Differences in Sexual Development
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Differences in Sexual Development

January 24, 2022

Differences of sexual development are a group of conditions where the biological sex (being male or female) of a baby does not match the genital appearance. Shortly after conception, the reproductive organs (called gonads) typically develop into either testicles or ovaries. In males, the testicles make hormones that cause the penis and scrotum to form. In the absence of male hormones, the female fetus develops a clitoris, vagina, and labia.  

Endocrine Connection

There are many causes of DSD:

46, XX DSD occurs when the fetus is exposed to excess male hormones at the time that the genitals form. The most common cause is congenital adrenal hyperplasia (CAH). In this condition, the adrenal glands (small glands above the kidneys) overproduce androgens ("male hormones"). 

46, XY DSD occurs in the fetus when: 

  • The testicles do not develop properly. In such cases, testicles cannot make enough testosterone. They may also have an increased risk for cancer.  
  • The body can’t make or feel the effect of testosterone properly. 

In certain cases, DSD occurs when there is an atypical number or combination of sex chromosomes. Sex organ development can vary according to the type of chromosome variation. DSD may occur as part of a genetic syndrome. In such cases, the individual may have symptoms from other organ systems, such as heart, kidney, or the skeleton.  

Many children with DSD have hypogonadism (i.e. cannot make sex hormones as teenagers and adults) and may need sex hormone replacement to start puberty. They may also develop complications that are seen with hypogonadism, such as increased risk for fractures or cholesterol abnormalities.  

An endocrinologist can help your child:  

  • Establish the diagnosis or cause of DSD 
  • Treat the hypogonadism and its complications 
  • With growth in some children (like Turner syndrome)
  • With the specific endocrine management of certain conditions like congenital adrenal hyperplasia.  

Sex Chromosomes: The X and Y chromosomes. Each person usually has 46 chromosomes, including two sex chromosomes. Most females have two X chromosomes (XX). Most males have one X and one Y chromosome (XY). 

Sex Hormones: Chemicals made by the body that influence sex development and sexual function, including estrogen (a female hormone) and testosterone (a male hormone). 

Gonads: Reproductive organs (testicles and ovaries). At puberty, the testicle makes sperm and male hormones. The ovary releases eggs and female hormones. 

Genitals: External sex organs, such as the penis and scrotum in males, and the clitoris and labia in females. 

Sex Assignment: The sex a child is raised. 

Gender Identity: How people think of themselves—the gender and what the individual identifies themselves as.  

Hypospadias: A condition where the penis does not form, or is very small, and the opening where urine comes out can be at the base of the penis, not at the tip.  

Clitoromegaly: A term used for when a baby has an enlarged clitoris (part of the female genitals) that looks more like a small penis.

Changes in genital appearance after birth is usually the first sign of DSD. In certain cases of sex chromosome testing during pregnancy, there may be a discrepancy between the prenatal sex chromosomes and genital appearance. Finally, some children present later in life with delayed or lack of puberty.  

Your child’s doctor will examine your child and ask about your family’s medical history. The doctor will check your child’s chromosomes with a blood test or by scraping the inside of your child’s cheek. Also, the doctor will measure hormone levels in the blood and possibly urine. Ultrasound tests and scans can sometimes show the internal or reproductive sex organs. Sometimes, doctors might examine tissue samples from the gonads or look at them with a special camera (laparoscope). Extensive genetic testing may also find a faulty gene that can explain the changes in reproductive organ and genital development.  

Sometimes a diagnosis can be made in a few days; other times it takes longer. You may be faced with a choice of whether to raise your child as a boy or a girl. You and your doctor will consider: 

  • The cause of your child’s condition (if the cause can be found) and likely gender identity 
  • The appearance of your child’s genitals 
  • Options for genital or gonadal surgery 
  • How well your child’s gonads are likely to function in the future 
  • Risk for cancer of the gonads as the child grows. 
  • Whether your child will be fertile 
  • Other possible health concerns, such as kidney or heart function, that need to be monitored as the child grows.  
  • Your family’s preferences and cultural beliefs   

The goals of management are to ensure your child’s long-term emotional well-being, future sexual function and potential for fertility, and stable gender identity. A heath care team of experts from endocrinology, urology, gynecology and psychology or psychiatry can help you and your child with decisions about sex assignment, surgery and medical management as the child grows. DSD includes many conditions with different symptoms and needs, and the management plan may vary according to the specific diagnosis and the needs of each child and the family.  

Hormone Therapy: Many children with DSD do not go into puberty on their own and would need sex hormone therapy (i.e. estrogen for those raised as girls or testosterone therapy for those raised as boys), to start and maintain puberty.  

Surgery: Genital surgery to can be delayed until the child is old enough to help make the decision. The choice to forego surgery in infancy or childhood is more commonly accepted today. Removal of gonads in case of increased risk of cancer is done in certain cases. All surgery carries risks, so talk with your child’s doctor if you are considering this option. 

Additional treatments will depend on each individual case. Children with congenital adrenal hyperplasia receive life-long therapy with steroids. Individuals with increased risk for fractures may receive therapies for brittle bones. Fertility can be preserved in conditions like congenital adrenal hyperplasia but is usually affected in other cases. 

  • What is my baby’s sex? 
  • Does my child need treatment now or can we gather information and decide later? 
  • Are there support groups for people dealing with this condition? 
  • Should my child see a pediatric endocrinologist and other specialists? 
  • What will my child's future be if no surgery is performed?  
  • What should we tell friends and family when they are asking about my baby? 


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