Complications

Complication
Timeframe
Likelihood
short term
low

There may be general complications from surgical procedures to reconstruct the genitalia such as bleeding, infection, dysuria, and obstruction to menstrual flow.

long term
medium

In congenital adrenal hyperplasia secondary to 21 hydroxylase deficiency, the likelihood of infertility is increased especially in those noncompliant with treatment and who have an increased weight.

In other disorders of sexual development, fertility may or may not be maintained.

Bilateral gonadectomy will result in infertility. In mixed gonadal dysgenesis, testicular function is variable.

Male factor infertility

long term
medium

In congenital adrenal hyperplasia secondary to 21-hydroxylase deficiency, inadequate treatment or poor compliance leading to excess androgens can cause the epiphyses to fuse prematurely, with resultant short stature. Treatment with glucocorticoids and monitoring of serum androgen levels on treatment can help attain a greater final height and prevent precocious puberty.

Evaluation of short stature

long term
low

Individuals with a disorder of sex development are at higher risk of developing a gender identity disorder and this must be taken into consideration and evaluated during follow-up.

Gender dysphoria

long term
low

The risk of gonadal malignancy is highest in mixed gonadal dysgenesis where there is Y chromosomal material present and in an intra-abdominal (undescended) gonad. The risk of malignancy in a scrotal testis may also be increased. The testis should be carefully monitored and a biopsy during puberty may be indicated if there are clinical concerns.

Testicular cancer

long term
low

Adrenal crisis can result if individuals with primary adrenal insufficiency are not compliant with glucocorticoid and/or mineralocorticoid replacement, and is characterized by cardiovascular collapse, shock, and, if untreated, death.

Addison disease

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