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| CASE REPORT |
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| Year : 2022 | Volume
: 71
| Issue : 3 | Page : 242-244 |
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True hermaphrodite of ovotestis in a 5-year-old child
James Joseph Yahaya
Department of Pathology, Makerere University College of Health Sciences, Makerere University, Kampala, Uganda; Department of Biomedical Science, College of Health Science, The University of Dodoma, Dodoma, Tanzania
| Date of Submission | 16-May-2020 |
| Date of Decision | 08-Feb-2022 |
| Date of Acceptance | 02-Apr-2022 |
| Date of Web Publication | 20-Sep-2022 |
Correspondence Address:
Dr. James Joseph Yahaya
Department of Biomedical Science, College of Health Science, The University of Dodoma, Dodoma
 Source of Support: None, Conflict of Interest: None
DOI: 10.4103/JASI.JASI_90_20
Assigning possible and correct sex of individuals born with ambiguous genitalia, notably those with true hermaphroditism (TH) at their neonatal stage, is of paramount psychosocial advantage. A 5-year-old child with karyotype of 46, XX who was reared as male is herein presented. The right testicle was neither palpable in the scrotal sac nor in the inguinal canal. The left testicle was palpable in the scrotum and was of adequate size according to the child. A hormonal profile showed a testosterone level of 2.30 ng/dl (normal value: 30–50 ng/dl). Both testicular and ovarian tissues were found on one side (ovotestis), hence TH of ovotestis was confirmed. It is important to assign true sex for patients with an intersex disorder particularly those with TH so as to give positive psychosocial benefits for them as well as removing gonadal tissues which would lead to the development of gonadal malignancies.
Keywords: Hermaphrodite, orchidectomy, testicle, undescended
How to cite this article:
Yahaya JJ. True hermaphrodite of ovotestis in a 5-year-old child. J Anat Soc India 2022;71:242-4 |
| Introduction | |  |
True hermaphroditism (TH) refers to simultaneous presence of both gonadal tissues (testicular and ovarian tissue) regardless of the patient's karyotype and other ancillary tests such as determination of SRY gene in the blood of the individual.[1] TH is the rarest form of the disorders of sexual differentiation (DSD) whose originality of the term hermaphrodite connoted from the Greek belief of the typical resemblance of a person with both sexes who resulted from joining of the nymph of Fountain of Salmacis with the son of Hermes and Aphrodite. The incidence of TH among the DSDs is 5%.[2] It has also been reported that 1 out of either 4500 or 5000 live-born babies have a chance of being a TH or sometimes called ovotesticular DSD and even the incidence may range up to 10% and about 75 cases of TH have been reported in the literature.[1],[3]
| Case Report | | |
A 5-year-old child was presented by his mother at the outpatient department with the chief complaint of undescended right testicle. The child was reared as male and had an uneventful history since birth. On physical examination, the right testicle was neither palpable in the scrotal sac nor in the inguinal canal. The left testicle was palpable in the scrotum and was of adequate size according to the age of the child. The meatal opening was present at normal position. The penis was measuring approximately 3.8 cm long with 1.7 cm in girth. All routine investigations were within normal range. A hormonal profile showed a testosterone level of 2.30 ng/dl (normal value: 30–50 ng/dl). Sex chromatin testing using buccal smear was found negative. Karyotype analysis was done and it revealed 46, XX. Molecular test to determine the SRY gene in this case was not done.
Ultrasound report revealed undescended right testicle which was not visible in the inguinal canal or abdomen. A clinical diagnosis of undescended testicle (UDT) was established. Intraoperative exploration revealed both ovaries, left Fallopian tube More Details, a viable testicle on the right side, and uterus. Orchidectomy and removal of other Mullerian structures were done at surgery and sent for histological evaluation. The histopathological report confirmed the presence of ovarian, testicular, uterine, and fallopian tissue [Figure 1], testicular tissue [Figure 2], and uterine tissue [Figure 3]. Based on the findings, a diagnosis of TH was confirmed, and the mother was finally counseled to rear the child as a male due to predominant male phenotype. | Figure 1: Fallopian tube and ovarian tissue were fused together (H and E, ×40)
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| Discussion | | |
The pathogenesis of TH has not been fully elucidated. Studies have shown that the presence of both Müllerian and Wolffian structures in individuals with TH could be a result of inappropriate timing of adequate Mullerian-inhibiting factor effect but also inadequate capacity of the Leydig cells to synthesize testosterone.[4],[5] Another mechanism leading to TH is mutation of the sex-determining region Y (SRY) gene, which contributes to 10% and especially of 46 XX karyotypes.[5],[6]
Patients with TH can be divided into three categories. Unilateral, if there are both testicular and ovarian tissues (forming one ovotestes or two separated gonads) on one side, and a testis or an ovary in the other side; if there is no gonadal tissue in this latter side, unilateral hermaphroditism is incomplete; (2) bilateral, if testicular and ovarian tissues are present on both sides of the body; and (3) alternate, if there is a testis on one side, and an ovary on the other side.[7] Majority of patients with TH present clinically with ambiguous genitalia, UDT, abdominal pain, hypospadias, cyclic hematuria, amenorrhea, and chordee.[5],[6],[7] Other cases of TH are phenotypically normal, and as they attain maturity, they begin to present with abnormalities such as gynecomastia.[5]
Imaging tests such as pelvic ultrasound and laparoscopic exploration are the commonly routine diagnostic methods in patients with TH. Histological evaluation of the sampled tissues from the patient helps to determine the sex of the patient regardless of the results of karyotype.[1] Cytomolecular tests are performed to study the patient's genetic sex; however, karyotypes are not suitable for selecting the rearing sex of the patient.[3],[4] These tests involve the easiest cytological test such as Barr body testing and other molecular tests such as karyotype analysis, chromatin test, and DNA analysis for detection of SRY gene mutation.[3]
Endocrinological testing for androgen sensitivity assessment and other hormones of reproductive role is also normally considered. Gonadotropin-releasing hormone agonist (GnRHag) for females and anti-Mullerian hormone (AMH) levels for male need to be included in the panel. These two tests are done to evaluate the function of the gonads by comparing the baseline data and after the removal of the aberrant gonadal tissue.[3],[4] The GnRHag test comprises a group of hormones including testosterone, estradiol, luteinizing hormone, follicular stimulating hormone, AMH, and 17-OH progesterone.[5],[6] Assigning sex for which the child will be reared from the beginning has been reported to be a very crucial step in the process of management. The team of health-care professionals consisting of different medical specialists meets with parents or guardians and assigns a sex of rearing based on genital, gonadal, and genetic factors.[1]
The sex of rearing the child is influenced by quite many factors. The fat distribution, pubic hair distribution, and phallus size are the physical features that can be augmented in the process of assigning sex.[4] For example, female sex of rearing is the likely choice when phallic length is below 1.5 cm because an adequate and functional vagina can be more reliably constructed in that setting than a functional penis.[4],[8] Surgical options for reconstruction of a functional sexual organ have been reported to have success in these days compared to the previous time. Different surgical interventions have been put in place for possible corrections of aberrant gonadal organs such as reduction of clitoromegaly as well as the removal of gonads for prevention of occurrence of malignant tumors. Surgical repair techniques including orchidopexy, urethroplasty, and chordee correction have been invented to manage patients with DSD.[9],[10]
| Conclusion | | |
Assigning true sex for patients with intersex disorders especially those with TH brings positive psychosocial benefits as well as prompting removal of gonadal tissues which would lead to the development of gonadal malignancies.
Acknowledgments
We would like to show appreciation for the child's mother, physicians, and the surgeons for their cooperation at the time of gathering the necessary information which was required in the process of preparing the manuscript.
Informed Consent
Written informed consent was first obtained from the mother and a copy of it has been kept by the authors.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form, the legal guardian has given her consent for images and other clinical information to be reported in the journal. The guardian understands that name and initials will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Nil.
Conflicts of interest
There are no conflicts of interest.
| References | | |
| 1. | Tomaselli S, Megiorni F, De Bernardo C, Felici A, Marrocco G, Maggiulli G, et al. Syndromic true hermaphroditism due to an R-spondin1 (RSPO1) homozygous mutation. Hum Mutat 2008;29:220-6.  |
| 2. | Bandopadhyay D, Yogesh R, Arundhati S. Genetic analysis in a true hermaphrodite: A case report. IJBAR 2013;4:933-6. |
| 3. | Grimes CK, Rosenbaum DM, Kirkpatrick JA Jr. Pediatric gynecologic radiology. Semin Roentgenol 1982;17:284-301. |
| 4. | McDonough PG, Byrd JR, Tho PT, Otken L. Gonadoblastoma in a true hermaphrodite with a 46, XX karyotype. Obstet Gynecol 1976;47:355-8. |
| 5. | Mieszczak J, Houk CP, Lee PA. Assignment of the sex of rearing in the neonate with a disorder of sex development. Curr Opin Pediatr 2009;21:541-7. |
| 6. | Hadjiathanasiou CG, Brauner R, Lortat-Jacob S, Nivot S, Jaubert F, Fellous M, et al. True hermaphroditism: Genetic variants and clinical management. J Pediatr 1994;125:738-44. |
| 7. | Salas-Cortés L, Jaubert F, Bono MR, Fellous M, Rosemblatt M. Expression of the human SRY protein during development in normal male gonadal and sex-reversed tissues. J Exp Zool 2001;290:607-15. |
| 8. | Heier J. A review of anatomical presentation and treatment in true hermaphroditism. Best Integr Writ 2014;1:12. |
| 9. | Al-Salem AH, Abusrair HA. True hermaphroditism. Ann Saudi Med 2000;20:40-2. |
| 10. | Greeley SA, Littlejohn E, Husain AN, Waggoner D, Gundeti M, Rosenfield RL. The effect of the testis on the ovary: Structure-function relationships in a neonate with a unilateral ovotestis (ovotesticular disorder of sex development). Horm Res Paediatr 2017;87:205-12. |
[Figure 1], [Figure 2], [Figure 3]
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