Congenital Adrenal Hyperplasia (CAH)

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doctor with baby

When your child is diagnosed with a rare condition, you want to find the pediatric team with the knowledge and experience necessary to provide your child with the best possible outcome. Cook Children's Congenital Adrenal Hyperplasia program is made up of specialists whose training and years of practice have made them recognized experts in the care of children from birth through adolescence with this condition.

Congenital Adrenal Hyperplasia (CAH) is a complicated genetic disorder that can have a lifelong impact on your child's growth and development.

More information on CAH

Center of Excellence

Cook Children's Congenital Adrenal Hyperplasia (CAH) clinic is proud to be one of eight Centers of Excellence in the nation designated by CARES Foundation. We are proud of this Level 2 designation. As a comprehensive care center, our multi-disciplinary team of health professionals provides endocrine, surgical, behavioral health, reproductive counselling, genetic counselling and nutrition services for our patients in addition to transition services to our adult partners for children with congenital adrenal hyperplasia from birth to adulthood. 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.

Accepting new patients

682-303-0376

Annie Stewart LCSW

Behavioral Health Specialist

Kaitlyn Miller RN

CAH Clinic Coordinator/Nurse Educator

Additional care provided by:

Adolescent Gynecologist: Shanna Combs MD
Geneticist: Alexandra Garza-Flores MD
Genetic Counselor: Alicia Hernandez PN
Dermatologists: Bryan Carroll MD; Heather Volkman MD

Care coordinator

To reach our pediatric CAH clinic coordinator, Kaitlyn Miller RN, call 682-885-5769.

Our team services 10 different satellite clinics, including Fort Worth, Abilene, Amarillo, Denton, Hurst, Lewisville, Midland, San Angelo, Tyler, Waco. For patients who attend the outlying clinics we have the availability of telemedicine and we offer our patients the opportunity to see their local Cook Children's endocrinologist in the satellite clinic. Once per year, patients come to the congenital adrenal hyperplasia clinic in Fort Worth for a fine tuning of the program and for education and meeting with other families.

Listen to our team discuss their approach

cah-podcast

Reaching clinical excellence and life-changing care for Congenital Adrenal Hyperplasia patients

Cook Children’s Congenital Adrenal Hyperplasia (CAH) Program is an exceptional collaboration between Endocrinology and Pediatric Urology. In a clinical roundtable discussion our experts discuss their important interdisciplinary approach to treating this inherited metabolic condition that impacts 1 in 15,000 babies born each year.

An Exceptional Approach to Congenital Adrenal Hyperplasia

We have ongoing studies that include families having a child with congenital adrenal hyperplasia.

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

The purpose of this study is to continue to gather much needed 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 (CCHCS).

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.

This study is not currently recruiting new patients.

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 has been on a stable course of mineralcorticoid replacement for 3 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 3 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.

Meeting presentations (not published papers)

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.

Patient and family resources

Adult endocrinology programs for CAH patients

UT Southwestern, Fort Worth
Dr. Anna Tumyan
600 South Main Street
Fort Worth, TX 76104
Phone: 817-882-2420
Website

UT Southwestern, Dallas
Dr. Sadia Ali, Dr. Jessica Abramowitz, Dr. Marconi Abreu, Dr. Sasan Mirfakhraee, Dr. Oksana Hamidi
2001 Inwood Road
Dallas, TX 75390
Phone: 214-645-8300
Website

We're here to help.

If your child has been diagnosed, you probably have lots of questions. We can help. If you would like to schedule an appointment, refer a patient or speak to our staff, please call our offices.

Call 682-885-7960

Congenital Adrenal Hyperplasia (CAH)

Center of Excellence

Your Congenital Adrenal Hyperplasia (CAH) team

Paul Thornton, MBBS

Kristin Favela, MD

Jonathan Kaye, MD

Kirk Pinto, MD

Jeff Pugach, MD

Annie Stewart LCSW

Kaitlyn Miller RN

Additional care provided by:

Care coordinator

Listen to our team discuss their approach

Reaching clinical excellence and life-changing care for Congenital Adrenal Hyperplasia patients

Research studies

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

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

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

Abstracts and papers

Meeting presentations (not published papers)

Paper References

Paper References

Patient and family resources

Adult endocrinology programs for CAH patients

We're here to help.