Patients with true hermaphroditism may be diagnosed during infancy or adolescence, depending on the extent of the deviation from the normal male or female phenotype that they exhibit. The spectrum of clinical presentation, focusing on the genital areas, varies greatly. Some individuals may manifest as normally female or male, but the vast majority display aberrantly shaped genitalia that cannot be easily categorized under one of the two sex categories [1] [2].

Newborns affected by true hermaphroditism have labioscrotal folds, which may contain a palpable mass, either testis or ovotestis; such a clinical finding is relevant to the disorder. An ovotestis is present in more than 60% of the cases and constitutes a combination of ovarian and testicular tissue, with the latter situated centrally and the former in a polar location [3].

True hermaphroditism is primarily diagnosed during adolescence, as the physical development process renders genital irregularities more prominent. Specifically, a male adolescent is expected to evince feminization, such as a feminine sexual hair pattern. Female patients manifest with virilization during puberty, including excessive facial hair, small-sized breasts, loss of female fat distribution and abnormal genitalia [4]; a vagina exists in a small number of patients and has a common urogenital sinus with the urethra. In female patients, if a uterus exists (a possibility that cannot be accurately defined), it is usually accompanied by complications, such as uterine hypoplasia, cervical atresia or hemiuterus. The patient may menstruate or have symptoms related to an outflow blockage. In the case of male victims, hypospadias with bifid scrotal folds is a frequent finding; chordee can also be encountered. Individuals who have undergone a male sex assignment surgery during infancy may manifest with abnormally large breasts during adolescence [5].

• Virilization

  Male pseudohermaphroditism can occur due to many reasons, common to all of which is defective virilization of the male embryo. [sonoworld.com]

  If the karyotype 46 XY, and the absence of the uterus and upper third of the vagina should think about the syndrome of incomplete virilization. [eurodoctor.ucoz.com]

  In males results were poor due to intractable micropenis and minimal virilization. Results were good in 5alpha-reductase deficiency. [ncbi.nlm.nih.gov]

  Female patients manifest with virilization during puberty, including excessive facial hair, small-sized breasts, loss of female fat distribution and abnormal genitalia; a vagina exists in a small number of patients and has a common urogenital sinus with [symptoma.com]

  The virilization of the external genitalia can be complete at birth, but the testes are missing in the scrotum. [embryology.ch]

• Fishing

  The gonadal mosaicism was demonstrated directly in gonadal tissue by interphase FISH. [ncbi.nlm.nih.gov]

  Our results using PCR and FISH analyses reveal the presence of hidden mosaicism for SRY or other Y sequences in some patients with XX true hermaphroditism and confirms that mosaicism for SRY limited to the gonads is an alternative mechanism for testicular [springerlink.com]

• Swelling

  Four months later he had testicular pain and swelling. US revealed bilateral multiseptate cystic masses. After repeat surgery, he is now free of symptoms. [ncbi.nlm.nih.gov]

  Consequences of a 5 a -reductase deficiency : When no DHT is formed, no complete fusion of the genital swellings occurs, leading to scrotal hypospadia (opening of the urethra in the scrotal region). [embryology.ch]

• Surgical Procedure

  Cytogenetic, molecular cytogenetic, and molecular DNA analyses were performed on the blood, skin, and left and right gonadal tissue from 2 surgical procedures. [ncbi.nlm.nih.gov]

  In older individuals the accepted gender may be reinforced by the appropriate surgical procedures and by hormonal therapy. This article was most recently revised and updated by Kara Rogers, Senior Editor. [britannica.com]

• Developmental Disorder

  This consists of a developmental disorder of the testes with a masculine phenotype and a 47, XXY genotype (80%) or, in 20%, a mosaic with 4 5, XY / 47, XXY genotypes. [embryology.ch]

• Hirsutism

  An unusual feature of this patient was the absence of hirsutism in spite of increased serum testosterone level and clitoromegaly. [ijem.in]

• Confusion

  Hermaphroditism is not to be confused with pseudohermaphroditism, in which an individual has only one kind of gonad but has significant secondary sex characters typical of the opposite sex. bilateral hermaphroditism that in which gonadal tissue typical [medical-dictionary.thefreedictionary.com]

  Intersex states are rare but if unsuspected may cause diagnostic confusion. We describe one such patient with true hermaphroditism which was misdiagnosed on computed tomography (CT). [ncbi.nlm.nih.gov]

  INTRODUCTION There is much confusion about the nomenclature for patients with gonadal dysgenesis. [nature.com]

• Clitoromegaly

  The presenting symptoms were ambiguous genitalia (6 patients), isolated clitoromegaly (1 patient) and hypospadias (1 patient). The most common karyotype was 46,XX (6 patients). [ncbi.nlm.nih.gov]

  Tanner staging was B2P4A1 and clitoromegaly had regressed from 5 to 4 cm. [ijem.in]

  Clinical: hermaphrodites raised as males come to attention at puberty when they develop breasts (95%) or have periodic hematuria; hermaphrodites raised as females come to attention for clitoromegaly or irregular menses. [auanet.org]

  They may include: Ambiguous genitalia Micropenis Clitoromegaly Labial fusion Undescended testes Hypospadias Electrolyte abnormalities Delayed, absent or abnormal pubertal changes Diagnosis There are several diagnostic tests that may play a role in identifying [news-medical.net]

• Cryptorchidism

  In all patients with penoscrotal hypospadias and cryptorchidism with 45,X/46,XY mosaicism, the possibility of true hermaphroditism should be considered. [ncbi.nlm.nih.gov]

  Studies pertaining to cryptorchidism and testicular cancer risk were retrieved by searching MEDLINE, BIOSIS and the Cochrane Library, using cryptorchidism as a keyword, combined with treatment, orchiopexy, testis and cancer. [scienceopen.com]

  There are two forms of this disease: hypospadias, which is characterized by abnormal development of the urethra; cryptorchidism, when the abnormal development characteristic of male gonads (testicles). [medicalj-center.info]

• Primary Amenorrhea

  We documented a new case of 46,XY true hermaphroditism in an 18-year-old patient, reared as a female at birth, with ambiguous genitalia and primary amenorrhea. At laparotomy, bilateral dysgenetic ovotestis containing gonadoblastoma were found. [ncbi.nlm.nih.gov]

  True hermaphrodite presenting as primary amenorrhea. Indian J Endocr Metab 2012;16:640-2 How to cite this URL: Palo LB, Daniel M, Padma A, Sahoo JP. True hermaphrodite presenting as primary amenorrhea. [ijem.in]

  Primary amenorrhea and virilization in a true hermaphrodite with a rare dicentric Y chromosome. Obstet Gynecol. 1984 Sep. 64(3 Suppl):64S-67S. [Medline]. Sugimoto S, Igarashi T, Tada M, et al. [emedicine.medscape.com]

  Sloan MS, Rosenberg SM, Brown JA (1984) Primary amenorrhea and virilization in a true hermaphrodite with a rare dicentric Y chromosome. Obstet Gynecol 64:64S-67S PubMed Google Scholar 116. [link.springer.com]

The complete workup involved in diagnosing true hermaphroditism entails cytogenetic studies, hormonal laboratory evaluation, imaging studies and laparotomy or laparoscopy.

Cytogenetics

The karyotype most commonly associated with true hermaphroditism is 46 XX, followed by 46 XY. Other, rarely occurring karyotypes include a 46 XY/46 XY mosaicism. Cytogenetic studies are further completed by fluorescent in situ hybridization for occult Y-DNA. The 46 XX karyotype is the predominant one in up to 9 out of 10 patients [6].

Laboratory studies

Patients with true hermaphroditism exhibit normal values of serum 17-hydroxyprogesterone; abnormal concentrations can direct the diagnosis towards congenital adrenal hyperplasia (CAH). Basal levels of testosterone, androstenedione, dehydroepiandrosterone sulfate and dihydrotestosterone (DHT) are also measured in order to reveal occult testicular tissue. After a 5-day administration of human chorionic gonadotropin, the aforementioned hormones are again measured; elevated testosterone levels indicate that testicular tissue is present. An equivalent test is carried out in order to discover ovarian tissue, in which elevated levels of estradiol following the administration of clomiphene citrate or gonadotrophin reveals the presence of female reproductive tissue. A genital skin biopsy can illustrate a potential androgen insensitivity.

The presence of gonads which cannot be decided from the clinical examination can be detected with the use of genital ultrasonography (US). A genitogram will help to define the margins of a potential uterus (should it exist). Presently, the abdominal US, a computerized tomography scan (CT) and magnetic resonance imaging (MRI) are powerful tools to discover internal reproductive organs.

True hermaphroditism can be diagnosed before birth, with the help of amniocentesis, if the fetus features a 46 XX/46 XY or 46 XX/47 XXY or a 46 XX karyotype [7]. Any patient affected by the disorder is considered male or female, depending on penile length [8].

Plastic surgery is the mainstay after gender is assigned, based on genetic sex, gonadal sex, social sex, psychologic sex and patient request Conservative gonadal surgery with long term followup ( J Urol 2007;177:726 ) Case series on surgical treatment [pathologyoutlines.com]

PURPOSE: To improve treatment policy, we retrospectively evaluated the results of early corrective genital surgery in 63 sexually ambiguous patients 14 to 38 years old. [ncbi.nlm.nih.gov]

Prognosis With appropriate corrective surgery, the appearance of external genitalia may appear normal. However, other problems such as virilization may appear later in life. [encyclopedia.com]

The prognosis depends on the specific cause of intersex. With understanding, support, and appropriate treatment, overall outlook is excellent. [medlineplus.gov]

The aim of our study on 11 families with histologically proven XX true hermaphroditism was to determine whether a common genetic or environmental etiology could be identified. [ncbi.nlm.nih.gov]

The exact etiology of ODSD is unknown but is largely believed to be genetic based. Sex determining region on the Y chromosome (SRY) is responsible for testicular development in the male fetus. [lecturio.com]

The etiology and pathogenesis of the true hermaphroditism is completely unknown. This disease is not hereditary, as in all cases, brothers and sisters patients developed normally. [medicalency.com]

Rosenberg SA (eds): AIDS: Etiology, Diagnosis. Treatment, and Prevention. ‏ الصفحة 190 - Nonspecific vaginitis. Diagnostic criteria and microbial and epidemiologic associations. Am J Med. ‏ الصفحة 193 - Henson D, Tarone R. [books.google.com]

They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]

The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.com]

Definition / general Ovarian and testicular tissue in the same individual (either bilateral or unilateral ovatestes or separate testis and ovary) with or without abnormal genitalia Epidemiology Very rare, with only about 500 cases identified worldwide [pathologyoutlines.com]

Epidemiology of Ovotesticular Disorder of Sexual Development Ovotesticular disorder of sexual development(ODSD) is a rare condition that is responsible for only 10% of the cases of ambiguous genitalia. [lecturio.com]

Epidemiology of hypospadias in Europe: a registry-based study. World J Urol. 2015;33(12):2159-2167. doi: 10.1007/s00345-015-1507-6. [ Links ] 7. [scielo.org.co]

Etiology and Pathophysiology of Ovotesticular Disorder of Sexual Development ODSD is a genetic condition that is characterized by: the presence of an ovotestis gonad, the presence of a normal ovary in one side and an ovotestis gonad on the other, the [lecturio.com]

Reproductive endocrinology, physiology, pathophysiology, and clinical management. 4th ed. Philadelphia: W.B. Saunders; 1999. p. 153–190. 20 Larsen WJ. Development of the urogenital system.In: Larsen WJ, editor. Human embryology. 2nd ed. [nature.com]

Pathophysiology People with ovotesticular disorder of sexual development are individuals who have both ovarian and testicular tissue. This diagnostic nomenclature is applied regardless of the peripheral karyotype. [emedicine.medscape.com]

The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.com]

The high testosterone production did not prevent the appearance of a positive oestrogen-LH feedback. The relative peripheral insensitivity to testosterone, is, in some ways, inconsistent with the presence of receptors for androgens. [ncbi.nlm.nih.gov]

Its management involves surgical correction of the external genitalia and treatment with appropriate glucocorticoids to prevent the consequences of its deficiency and arrest rapid virilization. [sonoworld.com]

[…] demonstrated that the derivative X chromosome carries the sex determining region normally seen on the short arm of the Y chromosome.Patient was diagnosed to be an SRY + XX true hermaphrodite.He underwent bilateral orchidectomy with prosthetic replacement to prevent [endocrine-abstracts.org]

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