The etiology and clinical features of non-CAH primary adrenal insufficiency in children

Abstract

BackgroundThe most common cause of primary adrenal insufficiency (PAI) in children is congenital adrenal hyperplasia; however, other genetic causes occur. There is limited epidemiological and clinical information regarding non-CAH PAI.MethodsData for patients diagnosed from January 2015 to December 2021 at a tertiary hospital in northern China were retrospectively analyzed. We excluded those with CAH, which is the most common pathogenic disease among PAI patients. Next-generation sequencing was used for genetic analysis.ResultsThis retrospective study included 16 children (14 males and 2 females) with PAI. A genetic diagnosis was obtained for 14/16 (87.5%) individuals. Pathogenic variants occurred in 6 genes, including ABCD1 (6/16, 37.5%), NR0B1 (4/16, 25.0%), NR5A1/steroidogenic factor-1 (2/16; 12.5%), AAAS (1/16, 6.25%), and NNT (1/16, 6.25%). No genetic cause of PAI diagnosis was found in 2 girls (2/16, 12.5%).ConclusionsCauses of PAI in children are diverse and predominantly affect males. Most PAI in children is congenital, and ABCD1 gene defects account for the largest proportion of PAI cases. Whole-exome sequencing is a tool for diagnosis. However, diagnoses are unclear in some cases.

Addison’s Disease: Diagnosis and Management Strategies

“… 52 A retrospective, single-center study (Northern China, between 2015 and 2021) on 16 pediatric patients with non-CAH AD showed through a next-generation sequencing analysis that 87.5% of them had a gene mutation, ABCD1 being the most frequent (37.5%) followed by NR0B1 (25.0%), NR5A1 (12.5%), and 6.25% for each AAAS , and NNT . 53 …”

“…52 A retrospective, single-center study (Northern China, between 2015 and 2021) on 16 pediatric patients with non-CAH AD showed through a next-generation sequencing analysis that 87.5% of them had a gene mutation, ABCD1 being the most frequent (37.5%) followed by NR0B1 (25.0%), NR5A1 (12.5%), and 6.25% for each AAAS, and NNT. 53 An interesting analysis on reported cases included 55 patients with sphingosine-1-phosphate lyase insufficiency syndrome (SPLIS) harboring SGPL1 mutations; 71.2% of patients had AD and 32.7% had hypothyroidism with kidney disorders affecting 80% of them; among 30 SGPL1 mutations, the most frequent was c.665G > A (p.Arg222Gln) in onefifth of cases. 67 According to Ron et al, since 2017 when SGPL1 mutations were first identified, 36 cases were reported…”

Pulmonary Thrombotic Complication of Mycoplasma pneumoniae Pneumonia in Chinese Children: Clinical Feature and Risk Factor Analysis

“…3,4 Pulmonary thrombosis (PT) is the most frequent thrombotic complication of MPP in children, 4,5 and domestic literature reports that Mycoplasma pneumoniae (MP) infection is one of the main risk factors for PT in this population. 6 Without timely diagnosis and treatment, PT ranks as the third leading cause of MPP-related mortality. 7 Currently, there is a paucity of literature on risk factors for PT in patients with MPP.…”