ECEESPE2025 Poster Presentations Adrenal and Cardiovascular Endocrinology (169 abstracts)
Paediatric peripheral adrenal insufficiency: Rare causes in an observational cohort
Mathilde Schermesser-Sicard 1 , Dinane Samara-Boustani 1,2 , Roucher Florence 3,4 , Graziella Pinto 1,2 , Jean-Claude Carel 2,5,6 , Adrien Nguyen Quoc 1 , Gaëlle Vermillac 1 , Sibylle Rovani 1,6 , Caroline Thalassinos 1 , Sabrina Da Costa 1,7 , Maria Beatriz Arrom Branas 1 , Isabelle Flechtner 1 , Yamina Dassa 1 , Laura González-Briceño 1 , Magali Viaud 1,2 , Alix Besançon 1 , Jacques Beltrand 1,6 , Athanasia Stoupa 1,6,8 , Michel Polak 1,6,8 & Kariyawasam Dulanjalee 1,2,6
1Necker-Enfants Malades University Hospital, Pediatric Endocrinology, Diabetology and Gynecology Department, Paris, France; 2Centre Maladies Rares de la Croissance et du Développement, Paris, France; 3Hospices Civils de Lyon, LBMMS, Service de Biochimie et Biologie moléculaire, Centre de Biologie et de Pathologie Est, Lyon, France; 4Université Claude Bernard Lyon 1, Lyon, France; 5Robert Debré University Hospital, Pediatric Endocrinology and Diabetology Department, Paris, France; 6Paris Cité University, Paris, France; 7Centre de Référence des Pathologies Gynécologiques Rares, Paris, France; 8Paris regional Newborn Screening Program Department, Paris, France
JOINT1750
Objective: Peripheral adrenal insufficiency (PAI) is a rare, chronic condition causing life-threatening complications. The main cause is 21-hydroxylase deficiency. Identifying other rare causes is difficult but crucial to ensure timely diagnosis and optimal management. The objective of this study was to describe rare causes of paediatric PAI.
Design: Observational, retrospective, single-centre, cohort study
Methods: Descriptive analysis of data from patient files
Results: Of 213 patients younger than 18 years who were diagnosed with PAI between 1980 and 2023, 172 had assessable data, including 113 with 21-hydroxylase deficiency and 59 (52%) with rare causes of PAI. Rare causes included monogenic diseases (n=38, 64%, such as non 21-hydroxylase deficiency congenital adrenal hyperplasia(CAH), X-linked adrenoleukodystrophy, Triple A syndrome, MIRAGE syndrome, Xp21 continuous gene deletion syndrome, NNT deficiency), auto-immune disorders (n=15, 25%), and bilateral adrenal haemorrhage (n=3); in 3 patients, no cause was identified. Median age at diagnosis varied greatly depending on the aetiology: from 4 days of life for MIRAGE syndrome to 10.5 years for isolated auto-immune PAI. Symptoms of chronic and/or acute adrenal insufficiency were noted at presentation in 39 (66%) patients, including half with both chronic and acute symptoms. Median follow-up was 7.6 years and 28 (48%) patients attained adult height at last visit. The mortality rate was 6/59 (10%), with MIRAGE syndrome as the most common cause of death (4/6 deaths). Acute adrenal crisis occurred in 26 (45%) patients, usually due to poor treatment adherence. Excess weight was a common complication (16/59, 27%), not correlated with the daily hydrocortisone dosage. Data on puberty were available for 37 patients: puberty was normal in 26 (72%), early in 6 (17%), and delayed in 5 (14%). Of the 9 patients with CAH in post-pubertal ages, 3 (33%) experienced either precocious or advanced puberty and 2, both females, required puberty-inducing hormonal therapy (P450 oxidoreductase deficiency and P450scc deficiency, respectively). All 3 patients with NNT deficiency experienced precocious puberty, which was initially peripheral (Leydig cell adenoma, testicular adrenal inclusions) at about 5 years of age then central puberty. Statural growth outcomes were satisfactory: mean final height was −1.1 SDS in males and −0.4 SDS in females and median height in the 27 patients who did not attain their adult height during follow-up was −0.4 SDS.
Conclusion: The wide range of rare causes of PAI raises diagnostic challenges. In most cases, however, the cause can be determined, allowing optimal therapy. Treatment adherence deserves careful attention.
Volume 110
Article tools
My recent searches
My recently viewed abstracts
Authors
Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
© Bioscientifica 2025 |
Privacy policy |
Cookie settings
BiosciAbstracts
Bioscientifica Abstracts is the gateway to a series of products that provide a permanent, citable record of abstracts for biomedical and life science conferences.
Find out more