Endocrinology – Inside Pediatrics

PCOS Clinic Provides Holistic Care with a Multidisciplinary Approach

Excessive weight gain, acne, hirsutism, thinning hair, irregular menstrual cycles and insulin insensitivity – these are some of the symptoms of polycystic ovary sydrome (PCOS), the most common reproductive condition in women and a risk factor for a plethora of metabolic diseases, including diabetes and cardiovascular disease, as well as infertility. It affects between 3% and 15% of women, who often wait years for a diagnosis, visiting numerous clinicians in the process.^[i]

That’s changed for the young women of Alabama since pediatric endocrinologist Christy A. Foster, MD, started a multidisciplinary clinic in 2020 for adolescents with PCOS.

“Our goal is to try to improve the care patients receive in a more holistic manner,” she said. The clinic’s foundation is a multidisciplinary team that includes Foster, a pediatric gynecologist, a dermatologist, a social worker and family counselor, and a nutritionist.

Many of these young women have been seen multiple times by their primary care doctor before they’re referred. “Coming to the clinic enables them to put a voice to what’s wrong—a feeling that they’re understood—which can be helpful,” Foster said. The multidisciplinary approach also provides expertise from several different providers. “That certainly helps with their care because otherwise they might have to make several different appointments and take more time to travel.” And most are just glad to have a home with providers who have expertise with PCOS.

The physical manifestations of PCOS create a challenge at a particularly difficult time for young women, Foster said. “Their peers notice they ‘look different,’” she said. “That’s certainly a challenge for them from a mental health perspective.” That’s why it’s so important that the team includes counseling and mental health.

The Children’s clinic is one of only a limited number in the country, which is one reason Foster felt strongly about starting it. “I wanted to improve access to care in our region and address the patient as a whole person,” she said.

The team tailors treatment to address the patient’s greatest concerns, be it pre-diabetes, facial hair, severe acne or other repercussions of PCOS. “My hope is that when we start them on treatment, they feel their concerns are being addressed and heard and understood,” Foster said. Treatment options include birth control pills to regulate their menstrual cycles, an insulin sensitizer such as metformin, laser hair treatment and androgen receptor blockers.

Another advantage of the clinic is that the team can follow the women longitudinally and, hopefully, prevent some of the metabolic conditions they’re at risk for.

After clinic, the team holds a debrief to discuss the patient as a whole, “There is a benefit to having everyone in the same place,” Foster said. “It improves communication.”

The clinic is held once a quarter, although patients may see individual providers at other times. Since it began, about 50 young women have been seen, with about six to eight seen during each half-day clinic. “But certainly we’re looking to grow,” Foster said.

^[i] Gibson-Helm M, Teede H, Dunaif A, Dokras A. Delayed Diagnosis and a Lack of Information Associated With Dissatisfaction in Women With Polycystic Ovary Syndrome. J Clin Endocrinol Metab. 2017;102(2):604-612. doi:10.1210/jc.2016-2963

September 5, 2022 by childrensal

Endocrinology, Inside Pediatrics

Managing Congenital Adrenal Hyperplasia With Precision

_{^{Nurse practitioner Leslie Pitts (left) and Dr. Gail Mick, director of the Children’s of Alabama endocrine newborn screening program.}}

Congenital Adrenal Hyperplasia (CAH)—a group of rare genetic disorders affecting the adrenal gland—occurs in approximately 1 in 16,000 children each year, and these rare cases present significant challenges for patients, parents and doctors. Without proper treatment, it can be a life-threatening condition, but treating it can be difficult for doctors. That’s why the endocrine team at Children’s of Alabama is participating in an international pediatric, phase 2 trial called CAHtalyst to investigate a new nonsteroidal treatment.

The treatment, Crinecerfont, may improve adrenal hormone balance by tamping down excess androgen production. The drug has already shown efficacy and safety in adult CAH trials, and Gail J. Mick, MD, director of the Children’s endocrine newborn screening program, says she’s delighted that Children’s can participate in the study. “The families are excited about new CAH research because they want new therapeutic options,” she said.

CAH, which can occur in multiple forms, affects the adrenal gland’s ability to produce cortisol, a hormone critical for life; and aldosterone, a hormone that regulates salt and water balance. The most common form of CAH occurs due to a deficiency of the adrenal enzyme 21-hydroxylase. Without this enzyme, affected individuals are at risk of a life-threatening adrenal crisis as well as adrenal androgen overproduction.

Doctors in the Children’s of Alabama’s endocrine newborn screening program specialize in helping newborns with CAH, which is one of more than 30 disorders screened for at birth by Alabama’s newborn screening program. At Children’s, newborns who screen positive for CAH are immediately evaluated for emergency care and management. To help parents and children with CAH, the Children’s Division of Endocrinology and Diabetes provides comprehensive care to nearly 100 CAH patients per year.

Treatment involves infusions of steroids and fluids, followed by carefully titrated doses of cortisol and mineralocorticoids. It’s not always easy. “It’s a very delicate balance to mimic normal adrenal function with oral medications,” Mick said. Give too much glucocorticoid, and you can suppress growth and expose patients to adverse steroid side effects. Give too little, and the adrenal gland overproduces androgens, which can spur early puberty and excess growth as well as other complications.

The adrenal imbalance is even more complex when children are sick and can’t take their medications. In those cases, parents must administer injectable glucocorticoids and seek emergency medical care. For this reason, routine childhood illnesses put a tremendous strain on parents.

Extra support is essential, Mick says. CAH is challenging to manage, given individual nuances in adrenal insufficiency and the impact of growth and puberty on medical management. “We offer special teaching and support for the parents in those early years as far as understanding how and when to give steroids and hormones to prevent adrenal crisis,” said nurse practitioner Leslie Pitts MSN, AC-PNP, CDE.

The CAH and endocrine newborn screening clinic also serves as an important resource for pediatric providers throughout the region. “Providers consult with us when they have abnormal newborn screens on their patients,” Pitts said. “They know we’re available to answer questions and concerns regarding CAH diagnosis and management.”

Pitts and Mick stress the key role that parents play in managing their child’s CAH. “Hats off to the families of children with CAH,” Mick said. “They are a motivated community who support one another, advocate for CAH research and treatment, and have even put together a highly popular ‘Camp Cortisol’ at Children’s Harbor at Lake Martin.”

“These are really quite extraordinary families,” Pitts said. And they may have a brighter future thanks to clinical trials like CAHtalyst. Mick predicts that in the next couple of years, they’ll have access to many more treatment options that will make the condition easier to live with.

August 18, 2022 by childrensal