Prenatal Diagnosis of True Diphallia and Associated Anomalies
Early diagnosis allows the parents to be prepared for the future management and outcome of this rare birth defect.
Yi-An Tu, MD, Yi-Ning Su, MD, PhD, Po-Kai Yang, MD, and Jin-Chung Shih, MD, PhD
A 34-year-old woman, gravida 1 para 0, was referred to our center at 23 weeks of gestation because of suspicion of genital anomaly in one twin. Amniocentesis at 18 weeks of gestation revealed karyotypes of 46XX for one twin and 46XY for the other. Our initial ultrasound examination revealed dichorionic twins of appropriate size for gestational age. One fetus had normal-appearing female genitalia, but the other fetus exhibited two phallus-like protrusions and a single bifid scrotum at the genital region (Fig. 1; Video 1, available online at http:// links.lww.com/AOG/A532; and Video 2, available online at http://links.lww.com/AOG/A533). Three-dimensional ultrasonography illustrated that the two penile shafts were the same size and were fully separated (Fig. 2). Additionally, a duplicated collecting system was noted in both kidneys. We apprised the family of the diagnosis of true complete diphallia with bifid scrotum and duplicated collecting system. We established comprehensive care for the patient and her family through a multidisciplinary approach. We first referred the mother to the genetic specialist to verify that the diphallia was attributable to a sporadic condition rather than a heritable genetic defect. Endocrinology consultation confirmed that endocrine deficiency has not been reported in cases of diphallia. Our pediatric urologist counseled that staged surgical repairs should be offered to restore proper urinary stream, urinary continence, and penile erection, and to achieve adequate esthetic outcome. These staged operations would include excision of one of the penises, urethroplasty, and scrotal reconstruction. Surgical treatment for duplication of collecting systems is reserved for patients with recurrent urinary tract infections or other clinical symptoms. We also explained to the parents that the long-term outcome of diphallia without associated anomalies, even without reconstruction, is generally favorable. Patients often have a normal sexual life and are able to conceive. Our multidisciplinary approach alleviated the anxiety of the parents and, after extensive counseling, they opted to continue the pregnancy and take any postpartum measures needed. The prenatal course was uneventful until 36 weeks of gestation, when our patient noted the absence of fetal movement in one twin. She came to our clinic, and an ultrasound examination confirmed the spontaneous death of the male fetus. Because of the breech presentation of both fetuses, a cesarean delivery was performed on the same day. Twin A was a healthy female with a birth weight of 2,466 g and Apgar scores of 9 and 9 at 1 and 5 minutes, respectively. Twin B was a deceased male with a birth weight of 2,140 g. Physical examination of the external genitalia of twin B showed two distinct penile shafts with separate bases. The phalluses were the same size and oriented in dorsal-ventral
BACKGROUND: Diphallia poses several surgical, psychological, and esthetic issues. Currently, diphallia is only diagnosed after birth. CASE: We present a true diphallia in one fetus of dichorionic twins noted at 23 weeks of gestation. In this fetus, two phallus-like protrusions and a bifid scrotum, as well as a duplicated collecting system of both kidneys, were found on ultrasonogram. Unfortunately, the fetus died near term. CONCLUSION: Diphallia, although exceedingly rare, can be precisely diagnosed antenatally. Careful ultrasound examination of the origins of the fetal phallus and of other adjacent organs is essential to establish the diagnosis of diphallia and to detect any associated anomalies. (Obstet Gynecol 2014;124:416–8) DOI: 10.1097/AOG.0000000000000327
H
igh-resolution ultrasonography allows detailed visualization of fetal genitalia for gender determination and genital anomaly detection. Currently, diphallia is only diagnosed after birth. Literature review of diphallia by searching synonyms of “double penis,” “penile duplication,” or “diphallia,” and “fetus” or “prenatal diagnosis” on MEDLINE, between the publishing dates ranging from January 1, 1950, to March 8, 2014, yielded reports of various types of genital anomalies, but no reports of prenatally diagnosed fetal diphallia. Diphallia poses several surgical, psychological, and esthetic issues. From the Department of Obstetrics and Gynecology, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan. The authors thank Stacy Fang, MD candidate, for critical manuscript review. Corresponding author: Jin-Chung Shih, MD, PhD, Department of Obstetrics and Gynecology, National Taiwan University Hospital and National Taiwan University College of Medicine, 15F, No. 8, Chung-Shan South Road, 10002, Taipei, Taiwan; e-mail: [email protected]. Financial Disclosure The authors did not report any potential conflicts of interest. © 2014 by The American College of Obstetricians and Gynecologists. Published by Lippincott Williams & Wilkins. ISSN: 0029-7844/14
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Prenatal Diagnosis of Fetal Diphallia
CASE
OBSTETRICS & GYNECOLOGY
Fig. 1. In utero two-dimensional ultrasound findings at 23 weeks of gestation in the fetus with diphallia and bifid scrotum. Two completely separated phalluses of the same size are shown in the genital area (left). In the axial view, the dorsal phallus between the two scrotal folds manifested the “tulip sign,” which is indicative of hypospadias (right). However, hypospadias was not found after birth. Tu. Prenatal Diagnosis of Fetal Diphallia. Obstet Gynecol 2014.
Video 1. Real-time ultrasound scan of fetal diphallia. Realtime ultrasound scan demonstrated two separated phalluses in the genital region of fetus at 23 weeks of gestation. Video creator: Jin-Chung Shih. Used with permission.
Video 2. Real-time ultrasound scan of fetal diphallia. The urethras of the two phalluses (arrows) appear to connect separately with the distal portion of the bladder. Video creator: Jin-Chung Shih. Used with permission.
positions. Both phalluses had distinct and independent urethral meatuses. No hypospadias was noted (Fig. 3). On gross examination, anal and spinal development appeared normal. We thoroughly inspected the placenta, umbilical
cord, and membranes; no obvious cause of fetal demise was noted. The parents declined an autopsy because of religious preference. Now 3 years old, the surviving co-twin has experienced normal growth and development.
Scan this image to view Video 1 on your smartphone.
VOL. 124, NO. 2, PART 2, AUGUST 2014
Scan this image to view Video 2 on your smartphone.
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Prenatal Diagnosis of Fetal Diphallia
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Fig. 2. Three-dimensional ultrasound findings of the fetus with true complete diphallia at 23 weeks of gestation.
Fig. 3. Photograph of the external genitalia. Two separate phalluses of the same size and bifid scrotum are shown. Both phalluses have distinct meatuses at normal positions.
Tu. Prenatal Diagnosis of Fetal Diphallia. Obstet Gynecol 2014.
Tu. Prenatal Diagnosis of Fetal Diphallia. Obstet Gynecol 2014.
COMMENT Diphallia is a rare condition with an estimated incidence of 1 per 5.5 million live births.1 The duplication may be orthotopic or ectopic, the division of the penises may be sagittal or frontal, and the shape and size may be symmetric or asymmetric. Diphallia has been classified into two main groups based on the degree of penile separation. True diphallia refers to a condition in which two phalluses completely separate, whereas bifid phallus indicates two glans or phalluses sharing a single common base. They can be further classified into complete or partial forms based on congruency of size.2 When one of the penises is smaller or rudimentary, it corresponds to the partial type. Although diphallia may appear as an isolated anomaly, it may also be associated with other malformations, such as urinary tract duplication, cloacal exstrophy, imperforate anus, rectosigmoid duplication, and vertebral anomalies.3 True diphallia is more often associated with severe malformations than is bifid phallus.4 The embryologic cause of diphallia is uncertain. It has been suggested that bands of mesoderm arise from two separate areas of the cloacal plate to form two genital tubercles, which further develop into two penises.5 For neonates with diphallia, staged operations may be
418
Tu et al
Prenatal Diagnosis of Fetal Diphallia
needed to achieve proper urinary and sexual function. To determine the fetal gender by ultrasonography, the genital region should be examined in a mid-sagittal plane in the first trimester and in an axial view (usually including both femurs) after the second trimester. The diagnosis of diphallia is clear when double glans penises are seen. Care must be taken to check whether these penile shafts are separated or conjoined at the base to distinguish true diphallia from bifid phallus. A detailed survey of the neighboring structures is required because of the possible association of gastrointestinal duplications and genitourinary anomalies. REFERENCES 1. Kaufman A, Guia R, Davila H, Kaufman A. Diphallus with third urethra. Urology 1990;35:257–60. 2. Gyftopoulos K, Wolffenbuttel KP, Nijman RJ. Clinical and embryologic aspects of penile duplication and associated anomalies. Urology 2002;60:675–9. 3. Rock SD, Gearhart JP. Complete lower urinary tract duplication with true diphallia presenting as a rare covered exstrophy variant. J Urol 1997;157:1907–8. 4. Janda GM, Nepple KG, Cooper CS, Austin JC. Supernumerary kidney in a child with OEIS complex. Urology 2009;74: 305–7. 5. Hollowell JG Jr, Witherington R, Ballagas AJ, Burt JN. Embryologic considerations of diphallus and associated anomalies. J Urol 1977;117:728–32.
OBSTETRICS & GYNECOLOGY
Early diagnosis allows the parents to be prepared for the future management and outcome of this rare birth defect.
Yi-An Tu, MD, Yi-Ning Su, MD, PhD, Po-Kai Yang, MD, and Jin-Chung Shih, MD, PhD
A 34-year-old woman, gravida 1 para 0, was referred to our center at 23 weeks of gestation because of suspicion of genital anomaly in one twin. Amniocentesis at 18 weeks of gestation revealed karyotypes of 46XX for one twin and 46XY for the other. Our initial ultrasound examination revealed dichorionic twins of appropriate size for gestational age. One fetus had normal-appearing female genitalia, but the other fetus exhibited two phallus-like protrusions and a single bifid scrotum at the genital region (Fig. 1; Video 1, available online at http:// links.lww.com/AOG/A532; and Video 2, available online at http://links.lww.com/AOG/A533). Three-dimensional ultrasonography illustrated that the two penile shafts were the same size and were fully separated (Fig. 2). Additionally, a duplicated collecting system was noted in both kidneys. We apprised the family of the diagnosis of true complete diphallia with bifid scrotum and duplicated collecting system. We established comprehensive care for the patient and her family through a multidisciplinary approach. We first referred the mother to the genetic specialist to verify that the diphallia was attributable to a sporadic condition rather than a heritable genetic defect. Endocrinology consultation confirmed that endocrine deficiency has not been reported in cases of diphallia. Our pediatric urologist counseled that staged surgical repairs should be offered to restore proper urinary stream, urinary continence, and penile erection, and to achieve adequate esthetic outcome. These staged operations would include excision of one of the penises, urethroplasty, and scrotal reconstruction. Surgical treatment for duplication of collecting systems is reserved for patients with recurrent urinary tract infections or other clinical symptoms. We also explained to the parents that the long-term outcome of diphallia without associated anomalies, even without reconstruction, is generally favorable. Patients often have a normal sexual life and are able to conceive. Our multidisciplinary approach alleviated the anxiety of the parents and, after extensive counseling, they opted to continue the pregnancy and take any postpartum measures needed. The prenatal course was uneventful until 36 weeks of gestation, when our patient noted the absence of fetal movement in one twin. She came to our clinic, and an ultrasound examination confirmed the spontaneous death of the male fetus. Because of the breech presentation of both fetuses, a cesarean delivery was performed on the same day. Twin A was a healthy female with a birth weight of 2,466 g and Apgar scores of 9 and 9 at 1 and 5 minutes, respectively. Twin B was a deceased male with a birth weight of 2,140 g. Physical examination of the external genitalia of twin B showed two distinct penile shafts with separate bases. The phalluses were the same size and oriented in dorsal-ventral
BACKGROUND: Diphallia poses several surgical, psychological, and esthetic issues. Currently, diphallia is only diagnosed after birth. CASE: We present a true diphallia in one fetus of dichorionic twins noted at 23 weeks of gestation. In this fetus, two phallus-like protrusions and a bifid scrotum, as well as a duplicated collecting system of both kidneys, were found on ultrasonogram. Unfortunately, the fetus died near term. CONCLUSION: Diphallia, although exceedingly rare, can be precisely diagnosed antenatally. Careful ultrasound examination of the origins of the fetal phallus and of other adjacent organs is essential to establish the diagnosis of diphallia and to detect any associated anomalies. (Obstet Gynecol 2014;124:416–8) DOI: 10.1097/AOG.0000000000000327
H
igh-resolution ultrasonography allows detailed visualization of fetal genitalia for gender determination and genital anomaly detection. Currently, diphallia is only diagnosed after birth. Literature review of diphallia by searching synonyms of “double penis,” “penile duplication,” or “diphallia,” and “fetus” or “prenatal diagnosis” on MEDLINE, between the publishing dates ranging from January 1, 1950, to March 8, 2014, yielded reports of various types of genital anomalies, but no reports of prenatally diagnosed fetal diphallia. Diphallia poses several surgical, psychological, and esthetic issues. From the Department of Obstetrics and Gynecology, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan. The authors thank Stacy Fang, MD candidate, for critical manuscript review. Corresponding author: Jin-Chung Shih, MD, PhD, Department of Obstetrics and Gynecology, National Taiwan University Hospital and National Taiwan University College of Medicine, 15F, No. 8, Chung-Shan South Road, 10002, Taipei, Taiwan; e-mail: [email protected]. Financial Disclosure The authors did not report any potential conflicts of interest. © 2014 by The American College of Obstetricians and Gynecologists. Published by Lippincott Williams & Wilkins. ISSN: 0029-7844/14
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Tu et al
Prenatal Diagnosis of Fetal Diphallia
CASE
OBSTETRICS & GYNECOLOGY
Fig. 1. In utero two-dimensional ultrasound findings at 23 weeks of gestation in the fetus with diphallia and bifid scrotum. Two completely separated phalluses of the same size are shown in the genital area (left). In the axial view, the dorsal phallus between the two scrotal folds manifested the “tulip sign,” which is indicative of hypospadias (right). However, hypospadias was not found after birth. Tu. Prenatal Diagnosis of Fetal Diphallia. Obstet Gynecol 2014.
Video 1. Real-time ultrasound scan of fetal diphallia. Realtime ultrasound scan demonstrated two separated phalluses in the genital region of fetus at 23 weeks of gestation. Video creator: Jin-Chung Shih. Used with permission.
Video 2. Real-time ultrasound scan of fetal diphallia. The urethras of the two phalluses (arrows) appear to connect separately with the distal portion of the bladder. Video creator: Jin-Chung Shih. Used with permission.
positions. Both phalluses had distinct and independent urethral meatuses. No hypospadias was noted (Fig. 3). On gross examination, anal and spinal development appeared normal. We thoroughly inspected the placenta, umbilical
cord, and membranes; no obvious cause of fetal demise was noted. The parents declined an autopsy because of religious preference. Now 3 years old, the surviving co-twin has experienced normal growth and development.
Scan this image to view Video 1 on your smartphone.
VOL. 124, NO. 2, PART 2, AUGUST 2014
Scan this image to view Video 2 on your smartphone.
Tu et al
Prenatal Diagnosis of Fetal Diphallia
417
Fig. 2. Three-dimensional ultrasound findings of the fetus with true complete diphallia at 23 weeks of gestation.
Fig. 3. Photograph of the external genitalia. Two separate phalluses of the same size and bifid scrotum are shown. Both phalluses have distinct meatuses at normal positions.
Tu. Prenatal Diagnosis of Fetal Diphallia. Obstet Gynecol 2014.
Tu. Prenatal Diagnosis of Fetal Diphallia. Obstet Gynecol 2014.
COMMENT Diphallia is a rare condition with an estimated incidence of 1 per 5.5 million live births.1 The duplication may be orthotopic or ectopic, the division of the penises may be sagittal or frontal, and the shape and size may be symmetric or asymmetric. Diphallia has been classified into two main groups based on the degree of penile separation. True diphallia refers to a condition in which two phalluses completely separate, whereas bifid phallus indicates two glans or phalluses sharing a single common base. They can be further classified into complete or partial forms based on congruency of size.2 When one of the penises is smaller or rudimentary, it corresponds to the partial type. Although diphallia may appear as an isolated anomaly, it may also be associated with other malformations, such as urinary tract duplication, cloacal exstrophy, imperforate anus, rectosigmoid duplication, and vertebral anomalies.3 True diphallia is more often associated with severe malformations than is bifid phallus.4 The embryologic cause of diphallia is uncertain. It has been suggested that bands of mesoderm arise from two separate areas of the cloacal plate to form two genital tubercles, which further develop into two penises.5 For neonates with diphallia, staged operations may be
418
Tu et al
Prenatal Diagnosis of Fetal Diphallia
needed to achieve proper urinary and sexual function. To determine the fetal gender by ultrasonography, the genital region should be examined in a mid-sagittal plane in the first trimester and in an axial view (usually including both femurs) after the second trimester. The diagnosis of diphallia is clear when double glans penises are seen. Care must be taken to check whether these penile shafts are separated or conjoined at the base to distinguish true diphallia from bifid phallus. A detailed survey of the neighboring structures is required because of the possible association of gastrointestinal duplications and genitourinary anomalies. REFERENCES 1. Kaufman A, Guia R, Davila H, Kaufman A. Diphallus with third urethra. Urology 1990;35:257–60. 2. Gyftopoulos K, Wolffenbuttel KP, Nijman RJ. Clinical and embryologic aspects of penile duplication and associated anomalies. Urology 2002;60:675–9. 3. Rock SD, Gearhart JP. Complete lower urinary tract duplication with true diphallia presenting as a rare covered exstrophy variant. J Urol 1997;157:1907–8. 4. Janda GM, Nepple KG, Cooper CS, Austin JC. Supernumerary kidney in a child with OEIS complex. Urology 2009;74: 305–7. 5. Hollowell JG Jr, Witherington R, Ballagas AJ, Burt JN. Embryologic considerations of diphallus and associated anomalies. J Urol 1977;117:728–32.
OBSTETRICS & GYNECOLOGY
