Journal of Obstetrics and Gynaecology
ISSN: 0144-3615 (Print) 1364-6893 (Online) Journal homepage: http://www.tandfonline.com/loi/ijog20
Prenatal ultrasound diagnosis of a fetal testis granulosa cell tumour T. Illescas, R. M. Ibba, M. A. Zoppi, A. Iuculano, R. Contu & G. Monni To cite this article: T. Illescas, R. M. Ibba, M. A. Zoppi, A. Iuculano, R. Contu & G. Monni (2014) Prenatal ultrasound diagnosis of a fetal testis granulosa cell tumour, Journal of Obstetrics and Gynaecology, 34:1, 96-97 To link to this article: http://dx.doi.org/10.3109/01443615.2013.828024
Published online: 20 Dec 2013.
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Date: 05 November 2015, At: 19:56
96
Obstetric Case Reports
Prenatal ultrasound diagnosis of a fetal testis granulosa cell tumour T. Illescas, R. M. Ibba, M. A. Zoppi, A. Iuculano, R. Contu & G. Monni Department of Prenatal Genetic Diagnosis and Fetal Therapy, Ospedale Microcitemico, Cagliari, Italy DOI: 10.3109/01443615.2013.828024 Correspondence: G. Monni, Department of Prenatal Genetic Diagnosis and Fetal Therapy, Ospedale Microcitemico, Via Edward Jenner 09121, Cagliari, Italy. E-mail: [email protected]
Downloaded by [University of California Santa Barbara] at 19:56 05 November 2015
Introduction Figure 5. Value of β-hCG and diameter of gestational sac during the treatment and in the following days in case 2.
awareness of dangerous complications must be taken into account and physicians should be aware that the presence of a surgeon to expedite non-invasive surgery is essential for fertility outcome. The present report underlines an integrated approach in diagnosis, multidose treatment and close follow-up, which are essential forms of management in this rare occurrence. Furthermore, these pathological conditions require a high index of suspicion, due to frequently misdiagnosis. Hospitalisation is necessary for patients whose condition is unstable, in cases of diagnostic uncertainty and when non-surgical treatment is attempted in case of high values of β-hCG. Finally, the efficacy of medical treatment after a prompt diagnosis, in our experience, is confirmed not only by immediate results in terms of resolution without complication, but also by long-term results confirmed by instrumental procedure, avoiding in this manner the risk of recurrences. Careful antenatal surveillance with a planned caesarean delivery at term should be the safest approach for subsequent pregnancies. Declaration of interest: The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.
References Ackerman TE, Levi CS, Dashefsky SM, Holt SC, Lindsay DJ. 1993. Interstitial line: sonographic finding in interstitial (cornual) ectopic pregnancy. Radiology 189:83–87. Barnhart KT. 2012. Early pregnancy failure: beware of the pitfalls of modern management. Fertility and Sterility 98:1061–1065. Damario MA, Rock JA. 2003. Ectopic pregnancy. In: Rock JA, Jones HW 3rd, editors. Te Linde’s operative gynecology. Philadelphia: Lippincott, Williams & Wilkins. p 507–536. Dialani V, Levine D. 2004. Ectopic pregnancy: a review. Ultrasound Quarterly 20:105–117. Dilbaz S, Katas B, Demir B, Dilbaz B. 2005. Treating cornual pregnancy with a single methotrexate injection: a report of 3 cases. Journal of Reproductive Medicine 50:141–144. Doubilet P, Benson CB. 2003. Atlas of ultrasound in obstetrics and gynecology: a multimedia reference. Philadelphia: Lippincott, Williams & Wilkins. Moawad NS, Mahajan ST, Moniz MH, Taylor SE, Hurd WW. 2010. Current diagnosis and treatment of interstitial pregnancy. American Journal of Obstetrics and Gynecology 202:15–29. Stovall TG, Ling FW. 1993. Single-dose methotrexate: an expanded clinical trial. American Journal of Obstetrics and Gynecology 168:1759–1762. Tulandi T, Al-Jaroudi D. 2004. Interstitial pregnancy: results generated from the Society of Reproductive Surgeons Registry. Obstetrics and Gynecology 103:47–45. Walker JJ. 2007. Ectopic pregnancy. Clinical Obstetrics and Gynecology 50:89–99. Walsen O. 1957. Interstitial pregnancy in the fifth month of pregnancy with fatal rupture of the uterus. Medizinische Klinik (Munich) 52: 2250–2253.
Normally, by the 5th month of pregnancy, the fetal testes lie close to the deep inguinal ring and begin to descend to the scrotum during the 7th month. The testicles should be found in the scrotal sac at 36 weeks’ gestation and it is at this stage, we can search for pathology through the examination of the scrotal sac. Cryptorchidism is a common finding in full-term newborns, with a reported rate of 3.4% (Shih et al. 1997). Scrotal masses detected prenatally are rare entities with the exception of hydrocoele. Tumours are considered congenital when found up to the first 3 months of life, accounting for ⬍ 2% of all paediatric tumours. The most frequent type is extracranial teratoma (mainly sacrococcygeal) (Alamo et al. 2011). We present here a case of a fetal scrotal tumour, diagnosed and followed in Ospedale Microcitemico, Cagliari, Italy.
Case report A healthy 32-year-old woman, gravida 1 para 0, had a normal singleton low-risk pregnancy until the 3rd trimester. At 36 weeks, she was referred to our Centre for evaluation of a non-reassuring image in the fetal left testicle found during a routine fetal growth scan. We confirmed the presence of an increased-sized left testicle (2 ⫻ 2.5 ⫻ 3 cm) with a heterogeneous image, with little sonolucent areas, scarce blood flow with Doppler and no evidence of peristaltic movements inside (Figures 1 and 2). The right testicle was homogeneous and 1.5 ⫻ 1 cm in size. There were no signs of intestinal obstruction or ascites. No other fetal abnormalities were found and the biometry was appropriated for gestational age. The diagnostic possibilities stated were: scrotal tumour (teratoma), inguinoscrotal hernia and testicular torsion. During the next 2 weeks, the mass remained stable in size and blood flow pattern (showing arterial and venous flow). 3D-volumes were acquired and assessed but they did not add any significant information to the diagnosis (Figure 3). The patient had an uneventful vaginal delivery at 38 ⫹ 2 weeks’ gestation. A male weighing 3,710 g was born. The ultrasonographic prenatal finding was then confirmed by magnetic resonance image (MRI, Figure 4) to be a testicular tumour and the baby was referred to the paediatric oncologists. Two months after birth, a radical orchiectomy was performed. Pathological examination showed a juvenile granulosa cell tumour.
Discussion The differential diagnosis of a fetal scrotal mass includes: • Hydrocoele: The most common diagnosis of a fetal scrotal mass and the ultrasound characteristic of this condition is the appearance of an anechoic collection of fluid surrounding an easily recognisable testis (Pretorius et al. 1998). • Inguinoscrotal hernia: Fetal inguinal hernia is rarely diagnosed because the gradient of intra-abdominal pressure usually rises only after birth. The key finding for the diagnosis consists of peristaltic waves and loops of small bowel trapped in the scrotum, with blood flow visible on coloor Doppler imaging of the scrotal mass (Frati et al. 2008). • Testicular torsion: Appears as an enlarged testis with an echogenic rim and heterogeneous parenchyma, surrounded by haemorrhagic
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Obstetric Case Reports 97
Figure 1. Ultrasonographic depiction of fetal testes, showing increased size of the left testicle with a heterogeneous parenchyma.
fluid in two concentric departments, separated by the parietal layer of the tunica vaginalis (‘double-ring haemorrhage’ image). Absence of testicular flow on colour Doppler examination on the affected side can be of help, although the flow pattern is not completely reliable in those cases (Herman et al. 2002). • Testicular tumour: This is an extremely rare condition in neonates. The most frequent type is teratoma, which usually presents with a circumscribed lesion located in the lower abdomen, near the urinary bladder, with both cystic and solid components that resemble the ultrasonographic image of an ovarian dermoid cyst; the testis is not found in the scrotal sac (Frati et al. 2008). In our case, hydrocoele was ruled out easily, since the characteristics of the image were clearly different from that of this frequent entity. The other three possibilities should be taken into account, although inguinoscrotal hernia was unlikely, given that there was no evidence of peristalsis inside the mass and no signs of intestinal obstruction.
Testicular torsion was not a probablity either, because we could not see the double-ring image. In the cases reported in the literature, usually fetal testicular teratomas appear on ultrasound as a heterogeneous intra-abdominal mass (Shih et al. 1997), although some cases in descended testis have also been published (Tamada et al. 1997). This fact, along with the higher prevalence of teratoma with respect to other neoplasms, made us think of it as the most likely type of tumour. The juvenile granulosa cell tumour is a rare, benign form of sexcord stromal tumour and it is much more frequent in the ovary than in the testis. It has been described in testicles affected either by cryptorchidism or mixed gonadal dysgenesis and also associated with neonatal torsion. It accounts for 1–5% of all prepuberal tumours (Peterson and Skoog 2008). It is usually diagnosed in the first year of life, which makes a hypothesis of intrauterine tumorigenesis quite possible (Bryan et al. 2003; Lawrence et al. 1985). Treatment consists of orchidectomy.
Figure 2. Colour Doppler shows scarce blood flow in the scrotal mass.
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Figure 3. 3D-rendered image of the fetal scrotal sac and the penis, showing the homogeneous testicle on the right and the heterogeneous tumour on the left.
Figure 4. Postnatal MRI with contrast (T2 sequence) confirms the prenatal diagnosis of testicular tumour in the newborn.
To our knowledge, there are only two papers related to the prenatal diagnosis of this tumour in the testes (Peterson and Skoog 2008; Bryan et al. 2003), in one of which the prenatal image was retrospectively confirmed (Bryan et al. 2003). Declaration of interest: The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.
Pretorius DH, Halsted MJ, Abels W et al. 1998. Hydroceles identified prenatally: common physiologic phenomenon? Journal of Ultrasound in Medicine 17: 49–52. Shih HH, Teng RJ, Yau KI et al. 1997. Mature teratoma arising from an intra-abdominal undescended testis presenting as a fetal abdominal mass. Ultrasound in Obstetrics and Gynecology 10:209–211. Tamada H, Kanai H, Sakuma Y et al. 1997. A case of infant testicular tumor diagnosed ultrasonographically in the prenatal period. Hinyokika Kiyo (Acta Urologica Japonica) 43:517–520.
References Alamo L, Beck-Popovic M, Gudinchet F et al. 2011. Congenital tumours: Imaging when life just begins. Insights Imaging 2:297–308. Bryan DE, Cain MP, Casale AJ. 2003. Juvenile granulosa-theca cell (sex cordstromal) tumor of the infant testis. Journal of Urology 169:1497–1498. Frati A, Ducarme G, Vuillard E et al. 2008. Prenatal evaluation of a scrotal mass using a high-frequency probe in the diagnosis of inguinoscrotal hernia. Ultrasound in Obstetrics and Gynecology 32:949–950. Herman A, Schvimer M, Tovbin J et al. 2002. Antenatal sonographic diagnosis of testicular torsion. Ultrasound in Obstetrics and Gynecology 20: 522–524. Lawrence WD, Young RH, Scully RE. 1985. Juvenile granulosa cell tumor of the infantile testis. A report of 14 cases. American Journal of Surgical Pathology 9:87–94. Peterson C, Skoog S. 2008. Prenatal diagnosis of juvenile granulosa cell tumor of the testis. Journal of Pediatric Urology 4:472–474.
Pregnancy in Alport syndrome: A report of two differently-evolving cases M. Alessi1, A. Fabris2, A. Zambon2, D. Cremasco1, E. Muraro1, L. Dosa3, F. Anglani1 & D. Del Prete1,4 1Nephrology Unit, 2Obstetric Unit, Department of Medicine,
University of Padua, 3Medical Genetic Section, University of Siena and 4Kidney and Pregnancy Study Group of SIN (Italian Society of Nephrology), Italy DOI: 10.3109/01443615.2013.834299
ISSN: 0144-3615 (Print) 1364-6893 (Online) Journal homepage: http://www.tandfonline.com/loi/ijog20
Prenatal ultrasound diagnosis of a fetal testis granulosa cell tumour T. Illescas, R. M. Ibba, M. A. Zoppi, A. Iuculano, R. Contu & G. Monni To cite this article: T. Illescas, R. M. Ibba, M. A. Zoppi, A. Iuculano, R. Contu & G. Monni (2014) Prenatal ultrasound diagnosis of a fetal testis granulosa cell tumour, Journal of Obstetrics and Gynaecology, 34:1, 96-97 To link to this article: http://dx.doi.org/10.3109/01443615.2013.828024
Published online: 20 Dec 2013.
Submit your article to this journal
Article views: 33
View related articles
View Crossmark data
Full Terms & Conditions of access and use can be found at http://www.tandfonline.com/action/journalInformation?journalCode=ijog20 Download by: [University of California Santa Barbara]
Date: 05 November 2015, At: 19:56
96
Obstetric Case Reports
Prenatal ultrasound diagnosis of a fetal testis granulosa cell tumour T. Illescas, R. M. Ibba, M. A. Zoppi, A. Iuculano, R. Contu & G. Monni Department of Prenatal Genetic Diagnosis and Fetal Therapy, Ospedale Microcitemico, Cagliari, Italy DOI: 10.3109/01443615.2013.828024 Correspondence: G. Monni, Department of Prenatal Genetic Diagnosis and Fetal Therapy, Ospedale Microcitemico, Via Edward Jenner 09121, Cagliari, Italy. E-mail: [email protected]
Downloaded by [University of California Santa Barbara] at 19:56 05 November 2015
Introduction Figure 5. Value of β-hCG and diameter of gestational sac during the treatment and in the following days in case 2.
awareness of dangerous complications must be taken into account and physicians should be aware that the presence of a surgeon to expedite non-invasive surgery is essential for fertility outcome. The present report underlines an integrated approach in diagnosis, multidose treatment and close follow-up, which are essential forms of management in this rare occurrence. Furthermore, these pathological conditions require a high index of suspicion, due to frequently misdiagnosis. Hospitalisation is necessary for patients whose condition is unstable, in cases of diagnostic uncertainty and when non-surgical treatment is attempted in case of high values of β-hCG. Finally, the efficacy of medical treatment after a prompt diagnosis, in our experience, is confirmed not only by immediate results in terms of resolution without complication, but also by long-term results confirmed by instrumental procedure, avoiding in this manner the risk of recurrences. Careful antenatal surveillance with a planned caesarean delivery at term should be the safest approach for subsequent pregnancies. Declaration of interest: The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.
References Ackerman TE, Levi CS, Dashefsky SM, Holt SC, Lindsay DJ. 1993. Interstitial line: sonographic finding in interstitial (cornual) ectopic pregnancy. Radiology 189:83–87. Barnhart KT. 2012. Early pregnancy failure: beware of the pitfalls of modern management. Fertility and Sterility 98:1061–1065. Damario MA, Rock JA. 2003. Ectopic pregnancy. In: Rock JA, Jones HW 3rd, editors. Te Linde’s operative gynecology. Philadelphia: Lippincott, Williams & Wilkins. p 507–536. Dialani V, Levine D. 2004. Ectopic pregnancy: a review. Ultrasound Quarterly 20:105–117. Dilbaz S, Katas B, Demir B, Dilbaz B. 2005. Treating cornual pregnancy with a single methotrexate injection: a report of 3 cases. Journal of Reproductive Medicine 50:141–144. Doubilet P, Benson CB. 2003. Atlas of ultrasound in obstetrics and gynecology: a multimedia reference. Philadelphia: Lippincott, Williams & Wilkins. Moawad NS, Mahajan ST, Moniz MH, Taylor SE, Hurd WW. 2010. Current diagnosis and treatment of interstitial pregnancy. American Journal of Obstetrics and Gynecology 202:15–29. Stovall TG, Ling FW. 1993. Single-dose methotrexate: an expanded clinical trial. American Journal of Obstetrics and Gynecology 168:1759–1762. Tulandi T, Al-Jaroudi D. 2004. Interstitial pregnancy: results generated from the Society of Reproductive Surgeons Registry. Obstetrics and Gynecology 103:47–45. Walker JJ. 2007. Ectopic pregnancy. Clinical Obstetrics and Gynecology 50:89–99. Walsen O. 1957. Interstitial pregnancy in the fifth month of pregnancy with fatal rupture of the uterus. Medizinische Klinik (Munich) 52: 2250–2253.
Normally, by the 5th month of pregnancy, the fetal testes lie close to the deep inguinal ring and begin to descend to the scrotum during the 7th month. The testicles should be found in the scrotal sac at 36 weeks’ gestation and it is at this stage, we can search for pathology through the examination of the scrotal sac. Cryptorchidism is a common finding in full-term newborns, with a reported rate of 3.4% (Shih et al. 1997). Scrotal masses detected prenatally are rare entities with the exception of hydrocoele. Tumours are considered congenital when found up to the first 3 months of life, accounting for ⬍ 2% of all paediatric tumours. The most frequent type is extracranial teratoma (mainly sacrococcygeal) (Alamo et al. 2011). We present here a case of a fetal scrotal tumour, diagnosed and followed in Ospedale Microcitemico, Cagliari, Italy.
Case report A healthy 32-year-old woman, gravida 1 para 0, had a normal singleton low-risk pregnancy until the 3rd trimester. At 36 weeks, she was referred to our Centre for evaluation of a non-reassuring image in the fetal left testicle found during a routine fetal growth scan. We confirmed the presence of an increased-sized left testicle (2 ⫻ 2.5 ⫻ 3 cm) with a heterogeneous image, with little sonolucent areas, scarce blood flow with Doppler and no evidence of peristaltic movements inside (Figures 1 and 2). The right testicle was homogeneous and 1.5 ⫻ 1 cm in size. There were no signs of intestinal obstruction or ascites. No other fetal abnormalities were found and the biometry was appropriated for gestational age. The diagnostic possibilities stated were: scrotal tumour (teratoma), inguinoscrotal hernia and testicular torsion. During the next 2 weeks, the mass remained stable in size and blood flow pattern (showing arterial and venous flow). 3D-volumes were acquired and assessed but they did not add any significant information to the diagnosis (Figure 3). The patient had an uneventful vaginal delivery at 38 ⫹ 2 weeks’ gestation. A male weighing 3,710 g was born. The ultrasonographic prenatal finding was then confirmed by magnetic resonance image (MRI, Figure 4) to be a testicular tumour and the baby was referred to the paediatric oncologists. Two months after birth, a radical orchiectomy was performed. Pathological examination showed a juvenile granulosa cell tumour.
Discussion The differential diagnosis of a fetal scrotal mass includes: • Hydrocoele: The most common diagnosis of a fetal scrotal mass and the ultrasound characteristic of this condition is the appearance of an anechoic collection of fluid surrounding an easily recognisable testis (Pretorius et al. 1998). • Inguinoscrotal hernia: Fetal inguinal hernia is rarely diagnosed because the gradient of intra-abdominal pressure usually rises only after birth. The key finding for the diagnosis consists of peristaltic waves and loops of small bowel trapped in the scrotum, with blood flow visible on coloor Doppler imaging of the scrotal mass (Frati et al. 2008). • Testicular torsion: Appears as an enlarged testis with an echogenic rim and heterogeneous parenchyma, surrounded by haemorrhagic
Downloaded by [University of California Santa Barbara] at 19:56 05 November 2015
Obstetric Case Reports 97
Figure 1. Ultrasonographic depiction of fetal testes, showing increased size of the left testicle with a heterogeneous parenchyma.
fluid in two concentric departments, separated by the parietal layer of the tunica vaginalis (‘double-ring haemorrhage’ image). Absence of testicular flow on colour Doppler examination on the affected side can be of help, although the flow pattern is not completely reliable in those cases (Herman et al. 2002). • Testicular tumour: This is an extremely rare condition in neonates. The most frequent type is teratoma, which usually presents with a circumscribed lesion located in the lower abdomen, near the urinary bladder, with both cystic and solid components that resemble the ultrasonographic image of an ovarian dermoid cyst; the testis is not found in the scrotal sac (Frati et al. 2008). In our case, hydrocoele was ruled out easily, since the characteristics of the image were clearly different from that of this frequent entity. The other three possibilities should be taken into account, although inguinoscrotal hernia was unlikely, given that there was no evidence of peristalsis inside the mass and no signs of intestinal obstruction.
Testicular torsion was not a probablity either, because we could not see the double-ring image. In the cases reported in the literature, usually fetal testicular teratomas appear on ultrasound as a heterogeneous intra-abdominal mass (Shih et al. 1997), although some cases in descended testis have also been published (Tamada et al. 1997). This fact, along with the higher prevalence of teratoma with respect to other neoplasms, made us think of it as the most likely type of tumour. The juvenile granulosa cell tumour is a rare, benign form of sexcord stromal tumour and it is much more frequent in the ovary than in the testis. It has been described in testicles affected either by cryptorchidism or mixed gonadal dysgenesis and also associated with neonatal torsion. It accounts for 1–5% of all prepuberal tumours (Peterson and Skoog 2008). It is usually diagnosed in the first year of life, which makes a hypothesis of intrauterine tumorigenesis quite possible (Bryan et al. 2003; Lawrence et al. 1985). Treatment consists of orchidectomy.
Figure 2. Colour Doppler shows scarce blood flow in the scrotal mass.
Downloaded by [University of California Santa Barbara] at 19:56 05 November 2015
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Obstetric Case Reports
Figure 3. 3D-rendered image of the fetal scrotal sac and the penis, showing the homogeneous testicle on the right and the heterogeneous tumour on the left.
Figure 4. Postnatal MRI with contrast (T2 sequence) confirms the prenatal diagnosis of testicular tumour in the newborn.
To our knowledge, there are only two papers related to the prenatal diagnosis of this tumour in the testes (Peterson and Skoog 2008; Bryan et al. 2003), in one of which the prenatal image was retrospectively confirmed (Bryan et al. 2003). Declaration of interest: The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.
Pretorius DH, Halsted MJ, Abels W et al. 1998. Hydroceles identified prenatally: common physiologic phenomenon? Journal of Ultrasound in Medicine 17: 49–52. Shih HH, Teng RJ, Yau KI et al. 1997. Mature teratoma arising from an intra-abdominal undescended testis presenting as a fetal abdominal mass. Ultrasound in Obstetrics and Gynecology 10:209–211. Tamada H, Kanai H, Sakuma Y et al. 1997. A case of infant testicular tumor diagnosed ultrasonographically in the prenatal period. Hinyokika Kiyo (Acta Urologica Japonica) 43:517–520.
References Alamo L, Beck-Popovic M, Gudinchet F et al. 2011. Congenital tumours: Imaging when life just begins. Insights Imaging 2:297–308. Bryan DE, Cain MP, Casale AJ. 2003. Juvenile granulosa-theca cell (sex cordstromal) tumor of the infant testis. Journal of Urology 169:1497–1498. Frati A, Ducarme G, Vuillard E et al. 2008. Prenatal evaluation of a scrotal mass using a high-frequency probe in the diagnosis of inguinoscrotal hernia. Ultrasound in Obstetrics and Gynecology 32:949–950. Herman A, Schvimer M, Tovbin J et al. 2002. Antenatal sonographic diagnosis of testicular torsion. Ultrasound in Obstetrics and Gynecology 20: 522–524. Lawrence WD, Young RH, Scully RE. 1985. Juvenile granulosa cell tumor of the infantile testis. A report of 14 cases. American Journal of Surgical Pathology 9:87–94. Peterson C, Skoog S. 2008. Prenatal diagnosis of juvenile granulosa cell tumor of the testis. Journal of Pediatric Urology 4:472–474.
Pregnancy in Alport syndrome: A report of two differently-evolving cases M. Alessi1, A. Fabris2, A. Zambon2, D. Cremasco1, E. Muraro1, L. Dosa3, F. Anglani1 & D. Del Prete1,4 1Nephrology Unit, 2Obstetric Unit, Department of Medicine,
University of Padua, 3Medical Genetic Section, University of Siena and 4Kidney and Pregnancy Study Group of SIN (Italian Society of Nephrology), Italy DOI: 10.3109/01443615.2013.834299
