CONTEXT: @entity261 is characterised by hypocalcaemia, hyperphosphataemia, and low or inappropriately normal @entity461 ( @entity461 ) levels. Idiopathic or genetic drivers are the predominant causes of @entity261 in paediatric-age @entity1 . OBJECTIVE: This study investigated the aetiology and clinical course of @entity261 in infancy and childhood. SUBJECTS AND MEASUREMENTS: This study included 37 @entity1 (23 males, 14 females) with @entity261 diagnosed prior to 18 years of age. We analysed aetiologies, initial presentation, age at diagnosis, endocrine and radiological findings, and outcomes. RESULTS: The median age at presentation was 1.7 months (range 1 day-17 years), and the mean follow-up duration was 7.0    5.3 years (range 0.5-16.8 years). Our cohort included 22 cases (59.5%) of 22q11.2 microdeletion syndrome. Other aetiologies included @entity8 (5/37, 13.5%) and one @entity1 each with @entity12010 , @entity12295 , and @entity68300 . The remaining 7 (18.9%) @entity1 were classified as @entity261 cases. Among the 15 @entity1 who underwent brain imaging, 5 (33.3%) had @entity15206 . Among the 26 @entity1 examined by renal imaging, 5 (19.2%) had either @entity11604 or a @entity1290 . After 11 months of @entity460 or @entity3873 supplementation, 16 @entity1 (43.2%) discontinued medication. The final @entity461 levels were significantly higher in @entity1 with @entity261 than those with permanent @entity261 . CONCLUSIONS: Identification of the genetic aetiologies of @entity261 makes it possible to predict @entity1 outcomes and provide appropriate genetic counselling. Long-term treatment with @entity460 and @entity3873 necessitates monitoring for renal complications. This article is protected by copyright. All rights reserved.

Diverse Genetic Aetiologies and Clinical Outcomes of XXXX .

@entity1 :: ('9606', 'Species') :: ['patients', 'patient'] @entity8 :: ('MESH:D007674', 'Disease') :: ['hypoparathyroidism-deafness-renal dysplasia syndrome'] @entity3873 :: ('MESH:D002117', 'Chemical') :: ['calcitriol'] @entity12295 :: ('MESH:D007625', 'Disease') :: ['Kearns-Sayre syndrome'] @entity11604 :: ('MESH:D009397', 'Disease') :: ['nephrocalcinosis'] @entity68300 :: ('MESH:C537020', 'Disease') :: ['Kenny-Caffey syndrome'] @entity261 :: ('MESH:D007011', 'Disease') :: ['idiopathic hypoparathyroidism', 'Hypoparathyroidism', 'primary hypoparathyroidism', 'transient hypoparathyroidism', 'hypoparathyroidism'] @entity1290 :: ('MESH:D007669', 'Disease') :: ['renal stone'] @entity460 :: ('MESH:D002118', 'Chemical') :: ['calcium'] @entity12010 :: ('MESH:D016884', 'Disease') :: ['autoimmune polyglandular syndrome type 1'] @entity15206 :: ('MESH:C535607', 'Disease') :: ['basal ganglia calcification'] @entity461 :: ('5741', 'Gene') :: ['PTH', 'parathyroid hormone']
@entity261 :: (MESH:D007011,Disease) :: ['Paediatric Hypoparathyroidism']
