Background Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder that leads to the disruption of adrenal steroidogenesis. 21-hydroxylase deficiency is the most common form and is caused by the mutations in the 21-hydroxylase (CYP21A2) gene. Deficiency in the 21-hydroxylase enzyme can affect aldosterone and cortisol production and shift the pathway to increased androgen production. It is classified as classical and nonclassical depending on the severity of enzyme deficiency. The classical form can present as a life-threatening salt-wasting or a milder form of simple virilizing CAH. Female patients with classical 21-hydroxylase deficiency present with ambiguous genitalia secondary to increased androgen production. We present a case of salt-wasting classical CAH in a female patient with no signs of virilization that was diagnosed based on newborn screening. Case presentation A four-day-old full-term female was referred to our hospital for elevated 17 hydroxyprogesterone (17-OHP) on a newborn screen. She was born via normal vaginal delivery with an uncomplicated prenatal and postnatal course. Her newborn screen was drawn at day 1 of life resulted in 17-OHP of 128.20 nmol/L (normal cutoff of 85 nmol/L). Otherwise, she was active, feeding well with no other concerns. On admission, her vital signs were within normal, with an unremarkable physical examination. Specifically, the genitourinary exam demonstrated normal female external genitalia with no evidence of virilization, no clitoromegaly with a clitoris length of 12 mm and width 1-2 mm, no hyperpigmentation, and with normal-appearing vaginal orifice and urethral meatus. Confirmatory 17-OHP by mass spectrometry was sent along with the metabolic panel, and her initial electrolytes were within normal. Since there was a low suspicion for salt-wasting CAH given her normal labs and unremarkable physical exam, medication was not started, and the patient was admitted for monitoring. The potassium level trended up abnormally to 6.3 mmol/L, which prompted the initiation of empiric treatment with a physiologic dose of Hydrocortisone and Florinef on day of life 7, pending confirmatory 17-OHP level. Confirmatory17-OHP was 1242 ng/dL (normal <78) and following stimulation with Cosyntropin a markedly elevated 17-OHP 27,929.31 ng/dL (normal expected 7-106) and low cortisol level 2 mcg/dL, for which definitive treatment with hydrocortisone and Florinef were initiated. Subsequent genetic testing confirmed the diagnosis of 21-hydroxylase deficiency with mutations in the CYP21A2 gene for I172N, R356W, and c. *13G>A. Further genetic workup to explain the complete lack of virilization, including assessment of an androgen insensitivity panel and whole-exome sequencing, was unremarkable. Conclusion This case illustrates the critical importance of heel-stick newborn screening for CAH to prevent a life-threatening salt-wasting crisis as female patients with classical CAH can present with a phenotypic complete lack of virilization that could be misleading and fatal if not recognized. Presentation: No date and time listed

Introduction Caring for chronic pediatric endocrine disorders commonly require long-term use of pharmacotherapy. Although these medications are effective in combating disease, their real benefits are often not achieved because of non-adherence. Health care professionals must be aware to the high prevalence of noncompliance which contributes to increased morbidity and medical complications, poorer quality of life and an overuse of the health care system and increase health care costs. Methods In order to better understand the factors contributing to noncompliance in our patient population, we performed a cross -sectional study along with medical chart review. We randomly selected 30 endocrine charts with chronic disorders and reviewed documentation of the need for medications, type of the visit, dose, duration, plan, patient compliance and refill follow up. Special attention was made if the physicians documented discussing the possible side-effects of the medication. An anonymous survey was handed to the parents at the end of visit and form was dropped in a locked box. No personal information or identification was collected. Parents were inquired about their understanding of the need for medication, side effects, compliance and the reason for poor compliance if they met the criteria. The chart reviewed showed that 47% of the patients reported poor compliance to physician during visit but when asked during the survey only 22 % reported poor compliance. 58% of the patients reported not knowing the possible side-effects of the medications. Reasons for non-compliance given by patients were 58% concerned about side effects of medication, refill not provided 4.8%, forgetting to take medication 2.4%, cost 2.4%, and language barrier 2.4%. Other 30% didn’t provide a specific reason for poor compliance. Conclusion Rates of medication adherence in pediatric patient with chronic medical illness range from 11% to 93%, with an estimated average of around 50%. Our population compliance correlates with the national average for pediatric population compliance. Our study also highlighted the importance of discussing possible side-effects with patients. Reviewing it periodically during clinic visits may decrease the risk of non-compliance. 58% of our patients reported lack of knowledge of proper side-effects of the treatment and impact of non -compliance to disease progression. Based on these results, we provided additional resources to physicians to better screen for factors that may affect compliance in each visit. Certain hard stops were added in medical documents and modifications were done in EMR. Information about common endocrine conditions and medication was added in EMR in English and Spanish. Physicians were encouraged to given written information about the proper use and side-effects. We are planning to do a follow up survey in 3–4 months to evaluate the improvement.