Unclear or Atypical Sex Organs Present from Birth

When a newborn has ambiguous genitalia (atypical genitalia), it may not be clear whether the baby is a boy or a girl. This rare birth disorder can occur at various developmental stages as genitals and reproductive organs form in the womb. Babies born with ambiguous genitalia may have poorly formed, unclearly defined or abnormal sexual organs.

Sex chromosomes that are present at conception determine a child’s sex, reproductive organs and sexual characteristics. Despite having a female’s typical XX pair of chromosomes, a newborn girl may be born with genitals that look like a boy’s. A boy with the male’s normal XY pair of chromosomes can be born with organs that resemble a vagina or other female organs. In rare instances, a newborn may have some combination of male and female sex organs.

Causes of Ambiguous Genitalia

Penn State Health pediatric urologists specialize in diagnosing and treating atypical genitalia and other disorders of sex development (SDDs). They can have hormonal, genetic or other causes, including:

  • Certain conditions that interrupt or interfere with normal fetal development of sex organs
  • Chromosomal abnormalities, such as an extra or missing chromosome
  • Enzyme deficiencies or imbalances
  • Family history of ambiguous genitalia
  • Genetic or inherited conditions, such as Turner’s syndrome
  • Medications given during pregnancy
  • Mother’s hormonal imbalances
  • Prenatal hormonal imbalances

Symptoms, Diagnosis and Outlook

The symptoms of ambiguous genitalia vary depending on the cause and nature of the condition. A child’s pediatrician may evaluate symptoms of ambiguous genitalia and refer you to a Penn State Health pediatric urology specialist for evaluation. If you have concerns about your child, you can schedule an evaluation with a Penn State Health urologist.

Symptoms of Ambiguous Genitalia in Females

Female babies with ambiguous genitalia may have these or other abnormalities:

  • Enlarged clitoris that may resemble a penis
  • Labial fusion where the labia (lips of vagina) are joined together and may look like the scrotum (male sac or pouch) or there are fused tissues between the urethra (urinary tube) and vagina

Male babies with ambiguous genitalia may have these or other abnormalities:

  • Shortened penis
  • Undescended testicle
  • Urethral opening (tube carrying urine from the body) in an abnormal location, such as on the side of the penis

Treating Atypical Genitalia

When a child is born with ambiguous genitalia, it’s common for parents to worry or feel confused. However, it’s important to understand that this relatively rare condition is treatable.

Early evaluation, diagnosis and treatment can rule out other potential problems or serious conditions such as congenital adrenal hyperplasia (CAH). Sometimes called salt wasting, CAH is associated with a serious mineral imbalance that can lead to low blood pressure and shock without proper treatment.

The experienced pediatric urologists at Penn State Health screen for CAH and other conditions. Early treatment can also help ease any psychological or emotional concerns sometimes associated with this condition.

Evaluation includes a physical exam and health history. Diagnostic tests vary with the symptoms, type and cause of conditions. They may include:

  • Blood tests to assess hormone levels and chromosomes
  • Imaging tests such as X-ray, ultrasound or MRI scan
  • Minimally invasive biopsy of tissue samples of sex organs

Your doctor will evaluate test results and discuss a treatment plan. Treatment varies and may include consultation with other specialists, such as an endocrinologist, geneticist or psychologist. Your doctor will discuss therapies, which can range from hormonal medications to minimally invasive or other types of surgery.

Our Experts in Care

The experts at Penn State Health Children’s Hospital are committed to providing our pediatric patients with comprehensive and multidisciplinary care.

Find a Doctor Near You

Why Choose Penn State Health for Pediatric Urology Care

Our pediatric urology team treats conditions that involve the urinary tract, bladder, kidneys and sex organs (genitalia). We use the latest technology and treatments to help your child. Our physicians and teams offer high-level care across specialties with sensitivity to the unique conditions and concerns of children.

Pediatric Expertise Across Specialties

The pediatric surgeons at Penn State Health have multispecialty training and experience. Doctors are skilled in performing the most intricate and complex procedures in infants, children and adolescents. Areas of expertise include:

  • Dedicated cross-specialty team of caring pediatric experts before, during and after surgery or other treatments and procedures
  • Minimally invasive surgery (sophisticated instruments and surgical procedures with smaller incisions)
  • Neonatal surgery (premature babies and newborns)
  • Pediatric oncology (cancer care)
  • Pediatric surgical innovation (software and device development)
  • Prenatal diagnosis and treatment (for problems with the baby’s development during pregnancy)

Penn State Health Children’s Hospital: Leading the Way

At Penn State Health, children are cared for by teams that are nationally known for pediatric excellence across medical specialties and subspecialties. Penn State Health Children’s Hospital is:

  • Recognized by the American College of Surgeons (ACS) for exceptional surgical care. Our hospital is one of eight in the nation and the only Level 1 Children’s Surgery Center in Pennsylvania as part of the ACS Children’s Surgery Verification Program.
  • Routinely ranked among the best children’s hospitals in the nation because of our focus on patient care, safety and research. U.S. News & World Report has recognized Penn State Children’s Hospital specialties with top rankings.

Our Research and Clinical Trials Drive Better Care

The pediatric specialists at Penn State Health are leaders in clinical science research. We welcome interested volunteers to consider participating in clinical trials. These studies help our scientists:

  • Improve diagnostic techniques
  • Develop better treatments
  • Collaborate with other researchers to advance care

Learn more about Penn State Health clinical trials.

Support Groups

Support groups provide children and their families an opportunity to connect with others in similar situations. Learn more about the support groups offered at Penn State Health Children’s Hospital.

View All Support Groups

Our Convenient Locations

Find the care your family needs, close to home, at one of our many locations throughout central Pennsylvania.

Find a Location Near You