Before your child's first appointment with the Congenital Adrenal Hyperplasia (CAH) Program at Children's Hospital of Philadelphia (CHOP), it is helpful if you provide your child’s previous medical records, including growth charts and any recent and relevant test results, before coming to the clinic. We will provide instructions on sharing those records when you make the appointment.

Because CAH is a life-long condition, your child will have regularly scheduled follow-up appointments with the clinic so we can monitor their hormone levels and make adjustments as needed. We typically require your child to have blood tests prior to the appointment so the information is on hand to inform your child's care.

Treatments for CAH and ongoing assessments

Assessments and treatments offered through the program include:

• Steroid replacement. The therapy suppresses elevated CAH hormones and also treats the cortisol deficiency (also known as adrenal insufficiency) that is linked to CAH. We'll train your family on how to manage adrenal insufficiency, including detailed information on sick day management and the need for stress-dose steroids. Some children also need replacement of the salt-retaining hormone.
• Monitoring for symptoms of CAH and possible side effects of treatment by frequent visits and blood work that measures the CAH hormone levels.
• Developmental monitoring, including growth, bone age and early or delayed puberty.
• Additional hormone treatments, according to the needs of each patient (such as treatment of early puberty, growth concerns, irregular menstrual cycles in adolescent girls and other issues).
• Consultation with a psychologist on an ongoing basis to support both your child and your family.
• Consultation with a social worker, according to your family’s needs.
• Consultation with a urologist, for some infant girls, on potential benefits of surgery.
• Genetic information and counseling are offered at the time of diagnosis, and again when young adult patients consider having children. If your family is considering having additional children, we can help you schedule a visit with the genetic counselor. You may also consider a consultation with a reproductive endocrinologist.
• Referrals to various other specialists at CHOP or the University of Pennsylvania (such as adolescent gynecologists, reproductive endocrinologists and others).
• Transitioning to an adult endocrinologist when your child reaches a young adult age.

What to expect as your child grows

CAH is a chronic condition that requires ongoing treatment. The CAH Program team adjusts its assessment, treatment and guidance to match each stage of your child’s development.

• For babies with CAH, we confirm the diagnosis and initiate treatment with steroids and/or additional hormone replacement therapy in case of salt wasting. We then carefully monitor that treatment. We train parents and caregivers in the emergency management of adrenal insufficiency (lack of cortisol) by giving your child a "stress dose" of steroids. We usually see babies every three months to ensure treatments are on track.
• Through childhood, we monitor growth and development. We watch for symptoms of CAH and possible side effects of treatment, such as weight gain. Based on our assessment, we adjust steroid or other hormone therapies as needed. Monitoring includes physical exams and blood work.
• During adolescence, we want to ensure that puberty progresses normally. We continue to monitor CAH hormone levels. We start education on CAH self-management so your teen has the knowledge and skills to care for themselves independently. We provide psychological support to help them manage the emotional aspects of living with CAH as a teenager.
• For young adults, we closely partner with Penn Medicine for the treatment of fertility issues and coordinate the transition to adult care.

In all cases, the assessment and treatment approach is highly individualized, based on the symptoms and needs of your child and the concerns of your family.

Other support services

The CAH Clinic team hosts patient and family conferences. Many patients and families have told us they appreciate the opportunity to learn about the latest research and treatment options at these conferences and to connect with others who are also affected by CAH.