About the Congenital Adrenal Hyperplasia Program
What we do
The CAH program provides evaluation, diagnosis and treatment for all children and adolescents with CAH. We have a dedicated, multidisciplinary team of experts, who can address all the unique needs of patients and families. You or your child will receive a comprehensive evaluation, and you will be provided with an ongoing care plan with referrals for additional treatment and therapy as needed. We are also involved in patient support and education, and in research that seeks to bring novel therapies in CAH.
Assessments and treatments for congenital adrenal hyperplasia
Assessments and treatments offered through the program include:
- CAH treatment with steroid replacement. The therapy suppresses the elevated CAH hormones and also treats the cortisol deficiency (also known as adrenal insufficiency) that is linked to CAH. Families are trained in the management of adrenal insufficiency, including detailed information on sick day management and the need for stress dose steroids. Certain 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 the child and the family
- Consultation with a social worker, according to the 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. Families considering having additional children can also schedule a visit with the genetic counselor. They can also consider a consultation with a reproductive endocrinologist.
- Prenatal consults. We see parents who are expecting a baby with a prenatal diagnosis of CAH or who is at risk of having CAH to discuss what to expect when having a child with CAH and how to coordinate care around the birth.
- 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 the individual reaches a young adult age
What to expect as your child grows
CAH is a life-long condition that requires ongoing treatment. The CAH program provides assessment, treatment and guidance at each stage of the child’s life and 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 begin the careful monitoring of that treatment. We train caregivers in the emergency management of adrenal insufficiency (lack of cortisol). 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 and/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 teens have the knowledge and skills to care for themselves independently, and we provide psychology support to help patients manage the emotional aspects of living with CAH as a teenager.
- For young adults, we closely partner with Penn Medicine for treatment of fertility issues and coordinate the transition to adult care.
In all cases, the assessment and treatment approach are highly individualized, based on the symptoms and needs of the child and the concerns of the family.
Other support services
The CAH Clinic team hosts patient/family conferences. Many patients and families 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 the condition.
The CAH clinicians also participate in CAH research. CHOP works with patient support groups, such as Magic Foundation and the Cares Foundation, which seeks to improve the lives of people with CAH and advance quality healthcare through advocacy, education, research and support. The Cares Foundation recognizes CHOP as a Center or Excellence for comprehensive care of patients with CAH.