipsilateral ovary must appear normal with intact cortex, where normal tissue exists between the ovary and the tumour. The aetiology of how a fibrothecoma or thecoma develops in an extraovarian location is unknown and its histogenesis remains speculative. These tumours may represent a neoplastic change in dysgenetic theca cells trapped during fetal life, or they may originate from accessory or supernumerary ovarian tissue (Lin et al. 1987). There are two types of heterotopic ovarian tissues: (a) the accessory ovary, which is connected to, or lies close to, the orthotopic ovary and arises from the same primordium; (b) the supernumerary ovary, which is a third ovary located at a distance from the bed and arises from a separate angle. Other possibilities include derivation from Müllerian rests or from the mesothelium (Honore and Barr 1985; Roberts et al. 2012). Histologically, the differential diagnosis of a thecoma includes leiomyoma, the most frequently encountered mesenchymal tumour of the broad ligament. Leiomyomas may originate from smooth muscle cells found in small numbers between layers of the ligament, or may represent parasitised uterine fibroids. The characteristic whorled pattern, pathognomonic of smooth muscle with trichrome stains, absence of lipid and no function of endocrine activity can distinguish leiomyoma from thecoma (Lin et al. 1987). To date, in the literature of English language, the three cases of extraovarian fibrothecoma and only one case of pure extraovarian thecoma have been reported (Honore and Barr 1985; Lin et al. 1987; Merino et al. 1980; Roberts et al. 2012). In 1987, Lin et al. reported a case of extraovarian hormone-producing thecoma, originated from the broad ligament. Since then, a report of extraovarian thecoma does not exist in the literature. Similarly, a case report of torsioned extraovarian thecoma does not exist. The preoperative diagnosis of our patient was of ovarian cyst torsion. Because the patient had acute abdominal pain, her hormonal and CA125 measurements were not performed. Both thecomas and fibrothecomas are often diagnosed intraoperatively and total surgical resection is preferred as the optimal treatment. MRI features of ovarian fibromas and fibrothecomas depend on size, with capsule and degenerative changes common with fibromas and fibrothecomas larger than 6 cm. It is difficult to approach a definite diagnosis of ovarian thecoma preoperatively, not to mention diagnosis of an extraovarian thecoma (Lin et al. 1987; Shinagare et al. 2012). The present case, in terms of being the first in the literature, was considered to be worthy of publication. Declaration of interest: The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.
References
Figure 1. At laparotomy, the gross appearance of torsioned extraovarian thecoma.
Cass I, Karlan BY. 2008. Ovarian and tubal cancers. In: Gibbs RS, Karlan BY, Haney AF et al., editors. Danforth’s obstetrics and gynecology. Philadelphia: Lippincott Williams and Wilkins. p 1022–1060. Honore LH, Barr JS. 1985. Cul de sac fibrothecoma simulating a parasitic fibroid. Australian and New Zealand Journal of Obstetrics and Gynaecology 25:136–138.
540
Gynaecology Case Reports
Lin HH, Chen YP, Lee TY. 1987. A hormone-producing thecoma of broad ligament. Acta Obstetricia et Gynecologica Scandinavica 66:725–727. Merino MJ, LiVolsi VA, Trepeta RW. 1980. Fibrothecoma of the broad ligament. Diagnostic Gynecology and Obstetrics 2:51–54. Roberts P, Nofech-Mozes S, Coburn N et al. 2012. Retroperitoneal extraovarian fibrothecoma mimicking a malignant epithelial ovarian carcinoma. Case Reports in Obstetrics and Gynecology 2012:281745. Shinagare AB, Meylaerts LJ, Laury AR et al. 2012. MRI features of ovarian fibroma and fibrothecoma with histopathologic correlation. American Journal of Roentgenology 198:W296–W303. Tzadik M, Purcell K, Wheeler JE. 2007. Benign disorders of the ovaries and oviducts. In: DeCherney AH, Nathan L, Goodwin TM, Laufer N, editors. Current Diagnosis and Treatment in Obstetrics and Gynecology. Philadelphia: McGraw-Hill. p 654–661.
J Obstet Gynaecol Downloaded from informahealthcare.com by Nyu Medical Center on 06/23/15 For personal use only.
Familial Swyer syndrome in two sisters with undeveloped uterus S. Ates, G. Batmaz, O. Sevket, T. Molla & B. Dane Department of Obstetrics and Gynecology, Faculty of Medicine, Bezmialem Vakif University, Istanbul, Turkey DOI: 10.3109/01443615.2014.911830 Correspondence: S. Ates, Bezialem Vakif University, Adnan Menderes Bul. Vatan Cad. Fatih, Istanbul, Turkey. E-mail: [email protected]
Introduction Swyer syndrome is characterised by 46,XY karyotype and a female phenotype with normally developed Müllerian ducts, streak gonads, minimal breast enlargement, elevated gonadotropins, low levels of oestrogens, normal levels of androgens and primary amenorrhoea. Here we present two sisters with complete gonadal dysgenesis, one of which remained amenorrheic, despite the oestrogen treatment.
Case report A 20-year-old female was admitted to our clinic with the complaining of absence of menstrual bleeding and growth retardation of secondary sex characteristics. She first presented with primary amenorrhoea at age 16 years to a different clinic. Her serum FSH level was 193 mIU/ml, LH level was 54 mIU/ ml; her E2⬍ 20 pg/ml. She was given cyclic hormone therapy and responded well to the treatment with menstrual withdrawal bleeding. On physical examination, she had Tanner stage 2 breast development, a normal vagina with Tanner stage 4 pubic hair development. Genetic analysis revealed her karyotype to be 46,XY and after microdeletion studies of AZF (SY81, SY86, SY84, SY182, SY121, SYPR3, SY124, SY127, SY128, SY130, SY133, SY134, SY145, SY152, SY242, SY208, SY254, SY255, SY157) and SRY (SY14) gene, no mutation was identified. Preoperative pelvic ultrasound revealed a hypoplastic uterus, which was 3.1 ⫻ 5.2 ⫻ 2.50 cm in diameter, and pelvic magnetic resonance (MR) imaging demonstrated that uterus size was smaller than normal. We performed laparoscopic bilateral gonadectomy. During the operation, we observed bilateral, elongated, ‘streak’ gonads and a
small uterus. Pathology revealed atrophic ovarian tissue with diffuse cortical fibrosis (Figure 1). Her sister had been diagnosed as having pure gonadal dysgenesis at the age of 15. At the time of presentation to our clinic, she was a 26-year-old woman with primary amenorrhoea. Her laboratory studies showed FSH level of 87 mUI/lt, LH of 17.7 mUI/ml and E2 level of 20 pg/ml. The development of secondary sexual characteristics was halted in breasts with Tanner 2 and pubic hair growth with Tanner 3 staging. She was given cyclic hormonal therapy but no menstrual withdrawal bleeding was seen. On her genetic analysis, her karyotype was found as 46,XY but no mutation was observed in the SRY gene. Laparoscopic bilateral gonadectomy was performed 9 years ago. A hypoplastic uterus was reported to be seen during the operation. Her pathology was reported as atrophic ovarian tissue with diffuse fibrosis (streak gonad).
Discussion Pure gonadal dysgenesis is thought to be the result of a deletion in the short arm of Y chromosome involving SRY gene or a mutation in other genes that leads to inhibition of SRY function (Behzadian et al. 1991). XY gonadal dysgenesis can be inherited as autosomal or X-linked disorder. Familial cases of Swyer syndrome have also been described (Sarafoglou and Ostrer 2000; Bagci et al. 2011). An interesting finding in our cases was that one sister responded to treatment with hormone therapy with menstrual bleeds but that the other did not. The hypoplastic size of uterus in Swyer syndrome can be explained by inherent factors, by deficiencies in the management of women with delayed puberty in terms of timing and method of induction of puberty (Michala et al. 2008) or by the insufficient function of prenatal anti-Müllerian hormone due to testicular failure (Kahyaoglu et al. 2006). Hormonal replacement therapy has to be given to promote the development of secondary sexual characteristics and, probably, stimulate the growth of the uterus for an eventual pregnancy (Hétu et al. 2010). Pregnancies in women diagnosed with Swyer syndrome have been reported in the literature (Tulic et al. 2011; Creatsas et al. 2011) and this has shown that normal pregnancies can be achieved with the help of artificial reproductive techniques, despite the undeveloped structure of uterus. Adoption and surrogacy is another option in having children with these patients. Furthermore in future, possible uterine transplantation may become an option in these women for whom adoption or gestational surrogacy is restricted for personal, societal or religious reasons. Declaration of interest: The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.
References Bagci G, Bisgin A, Karauzum SB et al. 2011. Complete gonadal dysgenesis 46,XY (Swyer syndrome) in two sisters and their mother’s maternal aunt with a female phenotype. Fertility and Sterility 95:1786.e1–e3.
Figure 1. (A) The clamps of Leydig cells (H&E, ⫻ 600). (B) A narrow zone of ovarian stroma (H&E, ⫻ 40).
