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Meet the Editors

 and joined the MJH Life Sciences team in December 2019. She graduated from Youngstown State University in 2019 with a bachelor's degree in journalism and a minor in political science. Prior to graduating, Morgan worked as the editor-in-chief of her college newspaper. She went on to work as an assignment editor at a broadcast news station in Youngstown, Ohio before joining 

 You can reach her at mpetronelli@mjhlifesciences.com.

Articles

A Rutgers-led study found genetics, personality traits, and environment uniquely shape early adolescent alcohol use, guiding prevention efforts.

Genetic and environmental influences predict early adolescent alcohol use

Less than half of US adolescents with major depressive episode received treatment in 2022, with disparities by race, gender, and geography.

Many adolescents with major depressive episode do not receive mental health care

Robert M. Cavanaugh, Jr, MD, is professor of Pediatrics and Director of Adolescent Medicine at SUNY Upstate Medical University in Syracuse, New York.

Discover effective strategies for conducting psychosocial screenings in adolescents using the HEADS FIRST Checklist to enhance health outcomes.

Psychosocial screening of adolescents: Using the HEADS FIRST Checklist, part 1

Large Korean study finds no link between prenatal or infant antibiotic exposure and autoimmune disease risk in children.

Early antibiotic exposure not linked to autoimmune disease in children

Contemporary Pediatrics connects pediatricians with peer-reviewed articles, guideline updates, and practice strategies for real-world clinical application.

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Authors

Karen L. Teelin, MD, is associate professor of Pediatrics and Director of Adolescent Medicine at SUNY Upstate Medical University in Syracuse, New York.

**Editor's Note** Please note that starting January 1, 2025, we will be switching to an online-exclusive publication process. This will allow us to publish case submissions quicker without having to deal with the variables that come along with print publication. All cases will still be eligible for print publication consideration, but publication in our print magazine is not guaranteed and will be up to the editor's discretion. 

Do you have a puzzling pediatric case that you’d like to share with the readers of 

We are looking for intriguing diagnoses that have stumped the experts—a diagnostic “Puzzler”—to help our physicians enhance their day-to-day practices. If you have such a story to tell, tell us.

Here’s what to do: Before you begin, we suggest that first you review the Puzzler 

https://www.contemporarypediatrics.com/case-studies

. Please note the specific style required for writing Puzzler manuscripts.

Next, prepare a draft of your case, including a summary of the presenting symptoms, a case overview, a 

table of the differential diagnosis (MANDATORY)

, and the special aspects of your case that qualify it as a Puzzler, and send it to us. Please note that the differential diagnosis table should also be discussed in the body text. We’ll review your draft and let you know what you need to add or revise before we send the manuscript to peer review for evaluation.

Puzzlers vary in length, and we suggest a minimum of 1,200 words up to a maximum of 2,000 words, but that is because of the complexity of some cases and whether some patients returned for many assessments before their diagnoses were determined. Also, some authors describe the pathophysiology of the differentials in great detail. Please also note no more than 3 authors are allowed per article.

What's most important is to show us the process that you used to analyze the case, including:

Why you decided to order certain tests and why you did not order others.

Peer consultations or why you elected to contact other specialists.

Lab values including vital signs or blood tests.

Labs and values if your patient was attended to in the emergency department or other hospital departments such as radiology or neurology.

Discussion related to the possible diagnoses.

Final diagnosis, treatment, prognosis, and follow-up.

Remember to indicate numbered citations within the body of the text and include a complete list of corresponding literature/references at the end of the manuscript. (Do not use any citation management programs or unlink them.) 

Limit references to 25. No references (unless it is a seminal study) can be older than 10 years.

We prefer primary research as references, but some cases are so obscure that authors will need to pull from a variety of sources. However, 

. Be advised that peer reviewers are adamant that the disease/disorder you describe was actually diagnosed and not determined by index of suspicion on the basis of ruling out various differentials. We use AMA11 as our publication style, which uses superscript citation numbers and a corresponding numbered reference list. Please create your citations and references in this style.  Check this recent article posted online at 

https://www.contemporarypediatrics.com/view/the-rx-of-adhd

 for examples of reference style. IMPORTANT NOTE WITH AMA 11TH EDITION: PLEASE PUT DOI OR WEBSITES/URLS AT THE END OF THE REFERENCE LINE.

When you send your draft manuscript, also 

. These image files must be high-resolution jpg or tiff files (minimum of 300 dpi) and as large in size as possible. We suggest a minimum of 7 horizontal inches. The images must be original photos with clear permissions to use, not images from copyrighted sources. Send as separate attachments with your e-mail submission; do not embed images into your manuscript document.

After we receive your manuscript, our editors and peer reviewers will review your draft and let you know if we accept your submission for publication. 

Puzzler is one of the departments for which we receive the most submissions, so it may be several months after submission before you receive feedback from us.

If we do accept your submission for publication, we will contact you with further instructions.

Send your submissions in Microsoft Word format to 

, via e-mail to mpetronelli@mjhlifesciences.com

Guidelines for PUZZLER, Contemporary Pediatrics

 poll. Take a look at the following case below. After reading through the description, choose a multiple-choice answer and try to guess the correct patient diagnosis.

Then visit our website on August 20 at 12:00 PM EST or later for the full case presentation, differential diagnosis, and correct patient diagnosis.

This case was provided by Andrew Faniku, MD, pediatric hospitalist at Scott & White Healthcare.

A 21-year-old primigravida female presented to the hospital in preterm labor, with an otherwise uneventful pregnancy except for a febrile illness after exposure to family members with measles a week prior.

She reported having fever, cough, conjunctivitis, and a rash that started on her face and spread to her trunk, consistent with measles. Her fever and symptoms had mostly resolved, except for her lingering rash that began six days earlier. In the delivery room, she still had fresh excoriation marks on her arms. She had not received any MMR vaccines.

Six hours after admission, the patient delivered a female infant via spontaneous vaginal delivery at 35 weeks’ gestation. The baby weighed 2410 grams, which was approximately the 50

 percentile for her gestational age. The baby had mild respiratory distress after delivery and briefly required supplemental oxygen via blow by during transitioning. Apgar’s of 8 at 1 minute and 9 at 5 minutes was given at delivery. The baby subsequently improved and was allowed to room in with mother without the need for NICU admission. Nursing staff noticed a rash on the baby’s back. 

Below, take your best guess at diagnosing this patient

 website on Wednesday, August 20 at 12:00 PM EST or later for the full case presentation, differential diagnosis, and correct patient diagnosis.

News

Case Studies

Can you diagnose this rash in a newborn?

Suzanne Hollander, MS, RD, LDN and Timothy Tramontana, MD offer thoughts on the newly FDA-approved sepiapterin for PKU.

WATCH: Experts react to the FDA approval of sepiapterin to treat PKU

FDA approved PTC Therapeutics' sepiapterin (Sephience) 

to treat adult and pediatric patients with phenylketonuria (PKU). Sepiapterin is now the third FDA-approved medication for lowering blood phenylalanine (Phe) levels and can be used alongside a Phe-restricted diet to expand protein tolerance in individuals with sepiapterin-responsive PKU. 

"This is a really exciting time in PKU, with a new treatment coming out," said Suzanne Hollander, MS, RD, LDN, metabolic dietitian at Boston Children’s Hospital. "Sepiapterin is an oral Phe-lowering medication just recently approved for PKU in individuals of all ages. For individuals with PKU, historically, standard-of-care treatment has included a protein-restricted diet with low phenylalanine formula. More recently, there have been 2 Phe-lowering medications available on the market. These previous 2 medications and the diet do not always sustainably work for everyone to keep their Phe level within the target treatment range. That target treatment range is less than 360 µmol/L."

FDA approval follows the phase 3 APHENITY trial, in which sepiapterin demonstrated potential benefits such as increased dietary protein intake and reduced reliance on PKU-specific formula.

"Sepiapterin will become the third FDA-approved Phe-lowering medication. The approval is exciting because it offers an additional Phe-lowering option, and it may be appropriate for some people who have not achieved their treatment goals with the other 2 available medications and/or with the PKU diet," Hollander said. 

For metabolic care teams, the approval introduces new considerations for treatment planning. "Many individuals will still require a phenylalanine-restricted diet alongside this therapy. However, sepiapterin does offer a Phe-lowering effect that could allow individuals to liberalize their diet and eat more dietary phenylalanine and more dietary protein. For some people, it may lower their blood phenylalanine level enough that they could receive all the dietary protein they need from food, allowing them to discontinue use of the phenylalanine-restricted PKU formula. Anytime people on a restricted diet can liberalize their protein intake, it is a huge win."

Timothy Tramontana, MD, medical and biochemical geneticist at Cleveland Clinic Foundation, emphasized the broader impact. "The added benefit is that we currently have a drug called sapropterin, which we have been utilizing for a long time under the brand name Kuvan. Sepiapterin provides an alternative treatment to this, hopefully helping patients with extremely diminished levels of phenylalanine hydroxylase, the enzyme affected in this disorder. It is thought that patients even with null mutations or mutations that may be leaky—meaning there may be minimal to almost no enzyme—may benefit from this treatment. The drug has a chaperone effect; it can help with the conformation of the enzyme, which may be affected. Those with almost no enzyme activity may actually see benefit from it in reducing their phenylalanine levels compared with a drug like sapropterin." 

"It goes hand in hand; the approach has always centered on diet, with pharmacologic management as an adjunct to hopefully help liberalize diet. That approach has helped a number of people through the use of sapropterin and now with sepiapterin. The hope is to expand the number of patients who may be able to liberalize their diet and increase their protein intake. That is our goal for most of our patients: to help them live a more normal life in terms of intake. It may never be 100% protein unrestricted, but the hope is to liberalize it enough to allow increased intake," Tramontana added.

Both experts encouraged primary care providers to support continued specialty care. "For general practitioners working with individuals with PKU, we absolutely want you to encourage individuals with PKU in your practice to come to a PKU clinic, which may also be referred to as a metabolism or metabolic clinic. Even if someone has been away from clinic for many years, we always welcome people back so they can be made aware of these new treatment options," Hollander said.

"We are excited that there is another drug on the horizon that can help our patients live a more normal life and increase their protein intake," Tramontana added. "That is always exciting. General providers need to be aware that there are treatments available and should enlist the help of a biochemical geneticist. We work hand in hand with metabolic dietitians who are integral to the team and the management of these patients. Knowing that a new treatment may help patients further liberalize their protein intake is going to be important," Tramontana said. 

Suzanne Hollander, MS, RD, LDN; and Timothy Tramontana, MD, offer thoughts on newly FDA-approved sepiapterin for PKU.

Richard Auchus, MD, PhD, highlights data showing that crinecerfont use in children with CAH can improve metabolic outcomes. 

Crinecerfont demonstrates improvements in weight-related outcomes in children with CAH

Twelve-month findings from the phase 3 CAHtalyst pediatric trial presented at ENDO 2025 demonstrated that treatment with crinecerfont (Crenessity; Neurocrine Biosciences) led to improvements in weight-related outcomes for children with classic congenital adrenal hyperplasia (CAH) when combined with glucocorticoid therapy.

Richard Auchus, MD, PhD, professor of pharmacology and internal medicine at the University of Michigan, highlighted the metabolic risks these patients face. “Children with CAH have a high prevalence of obesity, as do adults with CAH, which places them at increased risk for cardiovascular disease,” he explained. "In adults, secondary to adrenal crisis, the second most common cause of death in CAH is cardiovascular disease. They have a significant metabolic risk, which begins developing in childhood due to prolonged exposure to the high doses of glucocorticoids traditionally necessary to manage the condition adequately."

The intention behind the trial was to determine whether adding crinecerfont—a CRF1 receptor antagonist—could lower adrenal androgens and allow for lower, more physiologic glucocorticoid doses. In the 28-week, double-blind period, androstenedione dropped by approximately 50% in the crinecerfont group, enabling an 18% glucocorticoid dose reduction, whereas dosing increased in the placebo group.

"In the crinecerfont group, BMI [body mass index] decreased following this period, whereas BMI slightly increased in the placebo group," said Auchus. "At the 28-week point, the placebo arm was crossed over into crinecerfont, and additional data presented showed that this transition resulted in reductions in androstenedione and 17-hydroxyprogesterone levels. This, in turn, allowed for glucocorticoid dose reduction and a subsequent decrease in BMI in the placebo group post crossover."

According to a press release from Neurocrine Biosciences, pediatric patients on crinecerfont achieved reductions in BMI standard deviation scores (SDSs) at week 28 and these improvements were maintained through week 52. For pediatric patients who had overweight or obesity at baseline (~ 60%), a higher percentage on crinecerfont achieved a reduction of at least 0.2 in BMI SDS compared with placebo. 

Auchus noted that after the placebo group crossed over to crinecerfont, they also experienced reductions in BMI and hormone levels, though “at 12 months, the improvement in BMI was greater in those who had received crinecerfont from the start.” He added that “even modest excesses in glucocorticoids appear harmful over the long term,” underscoring the value of early intervention. 

Crinecerfont was approved by the FDA in December 2024

 for use in adults and children 4 years or older with classic CAH, based on data showing meaningful reductions in glucocorticoid dosing and serum androgen levels. Its mechanism targets adrenal androgen overproduction directly, helping reduce reliance on high-dose steroids.

Kyriakie Sarafoglou, MD, discusses crinecerfont FDA approval for congenital adrenal hyperplasia

“General pediatricians will encounter these patients…. There is now an intervention that was not previously available,” Auchus said. “Evidence now shows that even small reductions in glucocorticoid dosing can significantly impact body weight and insulin sensitivity.” 

Neurocrine Biosciences presented one-year data from phase 3 CAHtalyst studies showing improvements in weight-related effects of glucocorticoid treatment at the 2025 Endocrine Society’s annual meeting. Press release. Neurocrine Biosciences. July 14, 2025. Accessed July 31, 2025. https://www.prnewswire.com/news-releases/neurocrine-biosciences-presented-one-year-data-from-phase-3-cahtalyst-studies-showing-improvements-in-weight-related-effects-of-glucocorticoid-treatment-at-the-2025-endocrine-societys-annual-meeting-302503670.html

Ebert M. FDA approves Crenessity for treatment of classic congenital adrenal hyperplasia. 

. December 13, 2024. Accessed July 31, 2025. https://www.contemporarypediatrics.com/view/fda-approves-crenessity-for-treatment-of-classic-congenital-adrenal-hyperplasia 

Richard Auchus, MD, PhD, highlights data showing that crinecerfont use in children with CAH can improve metabolic outcomes.

Richard Auchus, MD: Crinecerfont's positive weight-related outcomes in children with CAH

A 6-week, multicenter, double-blind, placebo-controlled phase 3 clinical trial found that high-dose centanafadine (CTN), a norepinephrine-dopamine- serotonin reuptake inhibitor (NDSRI), significantly improved symptoms of attention-deficit/hyperactivity disorder (ADHD) in children aged 6 to 12 years compared with placebo. Results of the study were published in 

CTN is an investigational, once-daily, extended-release treatment currently under development for ADHD in pediatric and adult populations. Findings from previous trials in adults have demonstrated its safety and efficacy. In this study, the primary end point was the mean change from baseline to week 6 in ADHD Rating Scale–5 (ADHD-RS-5) total raw scores.

A total of 480 participants were randomly assigned to receive either weight-based low-dose CTN (n = 154), high-dose CTN (n = 162), or placebo (n = 164). At week 6, the mean change from baseline in ADHD-RS-5 total scores was –16.3 (SE, 1.2) for the high-dose group compared with –10.8 (SE, 1.2) for placebo (

 < .001). The effect was evident as early as week 1 and maintained through week 6. The low-dose group showed a mean score reduction of –13.5 (SE, 1.2), which was not statistically significant compared with placebo (

“High-dose CTN showed separation from placebo as early as week 1, the first postbaseline time point, with the effect maintained throughout the study period,” the authors wrote.

High-dose CTN also significantly improved ADHD symptoms of inattention, hyperactivity/impulsivity, and executive functioning as measured by the Conners 3–Parent Short Form content scales. In contrast, changes in Clinical Global Impression of Severity (CGI-S-ADHD) scores at week 6 did not differ significantly across groups.

The trial assessed response rates based on 30%, 40%, and 50% reductions in ADHD-RS-5 scores and found significantly higher response in the high-dose CTN group vs placebo. Notably, 34% of participants in the high-dose CTN group achieved a reduction of 18 points or more in ADHD-RS-5 scores compared with 23% in the placebo group (

The safety population included 457 participants. Treatment-emergent adverse events (TEAEs) occurred in 39% of the high-dose group, 35% of the low-dose group, and 25% of the placebo group. The most commonly reported TEAEs were decreased appetite (5%), rash (3%), and vomiting (3%). All events were mild to moderate in severity, with 1 severe event (appendicitis) unrelated to the study drug.

Serious adverse events were rare. One participant in the high-dose group and 3 participants in the low-dose group experienced serious TEAEs, including suicide attempts and anxiety attacks. No deaths were reported. Six percent of participants in the high-dose group and 3% in the low-dose group discontinued treatment due to adverse events.

“The AE profile indicated a low likelihood of abuse,” the authors noted.

Limitations of the study include its short duration, lack of an active comparator, and generalizability constraints due to trial site location and exclusion of certain comorbidities. Long-term studies are needed to assess durability of response and ongoing safety.

“The NDSRI CTN was found to be safe and well tolerated for the treatment of ADHD in children aged 6 to 12 years,” the authors concluded. “This study found that the high dose was efficacious for the short-term treatment of ADHD in the population studied.”

Ward CL, Wilens TE, Jin N, Turkoglu O, Skubiak T, Childress AC. Efficacy and safety of centanafadine for ADHD treatment in children: a randomized clinical trial. 

High-dose centanafadine significantly improved ADHD symptoms in children aged 6 to 12 years and was well tolerated, according to findings from a phase 3 clinical trial.

Karen L. Teelin, MD

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