Genitalia Differences

The term “abnormal,” ambiguous or disorders of sexual differentiation  of the genitalia refers to a range of variations in genital anatomy that may be present in children; some of these variations may make immediate identification of gender difficult.  The sophisticated diagnostic tests that are available in the U.S. can be very difficult to reliably obtain in most referring countries that participate in international adoption. Therefore, the genetic sex of your child may not be made entirely clear until the child is home and part of your family.  When you bring your child home, we will draw labs and make referrals to the appropriate experts to perform the diagnostic workup.  In referrals, we do not frequently see children with genitalia differences, but we do see it occasionally from almost all referring countries. Several of the most common types of genitalia differences are detailed below.

The first consideration for any of the below issues is that the child may need additional psychological and emotional support if the physical changes make them look significantly different from other children.  Also, while many genital changes are idiopathic (i.e., we don’t know why they happen), most are known to be related to hormonal problems that will require additional testing and possibly medical therapies. Surgery may be considered in some cases but is not necessary in all cases. Some milder forms of ambiguous genitalia may not pose any problem for future urinary and sexual function and there is a wide range of “normal” with respect to genitalia. Correction for cosmetic reasons may not be in your child’s best interest and should be considered in conjunction with your medical providers once your child is home.

Hypospadias is a form of ambiguous genitalia that happens in males, sometime in the 2-4th month of gestation. Hypospadias is the condition in which the opening through which urine exits the penis is not at the tip but rather on the bottom surface of the penile shaft.  There is a wide range of severity with respect to hypospadias; some boys have an opening just slightly removed from the tip that causes little to no difficulty with urination whereas others may have an opening near the base of the penis, on the scrotum, or in the perineum (between the scrotum and anus) These more severe cases are called posterior hypospadias.

Boys with posterior hypospadias require a comprehensive lab workup, since recent studies have shown that up to 36% of these boys have chromosomal and/or hormonal abnormalities1.  These children also are at slightly higher risks for musculoskeletal (3.8%), heart (6.4%) and psychological or developmental delays (7.2%) over the general population2.

Studies vary widely but estimate between 10-40% of boys with hypospadias have a hormonal abnormality,3,4 usually in the testosterone pathway. depending on the particular abnormality treatment with testosterone may help.  

Epispadias is a condition that may occur in boys or girls.  In epispadias, there is a failure of the head and body of the penis or clitoris to fuse together normally, leading to a urinary opening on the upper aspect (the dorsum) of the head of the penis in boys or above a split (or bifid, ie two part) clitoris in girls. Epispadias is much rarer than hypospadias but is a much more severe abnormality.   In the most extreme cases it may be associated with bladder exstrophy where the bladder is located outside the body at birth.  Because the genital and urinary systems form at similar times as an embryo, children with epispadias may have significant urinary tract issues early in life and potentially significant problems with sexual function later in life.  This type of abnormality may be surgically corrected in some manner at birth by the home country but the complexity of this type of problem usually means additional evaluation, psychological support, and possibly surgical corrections may be necessary in the USA. 

While the gender of the child is almost always clear in cases of hypospadias and even epispadias, other children have genitals that are not clearly male or female.  These children were formerly classified as “intersex” but the term disorders of sexual development (DSD) is now preferred.   Genetic and hormonal testing is required to determine the chromosomal (or genetic) sex of the child in cases such as these.

The most common cause of DSD is a disruption in hormonal pathways. The most common hormonal disruption is Congenital Adrenal Hyperplasia (CAH), a condition in which the adrenal glands of a developing fetus make an abnormal amount of “male” hormones.  This has little effect on male children but may have a “masculinizing” effect on the genitalia of a female child.  These girls may have markedly enlarged clitorises that may look somewhat similar to a penis.  CAH is most common in caucasiansbut is found in all populations.  It may be associated with potentially serious abnormalities in salt metabolism so specific lab testing is necessary in all cases of CAH.

There are a number of other changes in genital development; in some cases a specific cause can be found with appropriate laboratory testing.  In some other cases it may not be possible to find a specific cause; treatment of the condition is usually still possible in those cases.

If your child has different genitalia, the most important thing is to work with a multidisciplinary team to:

1)    Identify the genetics and chromosomal sex of the child

2)    Undergo lab workup of the metabolic pathways to identify what hormones have been disrupted so as to identify potentially serious but treatable metabolic problems.

3)    Support the child with the physical and emotional implications of differences in their genital appearance and identity.

  

1. Albert N, Ulrichs C, Glüer S, Hiort O, Sinnecker GHG. Etiologic classification of severe hypospadias: implications for prognosis and management. J Pediatr. 1997;131(3):386-392.

2. Wu WH, Chuang JH, Ting YC, Lee SY, Hsieh CS. Developmental anomalies and disabilities associated with hypospadias. J Urol. 2002;168(1):229-232.

3. Aaronson IA, Cakmak MA, Key LL. Defects of the testosterone biosynthetic pathway in boys with hypospadias. J Urol. 1997;157(5):1884-1888.

4. Silver RI. What is the etiology of hypospadias? A review of recent research. Del Med J. 2000;72(8):343-347.

5. Speiser P, Dupont B, Rubinstein P, Piazza A, Kastelan A, New M. High frequency of nonclassical steroid 21-hydroxylase deficiency. Am J Hum Genet. 1985;37(4):650.

 

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Book Author

Judith K. Eckerle, M.D. 
Director, Adoption Medicine Clinic
Assistant Professor of Pediatrics

 

Co-author

Alan W. Shindel, MD