What is the Late-Onset AGS?

How is AGS diagnosed?

In the classic form, the noticeable changes in girls* often lead to an immediate diagnosis, usually through a blood test. Diagnosing boys*, however, is more challenging due to the absence of obvious changes. Given the life-threatening nature of the condition, many European countries include newborn screening that tests for genetic alterations in the enzyme responsible for AGS, 21-hydroxylase. This approach allows for early detection and treatment of the disease.

For late-onset AGS, screening is also a viable diagnostic method. If screening is not conducted, diagnosis may occur when investigating the causes of infertility later in life or when other symptoms arise [7],[8].

How is AGS Treated?

The treatment approach for both AGS and late-onset AGS involves similar drug therapies. The missing hormones must be supplemented through lifelong medication. Typically, oral tablets are taken two to three times a day. It is crucial to adjust the medication dosage in response to additional stressors like infections, surgeries, or accidents, to meet the body’s increased hormone requirements.

Treatment for Children

In girls* with AGS, surgery on the external genitalia has traditionally been performed between 2 and 6 months of age in specialized centers, depending on the severity of the condition. The goal is to ensure normal genital function in the future. The procedure involves reducing the size of the clitoris and separating fused labia. In some cases, correction of the vaginal opening is also necessary. However, ethical debates have arisen around these surgeries, as intersex genitalia are essentially present, and the child cannot provide consent for potential sex reassignment procedures later in life. Some argue for leaving the vulva untouched and deferring the decision to the individual when they are older. The decision to proceed with surgery or not should be carefully discussed with the medical team, considering individual benefits and risks [9].

Treatment for Adults

In adults, although internal reproductive organs are typically unaffected, fertility might be compromised based on disease severity. Late-onset AGS can remain asymptomatic for a long time, leading to delayed detection. If fertility is reduced and late-onset AGS is diagnosed, treatment is still possible. If pregnancy is challenging, it is advisable to consult an endocrinologist* to optimally regulate hormone supplementation through medication. The physician should also provide guidance during pregnancy to maintain proper hormonal balance.  As AGS is a genetic condition, it is likely that the unborn child will also be affected. Monitoring hormones during pregnancy is vital to minimize masculinization of the genitals in the child. Administering hormones to fetuses without deficiencies can result in severe side effects and deformities. Therefore, hormone therapy should be carefully considered, weighing the benefits against the risks. Hormone supplementation aims to counter the excess production of androgens by providing the missing hormones. Once the child’s sex is unequivocally determined and if it is a boy*, no further therapy is needed. If the child presents with female sexual characteristics, AGS testing should be conducted. If no indications of AGS are found, therapy is discontinued immediately. Otherwise, medication is continued until birth [10],[11].

In a Nutshell

As you see, AGS is highly treatable, and it certainly does not signify an inability to have children. If you suspect that you might have the condition, it is imperative to seek testing without delay. This is particularly crucial if you are nurturing an unfulfilled desire to start a family. Should your suspicion be confirmed, seeking consultation and treatment from an endocrinologist* is strongly recommended.