Ambiguous Genitalia/Intersex

A diverse set of babies.

Ambiguous genitalia, also referred to as intersex or disorders of sexual differentiation, is a rare condition where an infant’s sex organs have not clearly formed as either male or female.  In these situations, the baby’s genitals may be underdeveloped, or have the characteristics of both sexes.  In other situations, their external sex organs do not match their internal sex organs.

x y chromosomes.Background and Attributes


At conception, a baby’s gender is based on their sex chromosomes.  The mother provides an X chromosome.  The father provides either an X or Y chromosome to determine the baby’s gender.  Between the mother and the father, the chromosome combination will create either a female embryo (XX) or a male embryo (XY).

Interestingly, embryos start with two gonads and both the male and female embryos look the same at the beginning.  The gonads evolve and either become testes or ovaries and the embryo will normally develop a male or female reproductive anatomy.  In the case of ambiguous genitalia, the gonads do not evolve normally.

Ambiguous genitalia is a disorder of anatomy development, and some treatments are available.


Ambiguous genitalia may be identified prenatally but is typically identified after birth.  The characteristics of the disorder will vary.  The following chart shows common attributes of the disorder.

Genetically Male Babies (XY Chromosomes)

  • An abnormally small penis 
  • Urethra doesn’t fully extend to the tip of the penis
  • The absence of one or both testicles
  • An empty scrotum with undescended testes   

Genetically Female Babies (XX Chromosomes)

  • An enlarged clitoris resembling a small penis
  • Closed or folded labia
  • Fused labia with lumps resembling a scrotum and testes
  • Abnormal urethral opening

Ambiguous genitalia is also evident when there is a mismatch between the external genital anatomy and the genetic gender (XX or XY) and/or internal sex organs.

Common Causes

As an embryo develops, the sex organs (male or female) develop from the same tissue.  The determining factor of normal sex organ development depends on the chromosome makeup and the presence of different hormones. 

When there is a disturbance in the development of a fetus’s sex organs due to the abnormal presence or absence of certain hormones, ambiguous genitalia conditions advance, causing erroneous development of male or female anatomy.   

Common causes include:

  • Adrenal glands making excess androgen hormones
  • Lack of hormone production 
  • Lack of testosterone cellular receptors in the fetus
  • Maternal electrolyte or hormonal imbalance
  • Maternal tumor
  • Prenatal exposure to androgen hormones
  • Prenatal exposure to hormonal medications

Types of Ambiguous Genitalia

There are many types of ambiguous genitalia. The following chart outlines some of the most common types of the disorder. While this is not an exhaustive list, they are some of the most common causes of ambiguous genitalia.  

Genetically Female Babies (XX Chromosomes)

  • Congenital Adrenal Hyperplasia – Adrenal glands make excess androgen hormones.
  • Placental Aromatase Deficiency – Enzyme problem in the placenta allowing too much testosterone to reach the fetus

Genetically Male Babies (XY Chromosomes)

  • Androgen Insensitivity Syndrome – genital tissues not responding to androgen hormones
  • Testes Abnormalities – Structural problems minimizing testosterone production 
  • 5 Alpha-Reductase Deficiency – Androgen production impairment due to enzyme defect
  • Androgen Insensitivity – Cells are not responsive to androgens

Male or Female Babies (XX or XY Chromosomes)

  • Mixed Gonadal Dysgenesis (MGD) – Some male as well as female structures
  • Chromosomal Abnormalities – Klinefelter Syndrome and Turner Syndrome

Diagnosis and Treatment

Ambiguous genitalia may be diagnosed during prenatal life, soon after birth, and in some cases in the teen years.  Most children, however, are diagnosed at birth.  A proper diagnosis may include the following tests:

  • A physical exam of the sex organs
  • Blood tests identifying the baby’s chromosomes and hormone levels
  • Ultrasound or MRI tests to view the internal organs
  • A genitogram to view inner sex organs
  • A biopsy to view the gonad tissue under a microscope
  • Specific genetic testing
Dr. Joshua Smith

Once a diagnosis has been made, parents can decide on treatments and collect information about sexual development during puberty.  


Treatments for ambiguous genitalia will vary, of course, based on the child’s individual situation.  Most conditions are not life threatening; however, it can create some social problems for the parents and the child. Therefore, a team of experienced specialists may be utilized to provide optimal care for the child.  

The team may include neonatologists, urologists, geneticists, endocrinologists, and psychiatrists.  Surgery by an urologist may be necessary to correct anatomical irregularities.  Other treatments may include medications prescribed by an endocrinologist like Dr. Joshua Smith

Pediatric Endocrinology Specialist

Dr. Joshua Smith is the region’s only specialist in pediatric endocrinology and is specifically trained to properly diagnose and treat ambiguous genitalia conditions. 

If your child has been diagnosed with this condition, call Dr. Smith at 208-523-1122 for an appointment, or fill out the form below.

Appointment Form – Pediatric

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