Your Child’s STRIVE for Kids Appointment

Patients come to the STRIVE for Kids Program for evaluation and second opinions. Most are referred to us by primary care pediatricians or specialists, but families can also directly request an evaluation.

To schedule an appointment for your child, call either Endocrinology at 215-590-3174 or Genetics at 267-426-7418. We look forward to working with your family and caring for your child. This page will detail what you can expect at your first visit to the STRIVE for Kids Program clinic, testing that may be needed and additional resources for your family.

Arriving at your child’s appointment

The STRIVE for Kids Program clinic is in the Buerger Center for Advanced Pediatric Care, located at 3500 Civic Center Boulevard in Philadelphia (across the street from Children’s Hospital of Philadelphia’s Main Hospital). You can park in the Buerger Building parking lot below the building. Take the Buerger parking lot elevators to the first floor, then check in at the front reception desk. Concierge staff will give you a badge to wear and direct you to a second set of elevators to the 7th floor (Endocrinology). Once on the 7th floor, please check in at the front desk, then wait in the designated area. A nurse or staff member will call you when it’s time to go to your child’s exam room.

During your child’s appointment

A nurse or medical assistant will measure your child’s height, weight and gather any other specific details, then show you to the exam room. There your family will meet with various clinicians on the STRIVE for Kids team. Depending on your concerns about your child’s confirmed or suspected condition(s), the following clinicians will meet with your family:  

• An endocrinologist: Endocrinologists are physicians who best understand hormones – specifically those related to puberty, growth, thyroid and others.
• A geneticist and genetic counselor: Genetic physicians and counselors work to uncover the genetic cause of your child’s condition, and then evaluate what that means for future planning for your child and family.
• A psychologist: Pediatric psychologists can help your family better understand the condition your child has, provide support, help you cope and adhere to medical treatments, and can provide screening for any developmental concerns you may have about your child. Psychologists can also screen your child for anxiety, depression or other mental health concerns – whether related to their diagnosis or not – and support your family through any medical decision-making. You must consent to the psychologist’s visit. If you have questions or concerns about your family’s visit with the team psychologist, please contact us at 215-590-7555.
• A social worker: Social workers can help patients and families cope with the knowledge of their condition. They can help in obtaining school supports (i.e., early intervention, individualized education plan (IEP), or 504 plan), assist with FMLA paperwork for parents or guardians, help with insurance support, and connect you to peer support and mental health resources.

These clinicians will review previous medical records with you, ask you questions about your child’s medical history, and perform a detailed physical exam. They will then provide your family with a recommendation for on-going support and care, which may include continued evaluation and treatment at CHOP.

Arriving for a urology evaluation

Many of our families need to have a consultation with Urology. The urology clinic is also located in the Buerger building on the 9th floor. Initial consultation with pediatric urologists may be necessary to help determine (through imaging and sometimes surgery) which internal and external genital organs are present and if there is a potential cancer risk and/or fertility concern. Based on your child’s specific DSD diagnosis, surgery may be an option and will be discussed with the patient and family, as well as entire STRIVE care team.

After your child’s visit

Follow-up visits will depend on the conditions or traits that the STRIVE Program is monitoring or treating in your child, and may include:

• Endocrine: Your family will typically follow up with an endocrine provider every 3 months, 6 months or yearly.
• Genetics: The genetic physician or genetic counselor will usually follow up with your family yearly – although sometimes more often as we try to understand the cause of your child’s condition.
• Psychology/Social Work: You will be encouraged to schedule annual consultations for your child with the psychologist and/or social worker of our team. These visits can happen more frequently if there is a specific need.
• Urology: Depending on your child’s specific DSD diagnosis, you may be asked to follow up with the urologist every 3 to 6 months, yearly or less frequently as appropriate.

We aim to coordinate your medical visits at the same time – generally within the STRIVE for Kids clinic – but this may not always be possible. Psychology and genetics follow up appointments are sometimes available by telemedicine.

Follow up testing

In some cases, we may ask for additional testing to be performed so we can better understand your child’s condition, how their condition is affecting their life, and explore potential treatments.

Bloodwork, imaging and genetic testing can all provide valuable pieces of information to help us best monitor, treat and follow your child.

Testing offered may include:

• Imaging studies such as ultrasounds or X-rays
• Bloodwork to examine hormones, especially around the period of mini puberty of infancy if the scheduled visit is when your child is about 2-3 months of age
• Bloodwork for genetic testing

Part of your child’s evaluation may include the discussion of and sending genetic samples to determine if the child’s differences have a genetic component.

Genetic testing includes a blood draw, and may include:

• A karyotype (examining on a large scale someone’s chromosomes, to see if any large pieces of DNA are missing or duplicated)
• A SNP microarray (examining on a smaller scale than a karyotype someone’s chromosomes, to see if any smaller pieces are missing or duplicated)
• Single gene testing (examining a single gene of suspicion, dependent on your child’s differences)
• Genetic panel testing (examining multiple genes of suspicion under a larger umbrella [i.e., multiple genes all causing 46, XY Differences of Sexual Development, or multiple genes that can cause Monogenic Diabetes of the Young, depending on your child’s differences])
• Whole exome sequencing (large scale genetic testing that examines all of someone’s genes and well as examining copy number variations, to maximize the chance of finding a genetic difference)

From genetic testing, we can receive results back that are:

• Positive, otherwise known as diagnostic, showing your child has the particular gene variant tested
• Negative, meaning no genetic answer was identified, or
• An uncertain change, which generally leads to more testing

While we suspect most – if not all – differences of sex development have a genetic origin, currently we do not know all the genes that cause differences of sex development. Because of this, a non-diagnostic genetic test does not rule out a genetic cause for someone’s differences. We encourage those families to keep in touch with our STRIVE team, as further genetic testing may be available at CHOP in the future that is not available today.