Congenital Adrenal Hyperplasia (CAH) Clinic

The Division of Endocrinology at Children's Hospital Los Angeles is committed to improving the quality of care and services for individuals with Congenital Adrenal Hyperplasia (CAH).

We are a unique team of specialized doctors, nurses and other allied health professionals dedicated to providing care, treatment and support to patients who have been diagnosed with CAH. At our CAH program, we partner with other centers and multidisciplinary specialists to provide your family with:

  • Comprehensive care and education.
  • Training for families and medical professionals.
  • Perinatology consultation.
  • Genetic consultation and counseling.
  • Pediatric urology consultation (if state-of-the-art surgical repair is warranted).
  • Behavioral health and nutritional consultation.
  • State-of-the-art imaging.

Our multidisciplinary team also provides resources and opportunities for patients of all ages and their families to meet, exchange ideas and share experiences. We partner with the following areas:

CAH Center of Excellence

The CHLA Congenital Adrenal Hyperplasia Comprehensive Care Clinic is recognized as the first CAH Center of Excellence by CARES Foundation (Congenital Adrenal Hyperplasia Research, Education and Support) in the Western United States. The CAH Center of Excellence at CHLA is dedicated to advancing the care of individuals and families with CAH through its multidisciplinary clinical care, support and education, advocacy efforts, and cutting-edge research. To find out more information or get involved in our ongoing research studies please email us at CAH@chla.usc.edu.

The Androgen Excess Disorders Clinic runs in conjunction with the CAH clinic. Dr. David Geller leads this clinic, seeing patients with polycystic ovary syndrome (PCOS).

Give Today

Click here to make an online tax-deductible contribution to directly support our Center's goal to provide the best care, support, education, advocacy and research for children with CAH.

Finding Inspiration from CHLA's First Congenital Adrenal Hyperplasia Patient

 

  • What Is Congenital Adrenal Hyperplasia (CAH)?
  • General Approaches to Diagnosis
  • Basic Treatment
  • Our Services
  • Interest and Support Groups
  • Upcoming Events
  • Resources

Congenital Adrenal Hyperplasia (CAH) is a defect in the adrenal gland and caused by a deficiency in 21 hydroxylase enzyme.

There are two forms of Congenital Adrenal Hyperplasia (CAH) :

Both forms of CAH are passed down in a family from the parents to the child. Parents carry the trait and have no symptoms of their own, but will have a 25 percent chance of having an affected child.

Classical CAH

Classical CAH occurs in about one in 15,000 births and can present in two forms: Salt-Wasting and Simple-Virilizing . More patients have salt-wasting CAH (67 percent of cases) and it is the more severe form.

Children diagnosed with Classical CAH lack the adrenal gland hormone, cortisol, resulting in patients producing too much of the male hormone, testosterone. The salt-wasting form of CAH additionally lack the hormone, aldosterone, which allows the kidney to maintain proper levels of salt in the body.

Symptoms of Classical CAH may include:

  • Male-looking external genitalia in females.
  • Abnormal electrolytes in patients (which can lead to major clinical symptoms in both genders).

Children with Classical CAH can present signs of:

  • Low blood sugar.
  • Low sodium.
  • Vascular collapse.
  • High potassium.
  • Dehydration.

Non-classical CAH

Non-classical CAH (NCAH) occurs in one in 1,000 births overall. Affected children do not show symptoms of any form at birth but may show symptoms any time later in life. NCAH is not life-threatening.

  • Abnormalities in puberty (early onset in both boys and girls, irregular or absent menstrual periods in girls and moderate to severe acne in both genders).
  • Unusually fast height growth in both genders.
  • An enlarged clitoris in girls.

Symptoms of NCAH may include: 

  • Excess pubic hair.
  • Excess facial hair.
  • Rapid height growth.
  • Enlarged penis in boys.
  • Enlarged clitoris in girls.
  • Moderate to severe acne.
  • Absence or loss of menstrual periods in young women.

 

Delays in diagnosis can have a critical effect on the health of your child. To avoid any delay in diagnosis, all 50 states now have implemented a government-mandated newborn screening program for CAH. Children of approximately two days old should have a blood test. The screening is designed to detect high levels of 17-hydroxyprogesterone.

In our multidisciplinary center, we provide access to the following state-of-the-art services to diagnose CAH in children.

  • Hormonal testing
  • Molecular genetics
  • Radiological imaging 

 

Depending on the severity of the condition, treatment will vary in medications and dosage. Some treatment options are:

  • Oral glucocorticoid, usually hydrocortisone
  • Injectable hydrocortisone for emergencies
  • Oral mineralocorticoid
  • Sodium chloride

If a child with CAH shows signs of an "adrenal crisis," the following additional measures are advised:

  • Intravenous sodium chloride (saline or salt)
  • Intravenous glucose (low blood sugar)
  • High-dose of intravenous hydrocortisone

If female children have abnormalities of the genitals, then reconstructive surgery can be performed. Typical issues may include:

  • clitoral enlargement
  • vaginal abnormalities
  • labial fusion
  • urogenital sinus

 

Our Services

  • Clinical exams
  • Fetal and Neonatal Medicine
  • Genetic testing
  • Hormone treatment
  • Stress-dosing
  • Surgical repair
  • Training for families and medical professionals
  • Transition Clinic at LAC-USC Medical Center (in progress)
  • Gynecology
  • Dermatology
  • Reproductive Endocrinology and Adult Urology (USC Keck School of Medicine)
  • Annual Adrenal Camp at The Painted Turtle

Disorders Treated

Southern California CAH Support Group

Children's Hospital Los Angeles has partnered with CARES Foundation since 2011 to run the Southern California CAH Support Group. The group is geared towards the education and support of patients and their families with CAH through several "Interest/Support Groups". We co-host events including: speaker-oriented meetings, regional conferences, and special events geared towards family fun, education and support. Please check out the Upcoming Events section. We have been working to join together several Southern California children's hospitals in the common goal of improving the lives of patients with CAH.

Give Today

Click here to make an online tax-deductible contribution to directly support our Center's goal to provide the best care, support and education for children and their families living with CAH.

Non-Classical CAH Interest Group

Thanks to the help of Ms. Maureen Regan, Children's Hospital Los Angeles started an interest group for those diagnosed or affected with Non-Classical CAH (NCAH). As part of the Southern California CAH Support Group, this interest group at Children’s Hospital is an effort to reach out to those diagnosed with NCAH, as well as their families, in the Greater Los Angeles area. It will provide an environment for patients and families to easily meet others in the same situation and develop supportive relationships.To find out more information or to join the NCAH Interest Group, please contact Parent Leader, Ms. Pam Bilgore or CAH@chla.usc.edu.

Infant-Toddler CAH Support Group

This year we started the much-needed Infant-Toddler CAH Support Group for families with very young CAH children - during their infancy and preschool years. We know that this is a unique time for families learning about CAH, struggling to cope with various challenges, and we would like to provide support, mentoring, and a chance for families to meet each other. We had a fantastic inaugural Support Group Event on January 28, 2017, with families and CAH staff gathering for a breakfast and education/support morning for infants and toddlers with CAH at CHLA. For more information or to join, please contact Parent Leaders, Ms. Carrie Wright, Ms. Caitlin Acker or Mr. Jonny Acker, or CAH@chla.usc.edu.

June 3, 2017

3rd Annual Adrenal Insufficiency Camp at The Painted Turtle

We want to send 60 families for a very special camp weekend day at The Painted Turtle in Lake Hughes, CA, for free on June 3, 2017, and we need your help!

Help support fundraising efforts to make this weekend event a reality each year. The day provides an innovative, camp-based program to children and their families living with CAH, staffed by the CHLA CAH Comprehensive Care Clinic team! It offers a great big dose of fun and support, and allows children with adrenal insufficiency to reclaim the joys of childhood at an amazing camp. Families and youth have the chance to meet each other, share experiences, and interact with the CAH staff who attend! 

Please contact our team for more details on how to join camp weekend, or to help fund raise, at CAH@chla.usc.edu or 323-361-5627.

Give Today

To make an online tax-deductible contribution to directly support our Center's goal to send 30 families to the Annual Adrenal Insufficiency Camp Family Weekend, please click here.

 

Previous Events

 

November 4-6, 2016

2nd Annual Adrenal Insufficiency Camp at The Painted Turtle

We want to send 30 families for a very special camp weekend at The Painted Turtle in Lake Hughes, CA, for free on November 4-6, 2016, and we need your help!

Help support fundraising efforts to make this weekend a reality each year. The weekend provides an innovative, campbased program to children and their families living with CAH, staffed by the CHLA CAH Comprehensive Care Clinic team! It offers a great big dose of fun and support, and allows children with adrenal insufficiency to reclaim the joys of childhood at an amazing camp.

Please contact our team for more details on how to join camp weekend, or to help fund raise, at CAH@chla.usc.edu or 323-361-5627.

Give Today

To make an online tax-deductible contribution to directly support our Center's goal to send 30 families to the Annual Adrenal Insufficiency Camp Family Weekend, please click here.

January 28, 2017

Infant-Toddler Support Group Breakfast Event

We will be hosting a breakfast and education/support morning for families of infants and toddlers with CAH, at CHLA on January 28, 2017.

Featured CAH staff will include: Dr. Mimi Kim, Dr. Mitchell Geffner, Dr. Paul Kokorowski, Maria Velasquez (Social Worker), Gail Hubbard (Genetic Counselor), and Act-O-Vial Teaching by Vivian Medrano and Maria Padua (CAH Nurse Educators).