Should we routinely assess hypothalamic-pituitary-adrenal axis in pediatric patients with Prader-Willi syndrome?

Autor:	Wędrychowicz AM; Department of Pediatric and Adolescent Endocrinology, Jagiellonian University Medical College, Kraków, Lesser Poland, Poland.; Department of Pediatric and Adolescent Endocrinology, University Children's Hospital of Cracow, Cracow, Poland., Doleżal-Ołtarzewska K; Department of Pediatric and Adolescent Endocrinology, University Children's Hospital of Cracow, Cracow, Poland., Zygmunt-Górska A; Department of Pediatric and Adolescent Endocrinology, University Children's Hospital of Cracow, Cracow, Poland., Kalicka-Kasperczyk AU; Department of Pediatric and Adolescent Endocrinology, Jagiellonian University Medical College, Kraków, Lesser Poland, Poland.; Department of Pediatric and Adolescent Endocrinology, University Children's Hospital of Cracow, Cracow, Poland., Tyrawa K; Department of Pediatric and Adolescent Endocrinology, University Children's Hospital of Cracow, Cracow, Poland., Wojcik M; Department of Pediatric and Adolescent Endocrinology, Jagiellonian University Medical College, Kraków, Lesser Poland, Poland.; Department of Pediatric and Adolescent Endocrinology, University Children's Hospital of Cracow, Cracow, Poland., Janus D; Department of Pediatric and Adolescent Endocrinology, Jagiellonian University Medical College, Kraków, Lesser Poland, Poland.; Department of Pediatric and Adolescent Endocrinology, University Children's Hospital of Cracow, Cracow, Poland., Kot A; Department of Pediatric and Adolescent Endocrinology, University Children's Hospital of Cracow, Cracow, Poland., Lecka-Ambroziak A; Department of Endocrinology and Diabetology, The Children's Memorial Health Institute, Warsaw, Masovian, Poland.; Endocrinology Outpatient Clinic, Institute of Mother and Child, Warsaw, Masovian, Poland., Petriczko E; Department of Pediatrics, Endocrinology, Diabetes, Metabolic Disorders and Cardiology of Developmental Age, Pomeranian Medical University, Szczecin, West Pomeranian, Poland., Wielopolska J; Department of Pediatrics, Endocrinology, Diabetes, Metabolic Disorders and Cardiology of Developmental Age, Pomeranian Medical University, Szczecin, West Pomeranian, Poland., Starzyk J; Department of Pediatric and Adolescent Endocrinology, Jagiellonian University Medical College, Kraków, Lesser Poland, Poland.; Department of Pediatric and Adolescent Endocrinology, University Children's Hospital of Cracow, Cracow, Poland.
Jazyk:	angličtina
Zdroj:	Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2024 Jun 27; Vol. 15, pp. 1406931. Date of Electronic Publication: 2024 Jun 27 (Print Publication: 2024).
DOI:	10.3389/fendo.2024.1406931
Abstrakt:	Background: It has been reported that central adrenal insufficiency (CAI) in pediatric patients (pts) with Prader-Willi syndrome (PWS) may be a potential cause of their sudden death. In addition, the risk of CAI may increase during treatment with recombinant human growth hormone (rhGH). Objective: To prevent both over- and undertreatment with hydrocortisone, we evaluated the prevalence of CAI in a large multicenter cohort of pediatric pts with PWS analyzing adrenal response in the low-dose ACTH test (LDAT) and/or the glucagon stimulation test (GST) and reviewing the literature. Methods: A total of 46 pts with PWS were enrolled to the study, including 34 treated with rhGH with a median dose of 0.21 mg/kg/week. LDAT was performed in 46 pts, and GST was carried out in 13 pts. Both tests were conducted in 11 pts. The tests began at 8:00 a.m. Hormones were measured by radioimmunoassays. Serum cortisol response >181.2 ng/mL (500 nmol/L) in LDAT and >199.3 ng/mL (550 nmol/L) in GST was considered a normal response. Additionally, cortisol response delta (the difference between baseline and baseline) >90 ng/mL and doubling/tripling of baseline cortisol were considered indicators of normal adrenal reserve. Results: Three GSTs were not diagnostic (no hypoglycemia obtained). LDAT results suggested CAI in four pts, but in two out of four pts, and CAI was excluded in GST. GST results suggested CAI in only one patient, but it was excluded in LDAT. Therefore, CAI was diagnosed in 2/46 pts (4.3%), 1 treated and 1 untreated with rhGH, with the highest cortisol values of 162 and 175 ng/dL, but only in one test. However, in one of them, the cortisol delta response was >90 ng/mL and peak cortisol was more than tripled from baseline. Finally, CAI was diagnosed in one patient treated with rhGH (2.2%). Conclusion: We present low prevalence of CAI in pediatric pts with PWS according to the latest literature. Therefore, we do not recommend to routinely screen the function of the hypothalamic-pituitary-adrenal axis (HPAA) in all pts with PWS, both treated and untreated with rhGH. According to a review of the literature, signs and symptoms or low morning ACTH levels suggestive of CAI require urgent and appropriate diagnosis of HPAA by stimulation test. Our data indicate that the diagnosis of CAI should be confirmed by at least two tests to prevent overtreatment with hydrocortisone. Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. (Copyright © 2024 Wędrychowicz, Doleżal-Ołtarzewska, Zygmunt-Górska, Kalicka-Kasperczyk, Tyrawa, Wojcik, Janus, Kot, Lecka-Ambroziak, Petriczko, Wielopolska and Starzyk.)
Databáze:	MEDLINE
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