Pediatric Endocrinology

Building Your Care Team and First Visit Prep

At a Glance

People with aromatase deficiency often benefit from a coordinated team that includes endocrinology, genetics, reproductive specialists, bone health support, and counseling. Bring complete genetic, growth, hormone, imaging, and newborn records to the first visit.

Because aromatase deficiency is a complex, multisystem condition, your care should not rest on the shoulders of just one doctor. Instead, the standard of care involves a multidisciplinary team—a group of specialists who work together to coordinate your treatment ^[1]^[2].

Your Core Care Team

A well-rounded team for aromatase deficiency typically includes:

Pediatric or Adult Endocrinologist: This specialist acts as the “captain,” managing hormone replacement, monitoring growth and puberty, and tracking metabolic health ^[3]^[4].
Clinical Geneticist: They confirm the CYP19A1 mutation and help you understand how the condition is inherited. They also help distinguish “pure” aromatase deficiency from other similar-looking conditions like POR deficiency ^[5]^[6].
Gynecologist or Urologist: For 46,XX individuals, a gynecologist monitors uterine growth and watches for ovarian cysts ^[7]. For 46,XY individuals, a urologist may monitor testicular health and discuss fertility preservation ^[8].
Bone Health Specialist: Because estrogen is so vital for the skeleton, you may see a specialist (often within endocrinology) who focuses on interpreting DXA scans and managing bone density ^[4]^[9].
Psychologist or Social Work Support: Managing a rare diagnosis and a Difference of Sex Development (DSD) is an emotional journey. Specialized counseling is a key part of modern management to support well-being and shared decision-making ^[10]^[1].

Preparing for Your First Specialist Visit

When you see a specialist for the first time, you are often the most knowledgeable person in the room regarding your specific history. Bringing a “medical portfolio” can help the doctor get up to speed quickly ^[11]. Be sure to include:

Maternal History: Any notes on maternal acne, hair growth, or voice changes during pregnancy ^[12]^[13].
Newborn Records: Information on genital appearance at birth (sometimes called a Prader score) and any initial hormone tests ^[3]^[14].
The Genetic Roadmap: A full copy of the genetic testing report (not just a summary) and results from any testing done on parents ^[15]^[7].
Growth and Puberty Data: Longitudinal growth charts showing height over time, as well as records of when pubertal changes began ^[11]^[5].
Imaging and Labs: CDs or reports of pelvic ultrasounds, bone age X-rays, and DXA scans, plus original lab results with their specific reference ranges ^[3]^[16].

Vetting a Specialist

It is okay—and encouraged—to interview your doctors. Because aromatase deficiency is so rare, you are looking for a team that is willing to learn and collaborate with international experts. Helpful indicators of a high-quality center include:

Participation in rare disease registries (like I-DSD)—note that joining a registry is completely voluntary and should include a discussion of privacy and data use ^[17]^[18].
Access to high-sensitivity hormone testing (like LC-MS/MS) ^[19].
A commitment to shared decision-making, where your goals, gender identity, and values are a central part of the treatment plan, and patients are involved in decisions as they mature ^[20]^[21].

Planning the Transition to Adult Care

The move from a pediatric team to an adult team is a major milestone, not a one-time event. Experts recommend planning this transition in early adolescence, though the exact age should be individualized ^[22]^[23]. A successful transition involves creating a comprehensive medical summary and having an overlap period where both pediatric and adult teams are involved in your care ^[24]^[25]. Note: Treatment decisions should not be changed based on this guide alone; always consult your specialized medical team.

Common questions in this guide

Which specialists are usually involved in aromatase deficiency care?

Care is usually coordinated by a pediatric or adult endocrinologist. Depending on the person's anatomy and needs, the team may also include a clinical geneticist, gynecologist or urologist, bone-health specialist, and psychologist or social worker. One clinician should help coordinate communication and the overall plan.

What should I bring to my first aromatase deficiency appointment?

Bring maternal pregnancy history, newborn records, the complete genetic testing report and any parent testing, growth and puberty records, and reports or images from pelvic ultrasound, bone-age X-rays, and DXA scans. Include original hormone and other lab results with the laboratory's reference ranges. This gives the team a clearer picture of the medical history.

How can I choose a specialist or clinic for aromatase deficiency?

Look for a center with a multidisciplinary rare endocrine or Differences of Sex Development clinic, experience with CYP19A1 mutations, access to high-sensitivity hormone testing, and willingness to collaborate with outside experts. The team should use shared decision-making and include the patient's goals, gender identity, and values.

When should transition to adult aromatase deficiency care start?

Planning often begins in early adolescence, but timing should be individualized. A good transition includes a complete medical summary and a period when pediatric and adult teams overlap. Decisions should be made with the patient's medical team rather than from this page alone.

Is participation in a rare disease registry mandatory?

No. Joining a registry such as I-DSD is voluntary, and the team should explain how information will be used and protected before enrollment. Ask questions about privacy and data sharing so you can make an informed choice.

Get notified when new evidence is published on Aromatase deficiency.

We monitor PubMed for new peer-reviewed studies on this topic and email a short summary when something meaningful changes.

Key takeaways

A coordinated multidisciplinary team is recommended for aromatase deficiency because the condition can affect hormones, growth and puberty, bone health, metabolism, and reproductive development.
The core team often includes a pediatric or adult endocrinologist, clinical geneticist, gynecologist or urologist as appropriate, bone-health specialist, and psychologist or social worker.
Bring maternal pregnancy history, newborn records, full genetic reports, growth and puberty charts, imaging, and original laboratory results with reference ranges to the first visit.
Look for a center with rare endocrine or DSD clinic experience, CYP19A1 expertise, high-sensitivity hormone testing, and shared decision-making.
Begin planning the transition to adult care in early adolescence, with individualized timing, a medical summary, and an overlap period between pediatric and adult teams.

References (25)

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This page is for informational purposes only and does not constitute medical advice. Your specialized care team should guide genetic evaluation, hormone care, bone monitoring, and transition decisions for you or your child.