Atypical Genitalia – Symptoms and Causes
Overview
Atypical genitalia, also known as differences of sex development (DSD), refers to conditions where a person’s external genitals don’t match typical male or female patterns. These differences may be noticed at birth or later during puberty.
The main signs include genitals that look unusual, a mix of male and female features, or genitals that don’t match genetic sex. In newborns, this might appear as an enlarged clitoris, fused labia, or undescended testes.
During puberty, signs might include unexpected physical changes or delayed development.
Several factors can cause atypical genitalia:
- Genetic Variations: Changes in chromosomes or specific genes.
- Hormonal Influences: Problems with hormone production or sensitivity.
- Environmental Factors: Certain medications or chemicals during pregnancy.
Testing usually involves blood work, imaging tests, and sometimes genetic analysis. Treatment options depend on the specific condition and may include hormone therapy, surgery, or psychological support.
Signs and Symptoms
Atypical genitalia, sometimes called disorders of sex development (DSD), can present with various physical signs. These signs may be noticed at birth or develop later during puberty.
Common symptoms in newborns include:
- Genitals that appear neither clearly male nor female
- A larger-than-typical clitoris that may resemble a small penis
- A smaller-than-average penis
- Undescended testicles
- The urethral opening is not at the tip of the penis
- An incomplete or closed vaginal opening
During puberty, individuals with atypical genitalia may experience:
- Unexpected physical changes during puberty
- Delayed or absent puberty
- Growth of breast tissue in someone raised as male
- No menstrual periods in someone raised as female
- Excessive facial or body hair growth in someone raised as female
Other possible signs include:
- Hernias in the groin area
- Salt imbalances that can be life-threatening in some cases
- Urinary tract infections or repeated infections
Why Atypical Genitalia Develops
All babies start with the same basic structures in the womb. At about 7 weeks of pregnancy, these structures begin to change based on genetic signals.
The same tissue that becomes a penis in boys becomes a clitoris in girls. The tissue that forms the scrotum in boys forms the labia in girls.
These changes happen step by step over several weeks. Hormones play a big role in this process. Testosterone guides male development, while the absence of testosterone allows female development.
Atypical genitalia happens when the usual pattern of development changes. This can occur for several reasons:
- Genetic factors that affect hormone production
- Problems with hormone receptors that don’t respond normally
- Exposure to certain medications during pregnancy
- Variations in how tissues respond to hormones
These differences can range from mild to more noticeable. Some may be visible at birth while others might not be detected until puberty.
Potential Causes in Genetic Females
In babies with XX chromosomes (genetic females), atypical genitalia may develop from:
| Cause | Description |
|---|---|
| Congenital adrenal hyperplasia (CAH) | The most common cause affects adrenal glands, leading to excess male hormones |
| Maternal medication exposure | Some medications taken during pregnancy can affect development |
| Maternal conditions | Certain health conditions in the mother that create hormone imbalances |
The extra hormones can cause the clitoris to grow larger or the labia to fuse partially, resembling a scrotum.
Potential Causes in Genetic Males
In babies with XY chromosomes (genetic males), atypical genitalia may result from:
- Androgen insensitivity syndrome – when body tissues don’t respond to male hormones
- 5-alpha reductase deficiency affects how testosterone works in the body
- Problems with testicular development
- Defects in testosterone production
Risk Factors
Several factors may increase the chance of atypical genitalia development. These include genetic variations, hormonal imbalances during pregnancy, and family history of similar conditions.
Parents with certain genetic conditions may pass these traits to their children. The risk increases when both parents carry specific genes, even if they show no symptoms themselves.
Exposure to certain medications during pregnancy can affect genital development. These include some hormones, anti-seizure drugs, and certain pesticides. Women taking these substances while pregnant should discuss risks with their healthcare providers.
Maternal health conditions like polycystic ovary syndrome or congenital adrenal hyperplasia may impact fetal development. These conditions can cause hormone imbalances that affect how genitals form before birth.
Environmental factors might play a role, though research in this area continues. Some studies suggest links between industrial chemicals and reproductive development issues.
Age of parents at conception might influence risk in some cases. Advanced parental age has been associated with higher chances of genetic variations that could affect development.
Complications
A child born with atypical genitalia may face various medical and psychological issues. Physical complications often depend on the underlying cause. For example, congenital adrenal hyperplasia can lead to salt-wasting crises.
These crises might cause dehydration, low blood pressure, and even be life-threatening if not treated quickly.
Children with atypical genitalia may face urinary problems including infection, blockage, or incontinence. Some might experience fertility challenges later in life, depending on the specific condition and its severity.
Certain hormonal imbalances can also affect bone development, potentially leading to short stature or early puberty.
