Ovotesticular Disorders of Sex Development

Conditions of sexual ambiguity in which the individual possesses gonadal tissues of both sexes, tissues from the OVARY and the TESTIS. There can be a testis on one side and an ovary on the other (lateral), or there may be combined ovarian and testicular tissue (ovotestes) on each side (bilateral). The karyotype may be 46,XX; 46,XY; or a mosaic of 46,XX/46,XY. These disorders have historically been called true hermaphroditism.

Also Known As:

Networked: 56 relevant articles (0 outcomes, 7 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Gonadal Dysgenesis (Gonadal Agenesis)
2.	Disorders of Sex Development (Intersexuality)
3.	XX Disorders of Sex Development 46 (Female Pseudohermaphroditism)
4.	Androgen-Insensitivity Syndrome (Testicular Feminization)
5.	Mixed Gonadal Dysgenesis

Experts

1.	de la Muela, Mercedes Sánchez: 1 article (07/2015)
2.	Sathe, Pragati A: 1 article (07/2015)
3.	Pérez-Gutiérrez, José F: 1 article (07/2015)
4.	Sanghvi, Beejal V: 1 article (07/2015)
5.	Bandgar, Tushar: 1 article (07/2015)
6.	Sánchez-Calabuig, María J: 1 article (07/2015)
7.	García-Pérez, Enrique: 1 article (07/2015)
8.	Kasaliwal, Rajeev: 1 article (07/2015)
9.	Budyal, Sweta R: 1 article (07/2015)
10.	García-Botey, Concepción: 1 article (07/2015)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Ovotesticular Disorders of Sex Development:

1.	H-Y AntigenIBA 05/01/1987 - "When the study is done HY antigen is always increased in patients with true hermaphroditism and sometimes slightly increased in their mothers who are phenotypically normal." 01/01/1980 - "H-Y antigen expression in a case of XX true hermaphroditism." 12/01/1976 - "Presence of H-Y antigen and testis in 46, XX true hermaphroditism, evidence for Y-chromosomal function." 03/01/1985 - "A newly developed enzyme-linked immunosorbent assay (ELISA) has been applied to the study of H-Y antigen in cases of XY, XYY, and X,dicY gonadal dysgenesis, testicular feminization syndrome, XXXXY syndrome, and XX true hermaphroditism. " 07/01/1978 - "The status of H-Y antigen was studied in 10 intersexual cases (three pure gonadal dysgenesis with XY genotype, three Klinefelter's syndrome, two true hermaphroditism with XX genotype, two male hermaphroditism) and in 18 normal adult subjects (nine males and nine females). "
2.	Complement System Proteins (Complement)IBA 07/01/2015 - "In summary, the dog presented bilateral ovotestes and a 2n = 78, XX chromosomal complement lacking the sex determining region Y gene, consistent with a diagnosis of true hermaphroditism. " 09/01/1970 - "True hermaphroditism with 46,XX-46,XY chromosome complement. " 07/16/1960 - "The chromosome complement in true hermaphroditism." 12/01/1976 - "Endocrinologic and serologic studies of a 2-year-old child with the chromosomal complement 46,XX and ambiguous genitalia suggested the preoperative diagnosis of true hermaphroditism. "
3.	Testosterone (Sustanon)FDA Link 07/01/1980 - "The blood plasma testosterone content was determined by radioimmunological method in patients with hirsutism, premature sexual maturation, false male hermaphroditism, true hermaphroditism, mixed gonad dysgenesis, adrenogenital syndrome, and also in some mothers of patients suffering from intersexualism and in healthy persons. " 01/01/2002 - "Sequencing of exons 2-8 of the androgen receptor after study of testosterone precursors following human chorionic gonadotrophin stimulation is recommended when gonadal dysgenesis and true hermaphroditism can be excluded." 01/01/2014 - "In this article, we review the current evidence of the fertility potential of patients with: (1) dysgenetic DSD, including pure and partial gonadal dysgenesis, asymmetric gonadal differentiation, ovotesticular DSD and 46,XX testicular DSD; (2) 46,XY DSD due to abnormal testicular hormone production or action, including testosterone production deficiencies, dihydrotestosterone deficiency, androgen insensitivity and defects in anti-Müllerian hormone or its receptor, and (3) 46,XX DSD due to excessive androgen exposure in individuals with no testicular tissue, i.e. "
4.	Androgen Receptors (Androgen Receptor)IBA 01/01/2002 - "Sequencing of exons 2-8 of the androgen receptor after study of testosterone precursors following human chorionic gonadotrophin stimulation is recommended when gonadal dysgenesis and true hermaphroditism can be excluded." 09/01/1997 - "Diagnoses included Drash syndrome with Wilms tumor in infancy (3 patients), partial androgen insensitivity resulting from androgen receptor mutations (2), true hermaphroditism (2), chromosomal aberration (1), deficiency of antimüllerian hormone (1), gonadal dysgenesis (1), partial 5 alpha-reductase deficiency caused by a novel point mutation (1), and XX-male syndrome (1). "
5.	Protein Isoforms (Isoforms)IBA 07/01/1997 - "Nitric oxide synthase immunohistochemistry studies specific for neuronal, inducible and endothelial isoforms of the enzyme were performed on human clitoral tissue obtained from 4 patients (3 with female pseudohermaphroditism and 1 with true hermaphroditism) at feminizing genitoplasty and from 1 phenotypically normal woman at autopsy. "
6.	Nitric Oxide Synthase (NO Synthase)IBA 07/01/1997 - "Nitric oxide synthase immunohistochemistry studies specific for neuronal, inducible and endothelial isoforms of the enzyme were performed on human clitoral tissue obtained from 4 patients (3 with female pseudohermaphroditism and 1 with true hermaphroditism) at feminizing genitoplasty and from 1 phenotypically normal woman at autopsy. "
7.	Mosaic variegated aneuploidy syndromeIBA 01/01/2008 - "Recent studies in the mouse of one such mutation have identified Y chromosome nondisjunction during preimplantation development as the cause of abnormal testis determination that results in a high frequency of true hermaphroditism. "
8.	N 30IBA 11/01/2006 - "On the basis of clinical and investigative evaluation like hormonal and biochemical estimations, imaging studies, karyotype and invasive techniques like genitoscopy, laproscopy, open exploration and biopsy of gonads when indicated, these cases could be categorised as Genetic females with virilisation or FPH (n = 30 cases, 27.5 % Genetic males undervirilised or MPH (n = 57 cases, 52.3 %), Disorders of gonadal differentiation (n = 11, 10.1 %) Nine patients with gonadal dysgenesis and 2 with true hermaphroditism and the syndromic form of ambiguous genitalia (n = 2, 1.8 %). "
9.	XXY syndromeIBA 01/01/2013 - "The most common karyotype is 46,XX. Here, we report the case of a boy with a 46,XX/47,XXY karyotype diagnosed as ovotesticular DSD by gonadal biopsy. " 01/01/1990 - "A 21-year-old "man" was examined because of genital and phenotypic abnormalities: clinical, surgical and laboratory investigations showed a true hermaphroditism, with a quadruple mosaicism 45,X/46,XX/46,XY/47,XXY. " 04/01/1987 - "A phenotypic male with true hermaphroditism and a 46,XX/46,XY/47,XXY karyotype." 11/14/1976 - "[True hermaphroditism with mosaicism 46 XY/46 XX/47 XXY]." 03/01/1968 - "[True hermaphroditism with chromosome mosaicism 46, XX-47,XXY]."
10.	OxidoreductasesIBA 06/01/1976 - "Other intersex abnormalities which must be differentiated include true hermaphroditism, the Swyer syndrome, males with 17-ketosteroid reductase deficiency, and Reifenstein's syndrome." 10/01/2014 - "Presumptive etiological diagnosis of androgen sensitivity syndrome/ 5-alpha reductase deficiency, testicular biosynthetic defect/ leydig cell hypoplasia, partial gonadal dysgenesis, ovotesticular DSD, XX testicular DSD, mixed gonadal dysgenesis, testicular vanishing syndrome, klinefelter syndrome, hypogonadotropic hypogonadism, isolated hypospadias and isolated micropenis was made. "

Therapies and Procedures

1.	Laparotomy 06/01/1994 - "After laparotomy or gonadal biopsy, the diagnosis was 46,XX true hermaphroditism in five, and XX male in 15. " 04/01/1994 - "A case of true hermaphroditism diagnosed at laparotomy." 10/01/1992 - "Laparotomy via right inguinal incision confirmed true hermaphroditism because of finding a right unilateral ovotestis. " 08/01/1981 - "A phenotypic female patients with 46,XY true hermaphroditism and clitoromegaly was found at laparotomy to have normal müllerian structures with a right streak gonad and a left dysgenetic ovotestis that contained a gonadoblastoma. "
2.	Orchiopexy 07/01/2009 - "Laparoscopic technology is recommended in gonad biopsy and orchiopexy during the treatment of ovotesticular DSD." 05/01/2006 - "In two of those the initial diagnosis was changed to true hermaphroditism, and they underwent removal of ovotestis from one side and orchidopexy of the normal testis on the other. "
3.	Transplantation (Transplant Recipients) 12/01/1979 - "Thus XY gonadal dysgenesis, XX male syndrome, and XX true hermaphroditism, for example, may be seen as typifying specific errors of regulation, synthesis, or function of a phylogenetically conserved plasma membrane component heretofore recognized solely as the male-specific transplantation antigen of mice. "
4.	Ovariectomy (Oophorectomy) 09/01/1984 - "Subsequent total abdominal hysterectomy/bilateral salpingo-oophorectomy demonstrated true hermaphroditism manifested by a right ovotestis, a left streak gonad, and Mullerian structures on the right despite the presence of testicular tissue. "
5.	Orchiectomy (Orchidectomy) 05/01/2006 - "Three patients with total gonadal dysgenesis (TGD) underwent laparoscopic gonadectomy and one with true hermaphroditism underwent laparoscopic biopsy followed by bilateral inguinal orchiectomy with preservation of the ovarian tissue. "