- Email: [email protected]
A case report on ovotesticular DSD
APME-251; No. of Pages 3 apollo medicine xxx (2016) xxx–xxx
Available online at www.sciencedirect.com
ScienceDirect journal homepage: www.elsevier.com/locate/apme
Case Report
A case report on ovotesticular DSD G. Aruna Jyothi a,*, Nitya Waghray b a
Professor and Head of the Department, Department of Anatomy, Apollo Institute of Medical Sciences, Jubilee Hills, Hyderabad, Telanganna, India b Tutor, Department of Anatomy, Apollo Institute of Medical Sciences, Jubilee Hills, Hyderabad, Telanganna, India
article info
abstract
Article history:
True hermaphrodite (TH) is one of the rarest varieties of disorders of sexual differentiation
Received 29 November 2014
(DSD). It refers to individuals who have both ovarian tissue and testicular elements regard-
Accepted 23 January 2015
less of their karyotype. The development of phenotypic sex is a complex process dependent
Available online xxx
upon the differentiation of bipotential gonads into the testes or ovaries. In the nature and location of the gonads true hermaphroditism may be bilateral (testis and ovary or ovotestes
Keywords:
on each side), unilateral (ovotestes on one side and testis or ovary on the other), or lateral
True hermaphrodite
existence (testis on one side and ovary on the other). Additionally, the ovotestes is defined as
Phenotype
a single gonad containing both testicular and ovarian tissues. In the present report the
Ovotestes
authors describe a case of ambiguous genitalia in an 18 year old who had come for
Hysterectomy
laparoscopic hysterectomy; the sex of the patient was determined to be male before making the final diagnosis. Early and appropriate gender assignment is necessary for healthy physical and psychologic development of children with ambiguous genitalia. Gender assignment can be facilitated with a team approach that involves a pediatric endocrinologist, geneticist, urologist, psychiatrist, social worker, neonatologist, nurse, and radiologist, allowing timely diagnosis and proper management. # 2015 Indraprastha Medical Corporation Ltd. Published by Elsevier B.V. All rights reserved.
1.
Introduction
True hermaphroditism (TH) is considered a disorder of sex development1 characterized by the presence of both ovarian tissue (containing follicles) and testicular tissue (with distinct seminiferous tubules) in the same individual.2 Typically, both Mullerian and Wolffian derivatives are present and the genitalia are ambiguous. However, the internal and external genitalia described in hermaphrodites encompass a spectrum
of findings. TH has been associated with various chromosomal complements including 46,XX, 46,XY, 46,XX/46,XY, 47,XXY, 47, XYY, 45X, and 46,XX/47,XXY mosaicism.3 Molecular genetics can help elucidate the mechanism by which TH arises. Few cases of TH with such studies have been reported. True hermaphrodite or ovo-testicular disorder of sexual differentiation (OVO-DSD) is one of the rarest variety of all inter sex anomalies. In about 90% of cases, patients have 46 XX karyotype. Rarely, 46 XY/46 XX mosaicism may occur. There have been reports of 46 XY karyotype.4 The classification is
* Corresponding author. Tel.: +91 9866231576. E-mail address: [email protected] (G.A. Jyothi). http://dx.doi.org/10.1016/j.apme.2015.01.004 0976-0016/# 2015 Indraprastha Medical Corporation Ltd. Published by Elsevier B.V. All rights reserved.
Please cite this article in press as: Jyothi GA, Waghray N. A case report on ovotesticular DSD, Apollo Med. (2016), http://dx.doi.org/10.1016/j. apme.2015.01.004
APME-251; No. of Pages 3
2
apollo medicine xxx (2016) xxx–xxx
[(Fig._1)TD$IG]
[(Fig._2)TD$IG]
Fig. 2 – Ultrasound showing fluid filled pear shaped structure behind urinary bladder and anterior to rectum.
Fig. 1 – Absent scrotal sac and small phallus.
divided into sex chromosome DSD variants, 46XY DSD and 46XX DSD. Mixed gonadal disgenesis (MGD) is associated with a differentiated gonad on one side and a streak gonad on the other side. The most frequent karyotype is 46,XX or various forms of mosaicism 45x/46xx/46xy. Clinical phenotype may range from male to female external genitalia to ambiguous genitalia. A differential diagnosis between the TH and MGD has important clinical implications for gender assignment and the decision for early gonadectomy; however, the conditions can be distinguished histologically. An ovotestis is the most common gonad found in true hermaphroditism.
underwent an ultrasonography and the ultrasonographic report suggested a midline well defined thick walled uterus observed behind urinary bladder and anterior to rectum (Fig. 2). The hormone profile of the patient suggested an elevated level of FSH, decreased testosterone and leutinizing hormone (LH). Hysterectomy was performed and the ovotestis was removed. The specimen measured 7 1 3 cm with bilateral adnexae. The fallopian tubes measured 2.5 cm on either side. Streak ovary on one side measuring 0.5 0.20 cm was noted. The ovary on the other side measured 0.75 0.5 cm. The specimen was sent for histopathology examination (Fig. 3). On histopathological examination, an atrophic uterus with the cervix was observed. The adnexae of one side exhibited streak ovary with occasional primordial follicle (Fig. 4). The sex of the child can be assigned by a specialized team of experts after the diagnostic confirmation based on the external genitalia, gonads and the genetic factors.
3. 2.
Discussion
Case report
The present study describes a case of a true hermaphrodite. An 18 year old patient reared as male with short stature and no development of secondary sexual characteristics was reported to the Department of Urology, College Hospital for Laparoscopically Assisted Vaginal Hysterectomy (LAVH). The patient presented with suprapubic pain at monthly intervals. On examination, it was observed that the patient had a small phallus (3 cm) with empty scrotal sacs (Fig. 1) resembling labia. The patient was referred for an MRI scan. The MRI scan report presented streaky uterus and blindly ending vagina. However, the ovaries and the testes were not visualized. The karyotype of the patient was 46XX. The patient
The term hermaphrodite is derived from Greek mythological God ‘‘Hermaphroditos’’ son of Hermes and Aphrodite, whose body after being merged with nymph Salmakis assumed a more perfect form with both male and female attributes.5 The causes of true hermaphroditism remain enigmatic and the commonest presentation is an abnormal external genitalia ranging from normal male to normal female. Proper gender assignment to a neonate born with DSD is a social emergency of the newborn period. Infants and children born with DSD pose a diagnostic and therapeutic challenge to the clinicians. Success depends upon rapid and precise diagnosis, appropriate gender assignment, proper medical therapy and meticulous surgical technique.6
Please cite this article in press as: Jyothi GA, Waghray N. A case report on ovotesticular DSD, Apollo Med. (2016), http://dx.doi.org/10.1016/j. apme.2015.01.004
APME-251; No. of Pages 3 apollo medicine xxx (2016) xxx–xxx
[(Fig._3)TD$IG]
3
Fig. 3 – Specimen removed after laproscopy.
In many cases chordee, hypospadias and cryptorchidism may be noted. The true hermaphrodites usually present asymmetrical gonads with predominant testis undergoes descent and the predominant ovary remains in the abdomen. Based on the location and histology of gonads the patients may be classified as lateral testis and contralateral ovary which is commonly seen in 30% of the cases, bilateral testicular and ovarian tissue identified on both the sides usually known as ovotestes seen in 50% of the cases and the third is the unilateral type in which ovotestis is identified on one side and either ovary or testis is noted on the other side seen in 20% of the cases. The choice of rearing the hermaphrodite as male or female is governed by the size of the phallus. True hermaphroditism is rarely associated with gonadal tumors, unlike in mixed gonadal dysgenesis, where the presence of a dysgenetic gonad predisposes to gonadal malignancy. In the present case, we found ovotestes on one side and ovary on the other side. The child was however reared as male by the family. The chromosomal analysis depicted the genotype to be 46XX.
4.
Conclusion
Inter sex leads to great distress in the family and for the patient. Though it is not a medical problem, but psycho – social emergency. It requires early assignment of sex of the patient. Inter sexed genitals must be ‘‘normalized’’ to whatever extent possible. Inter sex is a community and social concern requiring understanding, support and professional counseling. Early and appropriate gender assignment is necessary for healthy physical and psychologic development of children with ambiguous genitalia. Hence, gender assignment can be facilitated with a team approach that involves a specialized team consisting of a pediatric endocrinologist, geneticist, urologist, psychiatrist, social worker, neonatologist, nurse, and radiologist, allowing timely diagnosis and proper management.
Conflicts of interest All authors have none to declare.
[(Fig._4)TD$IG]
references
Fig. 4 – Histopathology of the specimen. Arrow represents the testicular tissue.
1. Hughes IA, Houk C, Ahmed SF, Lee PA. Consensus statement on management of intersex disorders. Arch Dis Child. 2006;91:554–563. 2. Krob G, Braun A, Kuhnle U. True hermaphroditism: geographical distribution, clinical findings, chromosomes and gonadal histology. Eur J Pediatr. 1994;153:2–10. 3. Lee PA, Houk CP, Ahemed SF, Hughes IA. Consensus statement on management of intersex disorders. International consensus conference on intersex. Pediatrics. 2006;118:e488–500. 4. Donaho PK, Schnitzer JJ. Evaluation of the infant who has ambiguous genitalia and principle of operative management. Seminr-Peditar-Surg. 1996;5:30–40. 5. Grumbach MM, Conte FA. Disorders of Sex Differentiation, Text Book of Endocrinology. 6th ed. Philadelphia: W B Saunders, Co. [Chapter 9]; pp. 198–473. 6. Mc Donough PG, Rogers Byrd J, Phung TT. Gonadoblastoma in a true hermaphrodite with 46 XX karyotype. Obstet Gynecol. 1976;47:355–358.
Please cite this article in press as: Jyothi GA, Waghray N. A case report on ovotesticular DSD, Apollo Med. (2016), http://dx.doi.org/10.1016/j. apme.2015.01.004
Available online at www.sciencedirect.com
ScienceDirect journal homepage: www.elsevier.com/locate/apme
Case Report
A case report on ovotesticular DSD G. Aruna Jyothi a,*, Nitya Waghray b a
Professor and Head of the Department, Department of Anatomy, Apollo Institute of Medical Sciences, Jubilee Hills, Hyderabad, Telanganna, India b Tutor, Department of Anatomy, Apollo Institute of Medical Sciences, Jubilee Hills, Hyderabad, Telanganna, India
article info
abstract
Article history:
True hermaphrodite (TH) is one of the rarest varieties of disorders of sexual differentiation
Received 29 November 2014
(DSD). It refers to individuals who have both ovarian tissue and testicular elements regard-
Accepted 23 January 2015
less of their karyotype. The development of phenotypic sex is a complex process dependent
Available online xxx
upon the differentiation of bipotential gonads into the testes or ovaries. In the nature and location of the gonads true hermaphroditism may be bilateral (testis and ovary or ovotestes
Keywords:
on each side), unilateral (ovotestes on one side and testis or ovary on the other), or lateral
True hermaphrodite
existence (testis on one side and ovary on the other). Additionally, the ovotestes is defined as
Phenotype
a single gonad containing both testicular and ovarian tissues. In the present report the
Ovotestes
authors describe a case of ambiguous genitalia in an 18 year old who had come for
Hysterectomy
laparoscopic hysterectomy; the sex of the patient was determined to be male before making the final diagnosis. Early and appropriate gender assignment is necessary for healthy physical and psychologic development of children with ambiguous genitalia. Gender assignment can be facilitated with a team approach that involves a pediatric endocrinologist, geneticist, urologist, psychiatrist, social worker, neonatologist, nurse, and radiologist, allowing timely diagnosis and proper management. # 2015 Indraprastha Medical Corporation Ltd. Published by Elsevier B.V. All rights reserved.
1.
Introduction
True hermaphroditism (TH) is considered a disorder of sex development1 characterized by the presence of both ovarian tissue (containing follicles) and testicular tissue (with distinct seminiferous tubules) in the same individual.2 Typically, both Mullerian and Wolffian derivatives are present and the genitalia are ambiguous. However, the internal and external genitalia described in hermaphrodites encompass a spectrum
of findings. TH has been associated with various chromosomal complements including 46,XX, 46,XY, 46,XX/46,XY, 47,XXY, 47, XYY, 45X, and 46,XX/47,XXY mosaicism.3 Molecular genetics can help elucidate the mechanism by which TH arises. Few cases of TH with such studies have been reported. True hermaphrodite or ovo-testicular disorder of sexual differentiation (OVO-DSD) is one of the rarest variety of all inter sex anomalies. In about 90% of cases, patients have 46 XX karyotype. Rarely, 46 XY/46 XX mosaicism may occur. There have been reports of 46 XY karyotype.4 The classification is
* Corresponding author. Tel.: +91 9866231576. E-mail address: [email protected] (G.A. Jyothi). http://dx.doi.org/10.1016/j.apme.2015.01.004 0976-0016/# 2015 Indraprastha Medical Corporation Ltd. Published by Elsevier B.V. All rights reserved.
Please cite this article in press as: Jyothi GA, Waghray N. A case report on ovotesticular DSD, Apollo Med. (2016), http://dx.doi.org/10.1016/j. apme.2015.01.004
APME-251; No. of Pages 3
2
apollo medicine xxx (2016) xxx–xxx
[(Fig._1)TD$IG]
[(Fig._2)TD$IG]
Fig. 2 – Ultrasound showing fluid filled pear shaped structure behind urinary bladder and anterior to rectum.
Fig. 1 – Absent scrotal sac and small phallus.
divided into sex chromosome DSD variants, 46XY DSD and 46XX DSD. Mixed gonadal disgenesis (MGD) is associated with a differentiated gonad on one side and a streak gonad on the other side. The most frequent karyotype is 46,XX or various forms of mosaicism 45x/46xx/46xy. Clinical phenotype may range from male to female external genitalia to ambiguous genitalia. A differential diagnosis between the TH and MGD has important clinical implications for gender assignment and the decision for early gonadectomy; however, the conditions can be distinguished histologically. An ovotestis is the most common gonad found in true hermaphroditism.
underwent an ultrasonography and the ultrasonographic report suggested a midline well defined thick walled uterus observed behind urinary bladder and anterior to rectum (Fig. 2). The hormone profile of the patient suggested an elevated level of FSH, decreased testosterone and leutinizing hormone (LH). Hysterectomy was performed and the ovotestis was removed. The specimen measured 7 1 3 cm with bilateral adnexae. The fallopian tubes measured 2.5 cm on either side. Streak ovary on one side measuring 0.5 0.20 cm was noted. The ovary on the other side measured 0.75 0.5 cm. The specimen was sent for histopathology examination (Fig. 3). On histopathological examination, an atrophic uterus with the cervix was observed. The adnexae of one side exhibited streak ovary with occasional primordial follicle (Fig. 4). The sex of the child can be assigned by a specialized team of experts after the diagnostic confirmation based on the external genitalia, gonads and the genetic factors.
3. 2.
Discussion
Case report
The present study describes a case of a true hermaphrodite. An 18 year old patient reared as male with short stature and no development of secondary sexual characteristics was reported to the Department of Urology, College Hospital for Laparoscopically Assisted Vaginal Hysterectomy (LAVH). The patient presented with suprapubic pain at monthly intervals. On examination, it was observed that the patient had a small phallus (3 cm) with empty scrotal sacs (Fig. 1) resembling labia. The patient was referred for an MRI scan. The MRI scan report presented streaky uterus and blindly ending vagina. However, the ovaries and the testes were not visualized. The karyotype of the patient was 46XX. The patient
The term hermaphrodite is derived from Greek mythological God ‘‘Hermaphroditos’’ son of Hermes and Aphrodite, whose body after being merged with nymph Salmakis assumed a more perfect form with both male and female attributes.5 The causes of true hermaphroditism remain enigmatic and the commonest presentation is an abnormal external genitalia ranging from normal male to normal female. Proper gender assignment to a neonate born with DSD is a social emergency of the newborn period. Infants and children born with DSD pose a diagnostic and therapeutic challenge to the clinicians. Success depends upon rapid and precise diagnosis, appropriate gender assignment, proper medical therapy and meticulous surgical technique.6
Please cite this article in press as: Jyothi GA, Waghray N. A case report on ovotesticular DSD, Apollo Med. (2016), http://dx.doi.org/10.1016/j. apme.2015.01.004
APME-251; No. of Pages 3 apollo medicine xxx (2016) xxx–xxx
[(Fig._3)TD$IG]
3
Fig. 3 – Specimen removed after laproscopy.
In many cases chordee, hypospadias and cryptorchidism may be noted. The true hermaphrodites usually present asymmetrical gonads with predominant testis undergoes descent and the predominant ovary remains in the abdomen. Based on the location and histology of gonads the patients may be classified as lateral testis and contralateral ovary which is commonly seen in 30% of the cases, bilateral testicular and ovarian tissue identified on both the sides usually known as ovotestes seen in 50% of the cases and the third is the unilateral type in which ovotestis is identified on one side and either ovary or testis is noted on the other side seen in 20% of the cases. The choice of rearing the hermaphrodite as male or female is governed by the size of the phallus. True hermaphroditism is rarely associated with gonadal tumors, unlike in mixed gonadal dysgenesis, where the presence of a dysgenetic gonad predisposes to gonadal malignancy. In the present case, we found ovotestes on one side and ovary on the other side. The child was however reared as male by the family. The chromosomal analysis depicted the genotype to be 46XX.
4.
Conclusion
Inter sex leads to great distress in the family and for the patient. Though it is not a medical problem, but psycho – social emergency. It requires early assignment of sex of the patient. Inter sexed genitals must be ‘‘normalized’’ to whatever extent possible. Inter sex is a community and social concern requiring understanding, support and professional counseling. Early and appropriate gender assignment is necessary for healthy physical and psychologic development of children with ambiguous genitalia. Hence, gender assignment can be facilitated with a team approach that involves a specialized team consisting of a pediatric endocrinologist, geneticist, urologist, psychiatrist, social worker, neonatologist, nurse, and radiologist, allowing timely diagnosis and proper management.
Conflicts of interest All authors have none to declare.
[(Fig._4)TD$IG]
references
Fig. 4 – Histopathology of the specimen. Arrow represents the testicular tissue.
1. Hughes IA, Houk C, Ahmed SF, Lee PA. Consensus statement on management of intersex disorders. Arch Dis Child. 2006;91:554–563. 2. Krob G, Braun A, Kuhnle U. True hermaphroditism: geographical distribution, clinical findings, chromosomes and gonadal histology. Eur J Pediatr. 1994;153:2–10. 3. Lee PA, Houk CP, Ahemed SF, Hughes IA. Consensus statement on management of intersex disorders. International consensus conference on intersex. Pediatrics. 2006;118:e488–500. 4. Donaho PK, Schnitzer JJ. Evaluation of the infant who has ambiguous genitalia and principle of operative management. Seminr-Peditar-Surg. 1996;5:30–40. 5. Grumbach MM, Conte FA. Disorders of Sex Differentiation, Text Book of Endocrinology. 6th ed. Philadelphia: W B Saunders, Co. [Chapter 9]; pp. 198–473. 6. Mc Donough PG, Rogers Byrd J, Phung TT. Gonadoblastoma in a true hermaphrodite with 46 XX karyotype. Obstet Gynecol. 1976;47:355–358.
Please cite this article in press as: Jyothi GA, Waghray N. A case report on ovotesticular DSD, Apollo Med. (2016), http://dx.doi.org/10.1016/j. apme.2015.01.004