Pediatric Primary Adrenal Insufficiency: A 21-year Single Center Experience

Çamtosun, Emine; Dündar, İsmail; Akıncı, Ayşehan; Kayaş, Leman; Çiftçi, Nurdan

doi:10.4274/jcrpe.galenos.2020.2020.0132

Cited by 8 publications

(3 citation statements)

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“…NR5A1, NNT and AAAS mutations were also found. PAI is rare in different countries and regions (Table 3), with <10 cases reported yearly (12)(13)(14)(15)(16)(17)(18). However, this number does not include undiagnosed patients.…”

Section: Discussionmentioning

confidence: 99%

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

Liu

Kang

et al. 2022

Front. Pediatr.

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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.

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Section: Discussionmentioning

confidence: 99%

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

Liu

Kang

et al. 2022

Front. Pediatr.

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“…Additionally, it has been shown that mutations in the AAAS gene lead to reduction in mechanisms that are involved in DNA repair and the protection of cells against oxidative stress (5,20,21). In previous studies conducted on TAS, it has been found that adrenal insu ciency usually develops within the rst 10 years of life [6, [13][14][15][16]22]. In fact, in a recent study conducted in our country, in which 23 patients were included, it was reported that adrenal insu ciency developed in 78% of the patients, and 83.3% of these patients were diagnosed with adrenal insu ciency before the age of 5 (14).…”

Section: Discussionmentioning

confidence: 99%

Identification of two novel and four known mutation in the AAAS gene in unrelated Turkish Families

Yıldırım

Ünal

Unal

et al. 2022

Preprint

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Aim Triple-A Syndrome(TAS) is a rare autosomal recessive disorder characterized by adrenal insufficiency, achalasia, and alacrimia. This disorder is caused by mutations in the AAAS gene. The aim of this study is to discuss the clinical, laboratory and molecular genetic analysis results of who were diagnosed with TAS. Method We evaluated 12 patients from 8 families. All exons and exon-intron junctions of the AAAS gene were evaluated by next generation sequencing method. Detected variants were classified according to American Collage of Medical Genetics criteria. Results Alacrimia was found in all of them(100%); achalasia was found in 10 patients(83.3%) and adrenal insufficiency was found in 10 patients(83.3%). In addition, hyperreflexia(6/12), learning disability(5/12), hypernasal speech(5/12), muscle weakness(8/12), delayed walking(7/12), delayed speech(6/12), excessive sweating(7/12), optic atrophy(1/12), epilepsy(1/12), palmoplantar hyperkeratosis(5/12), multiple dental caries(9/12), atrophy of the thenar/hypothenar muscles(4/12) and short stature(4/12) were detected. The DHEA-S levels were measured in 10 patients and were found to be low in 8 of them. In all patients, the sodium and potassium levels were found to be normal. Six different homozygous pathogenic variants, 2 of which had not been previously reported, were detected. Conclusion We detected two novel variants in the AAAS gene. The earliest sign of TAS is alacrimia. In all cases, particularly with alacrimia or achalasia, adrenal insufficiency should be investigated and if necessary, genetic analysis should be performed for TAS. Additionally, in patients diagnosed with TAS, apart from the classic triad, especially neurological dysfunction and skin and dental pathologies should be investigated and followed up with a multidisciplinary approach.

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“…Primary adrenal insufficiency is a condition in which the adrenal glands no longer produce cortisol. The most common cause is Addison's disease, an autoimmune disease of the adrenal glands ( 44 ).…”

Section: Skin Changes In Other Rare Endocrinopathiesmentioning

confidence: 99%

Skin manifestations in rare types of diabetes and other endocrine conditions

Reschke

Biester

Berge

et al. 2023

Endocrine Connections

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As the most visible and vulnerable organ of the human organism, the skin can provide an impression of its state of health. Rare forms of diabetes and endocrinopathies are often diagnosed late or primarily misinterpreted due to their rarity. Skin peculiarities associated with these rare diseases may be indicative of the underlying endocrinopathy or form of diabetes. At the same time, rare skin changes in diabetes or endocrinopathies can also be a major challenge for dermatologists, diabetologists and endocrinologists in optimal patient and therapy management. Active collaboration between these different specialist groups can therefore lead to increased patient safety, better therapeutic success and more targeted diagnostics.

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Pediatric Primary Adrenal Insufficiency: A 21-year Single Center Experience

Cited by 8 publications

References 0 publications

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

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

Identification of two novel and four known mutation in the AAAS gene in unrelated Turkish Families

Skin manifestations in rare types of diabetes and other endocrine conditions

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