Cook Children's Congenital Adrenal Hyperplasia Program

Care coordinators: 682-303-1378

Choosing our program

CAH research

Cook Children’s Congenital Adrenal Hyperplasia (CAH) program is an exceptional collaboration between endocrinology, urology and behavioral health specialists. Our years of training, extensive research and dedicated practice have gained us recognition as experts in the care of children from birth through adolescence with this inherited metabolic condition.

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Because of the complexity of this condition, and the sometimes difficult challenges and decisions facing families, Cook Children's CAH program includes an amazing team of specialists to provide the best treatment and family support available.

Dr. Paul Thornton

Choose Cook Children's Congenital Adrenal Hyperplasia Program

Congenital Adrenal Hyperplasia (CAH) is a complicated genetic disorder that can have a lifelong impact on a child's growth and development. Many CAH patients have complex conditions requiring intervention from both endocrinology and urology. Our program takes a very unique approach to CAH by combining our Endocrinology and Pediatric Urology programs along with additional interdisciplinary specialties to provide patients with the very best possible outcomes from the time they're diagnosed, to ensuring long-term quality of life.

By breaking down those silos, we have a higher level of communication and care. Plus, we are able to coordinate our patients' medical, psychosocial, education and emotional support needs, dramatically improving their quality of care.

When you entrust your patient's care to our Cook Children's team, you can rest assured that they are getting care that is specifically tailored to their needs.

Partnering with you

From the moment you contact us, you'll feel the commitment of our team. We believe that the best patient outcomes start with building strong working relationships with all of the child's caregivers, including you. When you refer a patient to our program, you can trust that we’ll not only keep you well informed, we’ll include you as part of our team. We want and respect your involvement at every stage of the patient’s care. You’ll stay informed via our physician portal, and weekly phone or teleconferences.

When it’s nearing time for your patient to return home, you’ll be the primary provider, but that doesn't mean we won't be there to support you and your patient. We’ll prepare you to deal with any situation that may arise, and we'll always be just a phone call away.

Multiple locations

Cook Children’s has an interdisciplinary team of providers serving patients across 16 different locations, including Fort Worth, Abilene, Alliance, Amarillo, Dallas, Denton, Hurst, Lewisville, Mansfield, Midland, Plano, Prosper, San Angelo, Southlake, Tyler and Waco. Virtual health is also available. These options can help to ensure that established patients can see their Cook Children’s endocrinologist in a way that's convenient for them.

The CARES Foundation recognizes Cook Children's Congenital Adrenal Hyperplasia Program as one of only eight Centers of Excellence in the nation. We are proud of this Level 2 designation. As an elite recipient of this award, we will continue to participate in the latest CAH research to help improve the lives of patients and their families diagnosed with this condition.

Our innovative approach

Hear what our CAH team has to say in this round table discussion about the impact our unique program has on the lives of our patients and their families. And how it's changing the model of care for CAH patients.

Congenital adrenal hyperplasia research. Leading change through collaboration.

Cook Children’s CAH team works with leaders in pediatric health care to give patients with even the most complex cases every opportunity at living a productive, fulfilling life. But our research goes well beyond that, encompassing the social and emotional impacts on parents as well as patients and incorporating what we learn into into a well-rounded approach to care. We also share this information with our health care peers through publications and presentations in order to develop further understanding of this rare diagnosis with the goal that widening knowledge of CAH can help to improve both the initial and long-term impacts on patients and their families.

Short-term Outcomes of Interventions for Reproductive Dysfunction: Study 1, 2 and 3.

The purpose of this study is to continue to gather information regarding the long-term risks and benefits of genitoplasty procedures currently performed in young children with disorder of sex development (DSD) and congenital adrenal hyperplasia (CAH) as well as the impact of these decisions on behavioral development of affected children and their parents. We would like to examine the child’s bladder control and behavioral development and review any other complications or problems that may have occurred post-surgery. Also, we will review parent adjustments, as these relate to the surgical history. We will assess both parents and children annually until the child reaches age 10.

The sponsor of this study plans to include about 100 participants and 200 parents nationwide in this research project. About 9 children and 17 parents will be enrolled from Cook Children’s Health Care System.

Lastly, we will administer a hearing test measure of an otoacoustic emissions (OAE) to determine if there is a relationship between gender development and the results of the hearing test in people with DSD and CAH. The sponsor of this study plans to include about 40 participants nationwide in this research project.

Development of an Internet-delivered Illness Uncertainty Intervention for Caregivers of Children with a DSD or CAH: A Multi-center Collaboration.

The purpose of this research is to develop an online program that can be used by parents of children with a difference of sex development (DSD) or congenital adrenal hyperplasia (CAH) to help them cope with their feelings about their child's diagnosis.

The sponsor of this study plans to include about 80 participants nationwide in this research project. About 50 will be enrolled at Cook Children's Medical Center.

A Randomized, Double-blind, Placebo-controlled, Dose-ranging Study to Evaluate the Efficacy and Safety of SPR001 (Tildacerfont) in Adult Subjects with Congenital Adrenal Hyperplasia.

Individuals between the ages of 18-55 years of age with a diagnosis of classic CAH due to 21-hydroxylase deficiency who have been on a stable course of mineralcorticoid replacement for three months or more are eligible to participate in this study. Participation in the study will last between 38-72 weeks. Tildacerfont is a medication that is being studied as a treatment specifically for CAH. The purpose of this study is to improve treatment options for individuals with CAH.

A Randomized, Double-blind, Placebo-controlled Study to Evaluate the Efficacy and Safety of SPR001 (Tildacerfont) in Reducing Supraphysiologic Glucocorticoid Use in Adult Subjects with Classic Congenital Adrenal Hyperplasia.

Adults between the ages of 18-55 with classic CAH due to 21-hydroxylase deficiency and a stable course of mineralcorticoid replacement for three or more months are eligible for this study. The purpose of this study is to evaluate whether Tildacerfont reduces glucocorticpoid steroid dose used by adult CAH participants.

Abstracts for Meeting Presentation

Bernabé, K. J., Nokoff, N. J., Felsen, D., Galan, D., Aston, C. E., Austin, P., Baskin, L., Chan, Y. -., Cheng, E. C., Diamond, D., Fried, A., Gonzalez, L., Greenfield, S., Kolon, T., Kropp, B. P., Lakshmanan, Y., Meyer, S., Meyer, T., Mullins, L. L., Mullins, A., Palmer, B., W., Paradis, A., Reddy, P., Scott-Reyes, K. J., Schulte, M., Swartz, J. M., Yerkes, E., Wisniewski, A.,Wolfe-Christensen, C.& Poppas, D. (2017). 12 month surgical outcomes following genitoplasty in children with moderate-to-severe genital atypia. Hormone Research in Paediatrics, 88, 13-14.

Perez, M. N., Bakula, D. M., Sharkey, C. M., Austin, P., Baskin, L., Bernabé, K. J., Cheng, E., Diamond, D., Ellens, R., Fried, A., Galan, D., Gonzalez, L., Greenfield, S., Kolon, T., Kropp, B. P., Lakshmanan, Y., Meyer, S., Meyer, T., Mullins, A. J., Nokoff, N. J., Palmer, B., W., Poppas, D., Paradis, A., Reddy, P., Scott-Reyes, K. J., Wisniewski, A.,Wolfe-Christensen, C., Yerkes, E., & Mullins, L. L. (2017). Social support and financial changes for parents of children born with ambiguous genitalia. Hormone Research in Paediatrics, 88, 559-560.

Sharkey, C. M., Bakula, D. M., Austin, P., Baskin, L., Bernabé, K., Cheng, E., Ellens, R., Fried, A., Frimberger, D., Galan, D., Gonzalez, L., Greenfield, S., Kolon, T., Kropp, B. P., Lakshmanan, Y., Meyer, S., Meyer, T., Mullins, A., Nokoff, N. J., Palmer, B., W., Poppas, D., Paradis, A., Reyes, K., Wisniewski, A.,Wolfe-Christensen, C., Yerkes, E., & Mullins, L. L. (2017). The influence of parent-rated severity of illness on parent anxiety in families with children born with ambiguous genitalia. Hormone Research in Paediatrics, 88, 365.

Paper References

Delozier, A. M., Gamwell, K. L., Sharkey, C., Bakula, D. M., Perez, M. N., Wolfe-Christensen, C., Austin, P., Baskin, L., Bernabe, K. J., Chan, Y., Cheng, E. Y., Diamond, D. A., Ellens, R. E. H., Fried, A., Galan, D., Greenfield, S., Kolon, T., Kropp, B., Lakshmanan, Y., Meyer, S., Meyer, T., Nokoff, N. J., Reyes, K. J., Palmer, B., Poppas, D. P., Paradis, A., Tishelman, A. C., Yerkes, E. B., Chaney, J. M., Wisniewski, A. B., & Mullins, L. L. (2019). Uncertainty and posttraumatic stress: Differences between mothers and fathers of infants with disorders of sex development. Archives of Sexual Behavior, 48(5), 1617-1624.

Finlayson, C., Rosoklija, I., Aston, C. E., Austin, P., Bakula, D., Baskin, L., Chan, Y., Delozier, A. M., Diamond, D. A., Fried, A., Greenfield, S., Kolon, T., Kropp, B., Lakshmanan, Y., Meyer, S., Meyer, T., Nokoff, N., Mullins, L. L., Palmer, B., Perez, M. N., Poppas, D. P., Reddy, P., Reyes, K. J. S., Schulte, M., Sharkey, C. M., Yerkes, E., Wolfe-Christensen, C., Wisniewski, A. B., & Cheng, E. Y. (2019). Baseline characteristics of infants with atypical genital development: Phenotypes, diagnoses, and sex of rearing. Journal of the Endocrine Society, 3(1), 264-272.

Perez, M. N., Delozier, A. M., Aston, C. E., Austin, P., Baskin, L., Chan, Y., Cheng, E. Y., Diamond, D. A., Fried, A., Greenfield, S., Kolon, T., Kropp, B., Lakshmanan, Y., Meyer, S., Meyer, T., Nokoff, N., Palmer, B., Paradis, A., Poppas, D., Scott Reyes, K. J., Swartz, J. M., Tishelman, A., Wisniewski, A. B., Wolfe-Christensen, C., Yerkes, E., & Mullins, L. L. (2019). Predictors of psychosocial distress in parents of young children with disorders of sex development. Journal of Urology, 202(5), 1046-1051.

Bernabe, K. J., Nokoff, N. J., Galan, D., Felsen, D., Aston, C. E., Austin, P., Baskin, L., Chan, Y., Cheng, E. Y., Diamond, D. A., Ellens, R., Fried, A., Greenfield, S., Kolon, T., Kropp, B., Lakshmanan, Y., Meyer, S., Meyer, T., Delozier, A. M., Mullins, L. L., Palmer, B., Paradis, A., Reddy, P., Reyes, K. J. S., Schulte, M., Swartz, J. M., Yerkes, E., Wolfe-Christensen, C., Wisniewski, A. B., & Poppas, D. P. (2018). Preliminary report: Surgical outcomes following genitoplasty in children with moderate to severe genital atypia. Journal of Pediatric Urology, 14(2), 157.e1-157.e8.

Sharkey, C. M., Bakula, D. M., Wolfe-Christensen, C., Austin, P., Baskin, L., Bernabe, K. J., Chan, Y., Cheng, E. Y., Delozier, A. M., Diamond, D. A., Ellens, R. E. H., Fried, A., Galan, D., Greenfield, S., Kolon, T., Kropp, B., Lakshmanan, Y., Meyer, S., Meyer, T., Nokoff, N. J., Scott Reyes, K. J., Palmer, B., Poppas, D. P., Paradis, A., Tishelman, A., Yerkes, E. B., Chaney, J. M., Wisniewski, A. B., & Mullins, L. L. (2018). Parent-rated severity of illness and anxiety among caregivers of children born with a disorder of sex development including ambiguous genitalia. Hormone Research in Paediatrics, 90(5), 308-313.

Suson, K. D., Wolfe-Christensen, C., Elder, J. S., & Lakshmanan, Y. (2018). Differences in early career operative experiences among pediatric urologists. Journal of Pediatric Urology, 14(4), 333.e1-333.e7.

Bakula, D. M., Mullins, A. J., Sharkey, C. M., Wolfe-Christensen, C., Mullins, L. L., & Wisniewski, A. B. (2017). Gender identity outcomes in children with disorders/differences of sex development: Predictive factors. Seminars in Perinatology, 41(4), 214-217.

Bakula, D. M., Sharkey, C. M., Wolfe-Christensen, C., Mullins, A. J., Meyer, J., Mullins, L. L., & Wisniewski, A. B. (2017). Recommendations for the establishment of disorders/differences of sex development interdisciplinary care clinics for youth. Journal of Pediatric Nursing, 37, 79-85.

Ellens, R. E. H., Bakula, D. M., Mullins, A. J., Scott Reyes, K. J., Austin, P., Baskin, L., Bernabe, K., Cheng, E. Y., Fried, A., Frimberger, D., Galan, D., Gonzalez, L., Greenfield, S., Kolon, T., Kropp, B., Lakshmanan, Y., Meyer, S., Meyer, T., Mullins, L. L., Nokoff, N. J., Palmer, B., Poppas, D., Paradis, A., Yerkes, E., Wisniewski, A. B., & Wolfe-Christensen, C. (2017). Psychological adjustment of parents of children born with atypical genitalia 1 year after genitoplasty. Journal of Urology, 198(4), 914-920.

Nokoff, N. J., Palmer, B., Mullins, A. J., Aston, C. E., Austin, P., Baskin, L., Bernabe, K., Chan, Y., Cheng, E. Y., Diamond, D. A., Fried, A., Frimberger, D., Galan, D., Gonzalez, L., Greenfield, S., Kolon, T., Kropp, B., Lakshmanan, Y., Meyer, S., Meyer, T., Mullins, L. L., Paradis, A., Poppas, D., Reddy, P., Schulte, M., Reyes, K. J. S., Swartz, J. M., Wolfe-Christensen, C., Yerkes, E., & Wisniewski, A. B. (2017). Prospective assessment of cosmesis before and after genital surgery. Journal of Pediatric Urology, 13(1), 28.e1-28.e6.

Wolfe-Christensen, C., Wisniewski, A. B., Mullins, A. J., Reyes, K. J., Austin, P., Baskin, L., Bernabe, K., Cheng, E., Fried, A., Frimberger, D., Galan, D., Gonzalez, L., Greenfield, S., Kolon, T., Kropp, B., Lakshmanan, Y., Meyer, S., Meyer, T., Nokoff, N. J., Palmer, B., Poppas, D., Paradis, A., Yerkes, E., & Mullins, L. L. (2017). Changes in levels of parental distress after their child with atypical genitalia undergoes genitoplasty. Journal of Pediatric Urology, 13(1), 32.e1-32.e6.

Suorsa, K. I., Mullins, A. J., Tackett, A. P., Reyes, K. J. S., Austin, P., Baskin, L., Bernabe, K., Cheng, E., Fried, A., Frimberger, D., Galan, D., Gonzalez, L., Greenfield, S., Kropp, B., Meyer, S., Meyer, T., Nokoff, N., Palmer, B., Poppas, D., Paradis, A., Yerkes, E., Wisniewski, A. B., & Mullins, L. L. (2015). Characterizing early psychosocial functioning of parents of children with moderate to severe genital ambiguity due to disorders of sex development. Journal of Urology, 194(6), 1737-1742.

Wolfe-Christensen, C., Fedele, DA, Mullins LL, Lakshmanan Y, & Wisniewski, AB. Differences in anxiety and depression between male and female caregivers of children with a disorder of sex development. J Pediatr Endocrinol Metab. 2014;27:617-621.

Wolfe-Christensen, C., Fedele, D.A., Kirk, K. Mullins, L.L., Lakshmanan, Y., & Wisniewski, A.B. Stress is differentially associated with parenting style and mental health of caregivers of children with a disorder of sex development. J Pediatr Urol. 10:538-543.

Wolfe-Christensen, C., Fedele, D.A., Kirk, K., Mullins, L.L., Lakshmanan, Y. & Wisniewski, A.B. Caregivers of children with a disorder of sex development: Associations between parenting capacities and psychological distress. J Pediatr Urol. 2014;10:538-43. doi: 10.1016/j.jpurol.2013.11.016

Wolfe-Christensen, C., Fedele, D.A., Kirk, K., Phillips, T.M., Mazur, T., Mullins, L.L., Chernausek, SD., Lakshmanan, Y., & Wisniewski, A.B. (2012). Degree of external genital malformation at birth in children with a disorder of sex development and subsequent caregiver distress. J Urol. 2012; 88:1596-1600. doi: 10.1016/j.juro.2012.02.040.

Kirk, K.D., Fedele, D.A., Wolfe-Christensen, C., Phillips, T.M., Mazur, T., Mullins, S.D. et al. (2011). Parenting characteristics of female caregivers of children affected by chronic endocrine conditions: Comparisons between disorders of sex development and type 1 diabetes mellitus. J Pediatr Nurs. 2011;26:29-36. doi: 10.1016/j.pedn.2010.10.005.

Hullmann, S.E., Fedele, D.A., Wolfe-Christensen, C., Mullins, L.L., & Wisniewski, A.B. Differences in adjustment by developmental stage among caregivers of children with disorders of sex development. Int J Pediatr Endocrinol, 2011;16.
doi: 10.1186/1687-9856-2011-16.

Fedele, D.A., Kirk, K., Wolfe-Christensen, C., Phillips, T., Mazur, T., Mullins, L.L. et al., Primary caregivers of children affected by disorders of sex development (DSD): Mental health and caregiver characteristics in the context of genital ambiguity and genitoplasty. International J Pediatri Endocrinol. 2010; Epub June 13. doi: 10.1155/2010/690674.

Meet our CAH team

Paul Thornton, MBBS

Endocrinology

4.8 out of 5

57 Ratings

Accepting new patients

682-885-7960

Jonathan Kaye, MD

Urology

4.8 out of 5

118 Ratings

Accepting new patients

682-303-4426

Kirk Pinto, MD

Urology

4.8 out of 5

82 Ratings

Accepting new patients

682-303-0376

Jeff Pugach, MD

Urology

4.8 out of 5

75 Ratings

Accepting new patients

682-303-0376

Mary Beth Cox, MD

Endocrinology

682-885-6299

Complete care for parents and patients

One of the most important things we can do is to work with parents of newborns to discuss options for their child and how those options may impact their child over the course of their lifetime. Our goal here, is to help parents make informed decisions on a rarely talked about condition. We counsel each family and thoroughly talk through all aspects of treatment options prior to decision making. We also create a plan for full disclosure to their child about their condition and treatment at age-appropriate stages of their life and supporting them through the ongoing care that our CAH program can provide.

Our approach takes into consideration the psycho-social needs of the family and the patient. Studies and experience show that having a child with a chronic condition can place addtional stress and financial strain on the family, so it's important to address these issues. In addition to counseling with the families, we introduce them to a variety of resoures and support groups. The more knowledgeable and supported the family is, the more successfully they can build a strong and healthy emotional, mental and physical foundation.

Caring for patients with CAH truly requires a multidisciplinary program. Our comprehensive team includes pediatric specialists from:

Genetics
Neonatology
Reproductive specialists
Social workers
Radiology
Nurtrition
Dermatology

Working together is in our DNA

It takes more than medicine and research to ensure that patients reach their goals, it takes compassionate collaboration. That's why our team of renowned physicians, researchers and specialists work with you, your patient and the family to ensure that infants, children and teens with this rare disease receive the most advanced treatments available today, with an eye on their future as well.

Designations and recognition

When you refer a patient to Cook Children's Congenital Adrenal Hyperplasia program, you can trust that you're choosing a team with extensive expertise, resources and commitment to providing the best available care possible.

Ranked among the best children’s hospitals list for Diabetes and Endocrinology by U.S. News and World Report
Recognized as a Level 2 Center of Excellence by the CARES Foundation, 1 of only 8 in the U.S.
Level IV Neonatal Intensive Care Unit.
Cook Children's is recognized as a Top Children’s Hospital nationally by The Leapfrog Group. This Leapfrog Top Hospital award highlights our widely recognized achievements in patient safety and quality.
Cook Children's Medical Center nurses have received Magnet^® recognition four times. Cook Children's Medical Center is honored to be the first freestanding, pediatric hospital in North Texas, and the 10th in the world, to receive this prestigious designation four consecutive times. With less than 1% of hospitals receiving such recognition, Cook Children's Medical Center has joined an elite group of health care organizations that are committed to nursing excellence and high quality outcomes.

Connect with us

Referring physicians find our rapid response time expedient and refreshing.

We understand the critical need of your CAH patients, which is why a care coordinator will work with the family throughout each step of their journey.

Whether it’s for a consultation, or to refer a patient, all you have to do is call us – and from there, we’ll handle the rest.

Contact our CAH clinic care coordinator, Kaitlyn (Katie) Miller, RN

682-885-7960

Coming from outside of Texas?

We offer many services to families who are traveling from out-of-state. We can help with appointment scheduling, insurance approvals, and making your experience with Cook Children's as easy as possible.

Please contact our Global Health Services care coordinator if you need help with out-of-state or international referrals at:

682-303-1378 GlobalHealthServices@cookchildrens.org 682-885-2557 fax

Exceptional CAH care starts here

Among the best in pediatric Endocrinology

Cook Children's Congenital Adrenal Hyperplasia Program

Choose Cook Children's Congenital Adrenal Hyperplasia Program

Partnering with you

Multiple locations

Our innovative approach