Ambiguous genitalia, also known as atypical genitalia could be upsetting for parents and could be also attached to social stigma of not knowing the sex of the child at birth. But one must understand that it is a birth defect where the baby's genitalia may not be well formed, or the baby may have general characteristics of both sexes.
The sex of the child is determined at conception where the mothers egg cell and fathers sperm cell combine and form either XX chromosomes or XY chromosomes and it is these combinations which determine the baby's genetic sex.
As we all know females have two X chromosomes while males have one X and one Y chromosome. If a baby inherits the X chromosome from father's sperm which will form into a female fetus (XX) and if a baby gets Y chromosome from father then its a male fetus (XY). The male and female reproductive organs and genitals both arise from the same tissue in the fetus.
Causes:
Causes of ambiguous genitalia:
* Congenital adrenal hyperplasia (CAH). This condition has several forms, but the most common form causes the genetic female to appear male. It causes females to be masculinized due to a deficiency of the enzyme 21-hydroxylase. This is the most common cause of ambiguous genitalia in newborns and is inherited by an autosomal recessive gene.
* Mixed gonadal dysgenesis (MGD) is a condition in which some organs of both sexes are present, like some male structures (gonad, testis), as well as a uterus, vagina and fallopian tubes.
* True hermaphroditism (TH) is a rare condition in which the baby has both ovarian and testicular tissue
* Due to adrenal gland abnormality there is overproduction of male hormones before birth.
* The expecting mother may have had an androgen-secreting tumour while pregnant and the excess of this male hormone affected her baby's genital development.
* It could be due to chromosomal abnormalities, including Klinefelter's syndrome (XXY) and Turner's syndrome (XO).
* Due to some unknown cause/ genetic abnormalities their is impaired testicle development.
* Androgen insensitivity syndromeis a genetic condition characterised by the foetal tissue's insensitivity to male hormones, it affects genital development.
* Leydig cell aplasia
Types of ambiguous genitalia
The different types of ambiguous genitalia include:
For genetic females:
1. The babies have large clitoris that looks like a small penis.
2. The baby may have a concealment of the vagina because the midline groove has closed over.
For genetic male:
1. The baby has ovaries and testicles, and the external genitals are neither clearly male nor female.
2. The baby has ovaries and a penis-like structure or phallus.
3. The baby may have undescended testicles and external female genitals including a vulva.
4. There may be a small scrotum with any degree of separation, resembling labia.
Screening and Diagnosis:
No pre-natal test is developed yet which can detect ambiguous genitalia. Diagnosis of the defect may just involve a brief physical examination of a newborn. The physicians conduct some test at birth to determine the baby's gender and include:
* Blood test
* Physical examination
* Ultrasound scan
* Hormone tests using blood, urine or both
* Genetic tests using blood, urine or both
* Chromosome analysis to determine the genetic sex (XX or XY)
* A genitogram, a special X-ray.
The doctor after looking at all the test results can suggest an appropriate sex for the baby.
Treatment:
First the doctors have to look at the type of the disorder a child is having, after that it will usually include corrective surgery to remove or create reproductive organs appropriate for the gender of the child. Hormone replacement therapy (HRT): Depending on the severity of the condition, hormone therapy alone may be enough to correct the initial hormonal imbalance.
At Home:
The condition has social and and psychological stigma attached to it so parents should decide within a week or so after diagnosis how they want to raise their child, as male or female.
Longterm problems faced by person with ambiguous genitalia:
A person who is born with ambiguous genitalia may face several problems which include, reduced or absent fertility (difficulty or inability to conceive a child), problems with sexual functioning and feelings of insecurity and uncertainty about their gender identity.
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