What are Disorders of Sexual Development (DSDs)?

A difference of sex development is a term that encompasses conditions in which the following exist: a discrepancy between the external genitals (penis, scrotum, vulva, labia) and the internal genitals (testes, vagina, ovaries). Intersex is an older term used for DSD.

What are the types of disorders of sexual development (DSDs)?

There are different types of DSDs:

A person may have been genetically female that is, having two X sex chromosomes but when they are born; their genitals resemble those of males. For example, have an enlarged clitoris that looks slightly like a penis and their labia (lips that encase the vagina) are fused together. The most common medical cause of this type of DSD is a metabolic disorder called congenital adrenal hyperplasia (CAH). This condition also affects other areas of health.
Another form of DSD is in which an individual has genetic maleness, having one X and one Y sex chromosome, but whose genitals are mostly female. Most often, this is due to complete or partial AIS, in which the body functions abnormally in response to being exposed to male hormone production, thus becoming relatively unresponsive to androgens.
In this type of DSD, persons have ovarian and testicular tissue with a chromosome mix of male, female, or a combination of both. The DSD in this condition often demonstrates female and male genitalia.
Sometimes, sexual organs are formed correctly as either male or female, but growth and sexual development are disturbed at puberty. Individuals with this form of DSD have an abnormal chromosome arrangement; for example, they may have a missing or extra X chromosome. Girls with one kind of DSD, called Turner syndrome, are missing an X chromosome and therefore usually are unable to have children and tend to be shorter than people in the general population.

What are the symptoms of DSDs?

People with DSDs can have various symptoms, such as the following:

No genitals at birth. These are also referred to as aphallia and vaginal agenesis.
A genitals that is neither male nor female. For example, an underdeveloped penis or an enlarged clitoris.
Adrenal gland condition
Condition of hormone imbalance
Imbalance of electrolytes
Precocious puberty or late puberty. Puberty starts earlier than usual or later than usual.
Cryptorchidism testis cannot move down the scrotum.
Hypospadias-this is the failure of proper development at the tip of the penis of the end hole of the urethra.

What causes disorders of sexual development?

There are various causes of a child being born with a DSD. Some of these causes include:

Genetic mutation or alteration: These are either inherited, where the mutation has been passed from the biological parent to the child or spontaneous, where the causation is unknown.
Developmental problem of fetal development: This is also known as an error in organogenesis.
Hormone insufficiency: This is when a baby does not make enough hormones or the body doesn't respond appropriately to them as they are expected to. This condition can also occur when another factor prevents hormone production, like a lack of blood flow into the testes or ovaries.
Exposure to certain hormones or medications in utero: This can include things like testosterone blockers.

How are disorders of sex development diagnosed?

Sexual organs that are ambiguous at birth lead to an immediate diagnosis. Other kinds of DSD do not present until puberty. For example, partial androgen insensitivity syndrome is usually diagnosed at birth since the genitals look different. Complete androgen insensitivity syndrome generally goes undiagnosed until a girl fails to menstruate because the genitals appear normal for a female.

Tests used in diagnosing a suspected DSD include:

Pelvic ultrasound or MRI
Test of chromosomes, karyotype test to indicate abnormal
Chromosomes.
Gene mutation test
Hormone test to check the level of hormone

How are DSDs treated?

The treatment for DSD ranges from minimal to severe in individuals. The patient will undergo:

Hormone replacement therapy initiates puberty and also counteracts complications related to DSD like osteoporosis.
Surgical intervention to change the look of the genitals. If not medically necessary, providers postpone final interventions, such as genital surgery, until children are developmentally able to make decisions about their own bodies.
Most children with only mild DSD signs will never require any treatment at all.

Who treats disorders of sexual development?

If your child has a DSD, they'll have interaction with many different providers within various specialties. You might find the following types of professionals making up your child's medical team:

Pediatricians.
Physicians in adolescent medicine.
Pediatric endocrinologists.
Pediatric urologists.
Geneticists.
Pediatric gynecologists.

What are the risks of complications in the presence of DSDs?

Not everyone with a DSD will have health risks. However, some individuals have a greater chance of developing any of the following:

Autoimmune diseases
Congenital heart disease
High blood pressure (hypertension) or low blood pressure (hypotension)
Infertility
Kidney conditions
Metabolic syndrome
Osteoporosis.
Type 2 diabetes.

Can DSDs be prevented?

You can't prevent DSDs. There's no way to know if there's an issue causing a DSD, and there's no way to control which gene mutations you might pass on to your child. It's just something that happens.

What is the prognosis for people who have DSDs?

Individuals with DSDs are at increased risk for many health problems. But with diagnosis and treatment, they live as long as people without DSDs.

How often should I seek help from my child's healthcare provider?

Most diagnoses of DSD occur in the delivery room, though symptoms may not show until puberty or adulthood. If you ever suspect something is amiss, immediately make an appointment with a healthcare provider. They can physically examine your child and do some tests to determine what might be causing his or her condition.

Why Choose Tender Palm Super Speciality Hospital for Disorders of Sexual Development (DSDs) treatment in Lucknow, India?

Tender Palm Super-Speciality Hospital has the most trusted team of Pediatric Urologists with advanced diagnostic equipment and child-friendly care for Disorders of Sexual Development (DSDs) treatment in Lucknow, India. Our Pediatric Urology department follows international safety standards and has years of experience in successfully managing children's Urological diseases.