Disorders of Sexual Development

Disorders of Sexual Development are rare conditions in which baby is born with both male and female reproductive organs and/or genitals. In such cases, it is not always possible to differentiate right away whether the baby is a boy or a girl. If your child has a Disorder of Sexual Development, the sex chromosomes may still be female (XX) and male (XY). At the same time, your child’s reproductive organs and genitals may be those of the opposite sex. That leaves the sex assignment unclear or a mixture of both male and female. But intersex traits are not always noticeable at birth, for example, a baby might be born appearing to be female on the outside, but having mostly male anatomy on the inside. Or a baby may have genitals that semm to be in-between the usual male and female type such as a girl born with noticeably large clitoris, or lacking a vaginal opening, or a boy born with a notably small penis, or with a scrotum that is divided so that it has formed more like labia.

In the past, Disorders of Sexual Development were given names such as intersex or hermaphroditism. But not everyone agrees with the word „disorder“ and some people prefer to use terms like „differences in sex development“ or „diversity of sex development“.

HOW COMMON ARE INTERSEX CONDITIONS?

The number comes out about 1 in 1500 to 1 in 2000 births. But a lot more people than that are born with subtler forms of sex anatomy variations, some of which won’t show up until later in life.

The most common type of disorder is congenital adrenal hyperplasia (CAH) and it takes about 70% of all DSD. Female infants with classic CAH have ambiguous genitalia due to exposure to high concentrations of androgens in utero. CAH due to 21-hydroxylase deficiency is the most common cause of ambiguous genitalia in genotypically normal infants. Less severely affected females may present with early pubarche. Young women may present with symptoms of polycistic ovarian syndrome (hirsutism, polycystic ovaries and oligomenorrhea). Males with classic CAH generally have no signs of CAH at birth. Some may present with hyperpigmentation, due to co-secretion with melanocyte-stimulating hormone(MSH) and possible penile enlargement. Age of diagnosis of males with CAH varies and depends on the severity of aldosterone deficiency. Boys with salt-wasting disease present early with symptoms of hyponatremia and hypovolemia and those with non-salting disease present later with signs of virilization.

What are a few examples of DSDs?

• complete androgen insensitivity syndrome (complete AIS, or CAIS)
• partial androgen insensitivity syndrome (partial AIS, or PAIS)
• 5-alpha-reductase deficiency (5-AR deficiency)
• sex chromosome mosaicism
• partial or complete gonadal dysgenesis
• simple virilizing congenital adrenal hyperplasia in people with 46,XX
• vaginal agenesis (sometimes called MRKH syndrome)

HOW ARE DISORDERS OF SEXUAL DEVELOPMENT (DSD) DIAGNOSED?

There are disorders with notable anatomical disturbances that can be seen even prenatally. Some DSDs are discovered in the infant at birth because of noticeable signs, such as undescended testicles or abnormal or unclear genitals. When that occurs, the doctor may order a few tests to confirm the diagnosis. Sometimes there is a time consuming exams to obtain actual gender assignment. The tests may also help the doctor to determine if there are any other medical problems that may need to be treated straightaway. Test may include the following:

• Medical history of the family and of the mother’s pregnancy
• Physical examination of the child’s body carried out by a specialist
• Ultrasound scanning to examine their internal organs
• Hormone level tests and hormone stimulation test
• Urine and blood tests
• X- and Y-probe test to determine sex based on chromosomes
• Endoscopic examination
• MRI or laparoscopy of the abdomen to look at internal anatomy or biopsy of the gonads

In the other cases, DSDs may not be detected early because there may be no obvious signs. Parents may start to have concerns only when they do not notice any puberty changes in an older child. Some children may mature into adulthood with a DSD that neither doctors nor parents noticed.

What if we diagnose DSD during puberty or even later?

Intersex anatomy doesn’t always show up at birth. Sometimes a person isn’t found to have intersex anatomy until she or he reaches the age of puberty, or finds himself an infertile adult. Some people live their entire lives without even knowing.

DOES YOUR CHILD HAVE ANY IMMEDIATE MEDICAL PROBLEMS? IF SO, WHAT ARE THEY AND WHAT ARE THE TREATMENT OPTIONS?

Most children born with DSDs are healthy; they have no immediate medical problems. Most can be taken home safely and joyfully as soon as test results show there are no immediate medical problems. Examples of immediate medical concerns in the newborn are failure of the urine to drain out of the body, or salt-losing in congenital adrenal hyperplasia.

APPROACH TO THE MANAGEMENT OF PEOPLE WITH DSD

Assemble a great team. Your child will need more than just a pediatrician as he or she grows older. The multidisciplinary team can play a critical role in creating a climate of commitment to the health and welfare of children born with DSDs, as well as to their families. Although many children born with DSDs are healthy and require little medical management, having families connected with multidisciplinary teams as early as possible may ensure that familiar, expert care givers will be available when psychological, surgical, or medical needs do arise. We have learnt that peer support is probably the most important thing for parents. Meeting another parent who has lived for years with a child with a DSD will help you realize you are not alone and that your roller-coaster of emotions and experiences is normal. Pediatrician neonatologist is the first doctor to raise a suspicion of DSD. Other doctors in the team are pediatrician, endocrinologist and surgeon/urologist. Besides them there is often a need to consult radiologist, psychologists, social workers, gynecologist and geneticist. All of them have to be highly familiar with DSD conditions.

What are the treatment options?

Medical management of patients with DSD may include hormone treatment, such as:

• Hormone replacement-indicated for patients who are unable to make or use their own hormones. Examples of replacement hormones include the life-sustaining hormones hydrocortisone and fludrocortisone for patients with congenital adrenal hyperplasia (CAH). Estrogen and testosterone are used for development of secondary sex characteristics in males and females
• Hormone suppression- for patients who over-produce sex hormones

Not all disorders require surgical treatment. However, when surgery is an appropriate treatment option, our expert urologists and gynecologists can provide surgical treatment with optimal functional and cosmetic outcomes.

Feminization procedures include the opening of the vaginal cavity to the perineum as in CAH or, androgen insensitivity syndromes, steroidogenesis deficits, enlargement or creation of a vagina either by dilatation or by substitution (bowel, peritoneum), the possible reduction of the genital tubercle for clitoral hypertrophy with nerve preservation, and reconstruction of the perineum. Masculinization procedures include hypospadias surgery or, in rare cases, phalloplasty.

Ovaries are usually preserved unless associated with dysgenetic testicular tissue which may carry a risk of malignancy. Testes are either brought down in boys or removed if dysgenetic with tumour risk or in complete androgen insensitivity syndrome or 5 alpha reductase deficiency. Testicular prostheses can be inserted at puberty at the patient's request. Mullerian remnants can also be removed in boys if they cause urological (infection, dysuria) or gynaecological (menstruation) symptoms.

WHAT COUNTS AS AN “ELECTIVE” MEDICAL PROCEDURE?

An elective medical procedure is one where there is no emergency. An example of an emergency surgery would be a surgery to make a urinary opening for a child who was born without one. An example of an elective surgery would be a surgery to make a girl’s clitoris look smaller. When making medical decisions for your child, you will want to consider what is in his or her best interest. That means you will want to consider what is going to be best for your child in the long run. Parents who choose to wait until their children can decide for themselves hope that waiting will be better for the child than doing the surgery before the child can decide. They may also be concerned that doing the surgery before the child can decide will not take away the hard emotions the child may feel later, when he or she finds out what his or her parents decided. Also they may believe that the surgery will turn out better if it is done when the child is older. Delay elective surgical and hormonal treatments until the patient can actively participate in decision-making about how his or her own body will look, feel, and function.

WHAT ARE THE POSSIBLE CONSEQUENCES OF THESE SITUATIONS?

Atypically developed genitalia can affect not only physical appearance and body image, but also function of the urinary tract, kidneys, gonads and the psychological and psychosexual development of the individual. Therapeutic management of these patients is, therefore, not limited to “cosmetic” surgery as stated in some reports but has a direct impact on:

• connection of the genital cavities to the perineum which may lead to fluid retention early in life and dysmenorrhoea and sexual dysfunction later
• poor penile development and its consequences on sexuality in the adult male
• Enlargement of the clitoris which can alter body image and be associated with painful erections in the female
• Fertility in both males and females
• The risk of gonadal cancers early and later in life
• The risk of urological symptoms such as incontinence and the development of urinary tract infection
• Development of an individual's gender identity and gender role, a multifactorial process in which anatomical appearance likely plays a role

*Will my child be fertile?

Whether or not individuals with DSDs are able to have biological children depends on their particular condition and medical histories. It also depends on what reproductive technologies will be available when your child is deciding whether to become a parent. Although some children may now be considered infertile because of their DSDs, improved technologies may make it possible for them to become biological parents years down the road.