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result(s) for
"Heksch, Ryan A."
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Testicular Regression Syndrome: Practice Variation in Diagnosis and Management
by
Swartz, Jonathan M.
,
Jayanthi, Venkata R.
,
Chan, Yee-Ming
in
Adolescent
,
Adrenal Hyperplasia, Congenital
,
Child
2019
The purpose of this study was to assess clinical practice patterns with regard to diagnosis and management of testicular regression syndrome (TRS), a condition in 46,XY males with male phenotypic genitalia and bilateral absence of testes.
A retrospective review was conducted at two large pediatric academic centers to examine diagnostic and management approaches for TRS.
Records of 57 patients were reviewed. Diagnostic methods varied widely between patients and included hormonal testing, karyotype, imaging, and surgical exploration, with multiple diagnostic methods frequently used in each patient. Of the 30 subjects that had reached adolescence at the time of the study, 17 (57%) had gaps in care of more than 5 years during childhood. Thirty subjects had received testosterone replacement therapy at a mean age of 12.1 ± 1.0 years. Forty-seven percent had a documented discussion of infertility. Eighty-two percent discussed prosthesis placement, with 35% having prostheses placed. Twenty-three percent were seen by a psychosocial provider. The between-site differences were age at fertility discussion, age at and number of prostheses placed, and type/age of testosterone initiation.
Our findings highlight the wide variation in diagnostic approaches, follow-up frequency, testosterone initiation, fertility counseling, and psychosocial support for patients with TRS. Developing evidence-based guidelines for the evaluation and management of TRS would help reduce inconsistencies in care and unnecessary testing. Ongoing follow-up and coordination of care, even during the years when no hormonal treatment is being administered, could lead to opportunities for psychosocial support and improved interdisciplinary approach to care.
= antimüllerian hormone;
= congenital adrenal hyperplasia;
= differences/disorders of sex development;
= human chorionic gonadotropin;
= testicular regression syndrome.
Journal Article
Change in Age of Diagnosis and Demographics of Type 1 Diabetes Mellitus During the COVID‐19 Era
2025
Since COVID‐19 onset, pediatric endocrinologists have been making an assumption that there was a shift in diagnosis age of type 1 diabetes mellitus (T1DM) to younger children. Younger children are more likely to present in DKA, are more difficult to diagnose and treat, and age at diagnosis can affect prognosis. We performed a retrospective chart review of patients diagnosed with T1DM for 3 years before COVID‐19 and the 3 years during COVID‐19. Demographics were evaluated using the Chi‐squared test for categorical data and Student’s t ‐test or ANOVA for continuous data. During this time, 698 patients were diagnosed with T1DM, with more patients during COVID‐19. The average age of diagnosis significantly increased by 0.7 years ( p = 0.025). There was a significant difference in the distribution of age groups between the two time periods ( p = 0.0065). There was a significant decrease in new cases among patients between the ages of 2–5 years from 2017 to 2020, a transient finding as they reverted back to previous rates by 2022. New diagnoses between 13 and 18 years were increasing prior to 2020 (7%–23%), subsequently leveling out. Patients were 1.6 times more likely to present in DKA during COVID‐19; however, there was no significant change in hemoglobin A1c (HbA1c). There was no significant change in thyroperoxidase (TPO) antibody positivity. There was a significant decrease ( p = 0.018) in patients with elevated tissue transglutaminase (TTG)‐IgA from pre‐COVID to post‐COVID. Average age at diagnosis in our cohort increased since the start of COVID‐19, contradicting previous studies and our hypothesis. The number of new cases increased, and the age distribution changed. There was a significant decrease in number of younger patients in 2020, followed by a normalization of new cases in those 2–5 years old, which may have led to the belief that more toddlers were being diagnosed. The rate of other antibodies did not increase. These results illustrate that changes in demographics may have been short‐lived post‐COVID‐19.
Journal Article
Management and Appropriate Use of Diazoxide in Infants and Children with Hyperinsulinism
2020
The diagnosis of hypoglycemia and the use of diazoxide have risen in the last decade. Diazoxide is the only Food and Drug Agency-approved pharmacologic treatment for neonatal hypoglycemia caused by hyperinsulinism (HI). Recent publications have highlighted that diazoxide has serious adverse effects (AEs) such as pulmonary hypertension (2-3%) and neutropenia (15%). Despite its increasing use, there is little information regarding dosing of diazoxide and/or monitoring for AEs.
We convened a working group of pediatric endocrinologists who were members of the Drug and Therapeutics Committee of the Pediatric Endocrine Society (PES) to review the available literature. Our committee sent a survey to its PES members regarding the use of diazoxide in their endocrine practices. Our review of the results concluded that there was substantial heterogeneity in usage and monitoring for AEs for diazoxide among pediatric endocrinologists.
Based on our extensive literature review and on the lack of consensus regarding use of diazoxide noted in our PES survey, our group graded the evidence using the framework of the Grading of Recommendations, Assessment, Development and Evaluation Working Group, and has proposed expert consensus practice guidelines for the appropriate use of diazoxide in infants and children with HI. We summarized the information on AEs reported to date and have provided practical ideas for dosing and monitoring for AEs in infants treated with diazoxide.
Journal Article
Practice Variation among Pediatric Endocrinologists in the Dosing of Glucocorticoids in Young Children with Congenital Adrenal Hyperplasia
by
Simpson, Leslie Long
,
Thornton, Paul
,
Gupta, Anshu
in
Adrenogenital syndrome
,
Androgens
,
Bioavailability
2023
A Pediatric Endocrine Society (PES) Drugs and Therapeutics Committee workgroup sought to determine the prescribing practices of pediatric endocrinologists when treating children <10 years of age with congenital adrenal hyperplasia (CAH). Our workgroup administered a 32-question online survey to PES members. There were 187 respondents (88.9% attending physicians), mostly from university-affiliated clinics (~80%). Ninety-eight percent of respondents prescribed the short-acting glucocorticoid hydrocortisone to treat young children, as per the Endocrine Society CAH Guidelines, although respondents also prescribed long-acting glucocorticoids such as prednisolone suspension (12%), prednisone tablets (9%), and prednisone suspension (6%). Ninety-seven percent of respondents indicated that they were likely/very likely to prescribe hydrocortisone in a thrice-daily regimen, as per CAH Guidelines, although 19% were also likely to follow a twice-daily regimen. To achieve smaller doses, using a pill-cutter was the most frequent method recommended by providers to manipulate tablets (87.2%), followed by dissolving tablets in water (25.7%) to create a daily batch (43.7%) and/or dissolving a tablet for each dose (64.6%). Thirty-one percent of providers use pharmacy-compounded hydrocortisone suspension to achieve doses of <2.5 mg. Our survey shows that practices among providers in the dosing of young children with CAH vary greatly and sometimes fall outside of the CAH Guidelines—specifically when attempting to deliver lower, age-appropriate hydrocortisone doses.
Journal Article