Overview
A disease in which both ovarian and testicular tissues are present in an individual’s body, and the sex of the external genitalia is unknown, and there may be cryptorchidism, hypospadias in males, and hypertrophy of the clitoris in females, etc. Mostly due to chromosomal anomalies, most of which are treated by surgery with hormone therapy.
Definition
Ovotesticular dysgenesis, also known as true hermaphroditism, is an abnormality of sexual development in which both ovarian and testicular tissues are present in a single organism, and is clinically rare.
Both ovarian and testicular tissues can secrete hormones, and the development of secondary sexual characteristics is mainly determined by the dominant hormone, and the external genitalia are intermediate between male and female and differ greatly.
Karyotypes include 46XX, 46XY, 46XX/46XY, or other chimeras.
Typing
According to Himmans gonadal typing, it can be categorized into the following three types.
Bilateral type: both gonads are ovotesticular in about 20% of cases.
Unilateral: one gonad is ovotestis and the other is ovary or testis, about 40% of the cases.
Split lateral type: one gonad is ovarian and the other is testicular, about 40% of the cases.
Causes
Causes
The etiology of the ovotesticular type of dyspareunia is not fully understood and there may be several possibilities.
Monochromatic sex chromosome mosaicism, caused by chromosome errors during meiosis or mitosis.
Non-monochromatic chromosome mosaicism, which is the result of the fusion of two fertilized eggs or of two fertilizations.
Y-ward-X or Y-ward-autosomal ectopia.
X-linked or autosomal gene mutation with Y chromosome function.
Symptoms
Main Symptoms
The clinical manifestations of the disease are variable and difficult to determine before puberty. Various masculine and feminine manifestations occur after puberty.
The external genitalia are mostly of unknown sex and may present as either female or male.
The development of secondary sexual characteristics will depend on the dominant hormone. If estrogen is dominant, the secondary sex characteristics tend to be female; if androgen is dominant, the secondary sex characteristics tend to be male.
Males may have cryptorchidism, hypospadias, no beard, erect penis, spermatorrhea, blood in urine, and full breasts.
Females may have an enlarged clitoris, a shallow and small vagina, and a small uterus.
Medical Treatment
Department of Medicine
Endocrinology
If the sex of external genitalia is unknown, cryptorchidism or hypospadias in males, or clitoral hypertrophy, shallow and small vagina in females, it is recommended to consult a doctor promptly.
Pediatrics
If the patient is younger than 14 years old when the above manifestations occur, he/she may consult the Department of Pediatrics.
Urology
Male patients are advised to seek timely medical treatment when they present with cryptorchidism, hypospadias, blood in urine, etc.
Gynecology
Female patients are advised to seek prompt medical attention when they present with clitoromegaly, shallow and small vagina, and small uterus.
Preparation for medical treatment
Preparation for medical consultation: registration, preparation of documents, FAQs
Tips for medical treatment
It is recommended to wear loose-fitting clothes and try to avoid wearing dresses and jumpsuits to facilitate the examination.
Preparation Checklist
Symptom list
Pay special attention to the time of onset of symptoms, special manifestations, etc.
Is there any external genitalia of unknown sex?
Do males have cryptorchidism, hypospadias, blood in urine?
Does the female have an enlarged clitoris, shallow vagina, small uterus?
When were the above symptoms noticed? How long have they lasted?
List of medical history
Is there any history of abnormal sexual development among relatives?
Are there any consanguineous marriages?
Checklist
Test results for the last six months, which can be brought to the doctor’s office
Laboratory tests: sex hormone test.
Imaging tests: abdominal ultrasound, abdominopelvic magnetic resonance examination.
Other tests: chromosome test, gonad biopsy.
List of medications used
Medications used in the last 3 months, if available in boxes or packages, bring with you to the doctor’s office
Hormonal drugs: testosterone propionate, testosterone undecanoate, estrogen, megestrol.
Diagnosis
Diagnosis based on
Medical history
There may be a family history of abnormal sexual development.
Clinical manifestations
The sex of the external genitalia is mostly unknown and may present as either female or male.
Males may have cryptorchidism, hypospadias, no beard, erect penis, seminal emission, blood in urine, and full breasts.
Females may have an enlarged clitoris, a shallow and small vagina, and a small uterus.
Laboratory Tests
Sex hormone tests
The most basic assessment includes: luteinizing hormone (LH), follicle stimulating hormone (FSH), prolactin, progesterone, testosterone and estradiol.
There may be low serum testosterone levels, elevated estradiol levels, and elevated LH and FSH.
Karyotyping
Chromosomal karyotyping can determine the genetic sex of the patient.
Most often 46,XX, but also 46,XY, 46,XX/46,XY or other chimeric types.
Imaging
Abdominal ultrasound, magnetic resonance imaging (MRI) of the abdominopelvic cavity
The primary purpose of ultrasound is to explore the location and character of the gonads.
MRI as a complement to ultrasonography has been shown to be superior in recent years, and can be particularly helpful for intra-pelvic structures.
Gonad biopsy
This is the definitive diagnostic method.
A gonadal biopsy can demonstrate the presence of both testicular and ovarian tissue.
Differential diagnosis
Kirschner’s syndrome
Similarities: Kirschner’s syndrome is characterized by tall stature, small and hard testes, and underdeveloped secondary sexual characteristics. It is difficult to identify the sex of the child from the external genitalia alone, and is similar to ovotesticular sex developmental anomalies.
Differences: Kirschner’s syndrome karyotype is mainly manifested as X chromosome polymorphism, the most common is 47XXY, gonadal biopsy only testicular tissue without ovarian tissue can be identified.
Female pseudohermaphroditism caused by adrenocortical hyperplasia
Similarities: Both of them may have varying degrees of masculinization of external genitalia and secondary sexual characteristics.
Differences: In female pseudohermaphroditism caused by adrenocortical hyperplasia, imaging may reveal ovaries but not testes, and due to the combination of congenital adrenocortical hyperplasia, imaging may reveal bilateral adrenal enlargement.
Treatment
Treatment begins with sex determination, followed by surgery supplemented by hormonal therapy according to gender.
Sex determination requires selection based on issues such as gonad type and function, risk of gonadal cancer, external genital morphology, sexual and reproductive potential, and psychological gender and status.
The main goal of gender decision is to align the decided gender with the final self-identified gender in order to prevent great suffering from possible future gender anxiety and gender conflict, as well as to enable better integration into society, reduce psychological and physical trauma for the child and family, and improve quality of life.
Surgery
Gonadectomy
After determining the gender, the scope of surgery is decided, preserving the ovaries or testicles.
Abnormal gonads and underdeveloped testes should be removed at an early stage to prevent malignant changes.
External Genital Plastic Surgery
Repair and reconstruction of congenital malformations and acquired defects of external genitalia to restore near-normal function and appearance.
Medication
After gonadectomy, hormonal medication is often required.
For example, estrogen and progesterone preparations, such as 17 ⁃ β estradiol, medroxyprogesterone, dydrogesterone, are used to maintain the development of female secondary sex characteristics.
Androgenic agents such as testosterone propionate and testosterone undecanoate are used to maintain male secondary sexual characteristics.
Prognosis
Cure
After regular surgery supplemented with hormonal treatment, patients can maintain normal secondary sexual characteristics and psychological stress can be reduced.
If no effective treatment is carried out, the patient may be traumatized and his life may be seriously affected, and his fertility may also be affected.
Harmfulness
Patients may suffer from gender anxiety, gender conflict and other problems, suffer from both psychological and physical trauma, and are unable to better integrate into society.
The disease may cause the patient’s fertility to be affected.
Daily
Daily Management
Dietary management
Food types should be as rich and varied as possible to ensure adequate protein, unsaturated fat, vitamins, minerals and dietary fiber.
Reduce the intake of fast food, such as instant noodles and instant rice.
Try to avoid pickled food, such as pickles, fermented bean curd, dashi, bacon, preserved meat and red sausage.
Try to avoid intake of foods high in saturated fat such as fatty meats and fried foods.
Life Management
Work and rest regularly, ensure sufficient sleep and avoid staying up late.
Regular weekly exercise is recommended, such as brisk walking, jogging, etc. Exercise should be gradual and avoid excessive exercise, or follow the doctor’s guidance to plan the time and choose the program of exercise.
Quit smoking and drinking.
Psychological support
Family members can actively guide and encourage patients to reduce their psychological pressure.
Communicate with the doctor more often, and actively seek psychological treatment for stress or emotional tension.
Follow-up and review
After surgery and hormone replacement therapy, patients need to be closely followed up both psychologically and in terms of gonadal function.
Generally, during the puberty induction period, follow-up once every 3-6 months, mainly to monitor the height, bone age, bone density, sex hormone levels, gonadal development stage, etc. At the same time, we need to pay attention to the side effects of hormone replacement therapy drugs, adjust the dose of hormone therapy, to achieve the optimal balance of growth and sexual development.
The follow-up period can be extended after pubertal development or after reaching adult height.
Regular follow-up, examination and medication are required under the guidance of a doctor.
Prevention
Pregnant women should have regular checkups during pregnancy.
Infants and children need to be examined under doctor’s supervision after birth for early detection of the disease.
Parents should pay attention to the developmental status of their children and pay attention to their physical and psychological changes.