Pediatric Adrenal Insufficiency: Challenges and Solutions

Nisticò, Daniela; Bossini, Benedetta; Benvenuto, Simone; Pellegrin, Maria Chiara; Tornese, Gianluca

doi:10.2147/tcrm.s294065

Cited by 18 publications

(21 citation statements)

References 59 publications

(102 reference statements)

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“…It should be repeated if symptoms occur. The proposed hydrocortisone replacement doses are given in Table 4 (7,20). At present, however, there are no…”

Section: Discussionmentioning

confidence: 99%

Adrenal insufficiency in patients with Prader-Willi syndrome

Kusz

Gawlik

2022

Front. Endocrinol.

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The generalized dysfunction of the hypothalamic-pituitary axis in patients with Prader-Willi syndrome (PWS) is the most likely cause of hypogonadism, inadequate growth hormone secretion, excessive appetite and associated obesity, impaired body temperature regulation, and hypothyroidism. The syndrome is also related to an increased risk of central adrenal insufficiency, although its prevalence remains unknown. The results of the studies in which different methods of pharmacological stimulation were used do not provide conclusive outcomes. As a result, there are no clear guidelines with regard to diagnosis, prevention, or long-term care when adrenal insufficiency is suspected in patients with PWS. Currently, most patients with PWS are treated with recombinant human growth hormone (rhGH). It has been confirmed that rhGH therapy has a positive effect on growth, body composition, body mass index (BMI), and potentially on psychomotor development in children with PWS. Additionally, rhGH may reduce the conversion of cortisone to cortisol through inhibition of 11β-hydroxysteroid dehydrogenase type 1. However, its influence on basal adrenal function and adrenal stress response remains unexplained in children with PWS. This paper reviews the literature related to the hypothalamic-pituitary-adrenal axis dysfunction in the PWS patient population with a focus on children.

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“…It should be repeated if symptoms occur. The proposed hydrocortisone replacement doses are given in Table 4 (7,20). At present, however, there are no…”

Section: Discussionmentioning

confidence: 99%

Adrenal insufficiency in patients with Prader-Willi syndrome

Kusz

Gawlik

2022

Front. Endocrinol.

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Section: Methodsmentioning

confidence: 99%

“…Candidiasis is part of APS1, also called autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy (APECED), a rare monogenetic condition underlying autoimmune regulator ( AIRE ) gene mutation on chromosome 21q22.3 [ 53 , 54 , 55 ]. The AIRE protein is responsible for immune self-tolerance which causes immune dysregulation and autoimmune conditions in APS1, typically involving the classical triad: AD, hypoparathyroidism, and chronic cutaneomucosal candidiasis [ 53 , 54 , 55 ]. Hypoparathyroidism is usually the first endocrine manifestation and the most common condition; moreover, APS1 includes type 1 diabetes mellitus (DM), autoimmune hypothyroidism, premature ovarian failure, and other nonendocrine disorders [ 56 , 57 ].…”

Section: Methodsmentioning

confidence: 99%

“…Oral candidiasis must be recognized in relationship with APS-related adrenal insufficiency, especially in the pediatric population, since the syndrome onset typically occurs during childhood with a progressive risk of multiple organ involvement [ 54 , 61 ]. One particular clue before the actual endocrine diagnosis might be recurrent oral thrush [ 62 ].…”

Section: Methodsmentioning

confidence: 99%

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New Approach to Addison Disease: Oral Manifestations Due to Endocrine Dysfunction and Comorbidity Burden

et al. 2022

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This review highlights oral anomalies with major clinical impact in Addison disease (AD), including dental health and dermatologic features, through a dual perspective: pigmentation issues and AD comorbidities with oral manifestations. Affecting 92% of AD patients, cutaneomucosal hyperpigmentation is synchronous with or precedes general manifestations by up to a decade, underlying melanocytic infiltration of the basal epidermal layer; melanophages in the superficial dermis; and, rarely, acanthosis, perivascular lymphocytic infiltrate, and hyperkeratosis. Intraoral pigmentation might be the only sign of AD; thus, early recognition is mandatory, and biopsy is helpful in selected cases. The buccal area is the most affected location; other sites are palatine arches, lips, gums, and tongue. Pigmented oral lesions are patchy or diffuse; mostly asymptomatic; and occasionally accompanied by pain, itchiness, and burn-like lesions. Pigmented lingual patches are isolated or multiple, located on dorsal and lateral areas; fungiform pigmented papillae are also reported in AD individuals. Dermoscopy examination is particularly indicated for fungal etiology; yet, it is not routinely performed. AD’s comorbidity burden includes the cluster of autoimmune polyglandular syndrome (APS) type 1 underlying AIRE gene malfunction. Chronic cutaneomucosal candidiasis (CMC), including oral CMC, represents the first sign of APS1 in 70–80% of cases, displaying autoantibodies against interleukin (IL)-17A, IL-17F ± IL-22, and probably a high mucosal concentration of interferon (IFN)-γ. CMC is prone to systemic candidiasis, representing a procarcinogenic status due to Th17 cell anomalies. In APS1, the first cause of mortality is infections (24%), followed by oral and esophageal cancers (15%). Autoimmune hypoparathyroidism (HyP) is the earliest endocrine element in APS1; a combination of CMC by the age of 5 years and dental enamel hypoplasia (the most frequent dental complication of pediatric HyP) by the age of 15 is an indication for HyP assessment. Children with HyP might experience short dental roots, enamel opacities, hypodontia, and eruption dysfunctions. Copresence of APS-related type 1 diabetes mellitus (DM) enhances the risk of CMC, as well as periodontal disease (PD). Anemia-related mucosal pallor is related to DM, hypothyroidism, hypogonadism, corresponding gastroenterological diseases (Crohn’s disease also presents oral ulceration (OU), mucogingivitis, and a 2-3 times higher risk of PD; Biermer anemia might cause hyperpigmentation by itself), and rheumatologic diseases (lupus induces OU, honeycomb plaques, keratotic plaques, angular cheilitis, buccal petechial lesions, and PD). In more than half of the patients, associated vitiligo involves depigmentation of oral mucosa at different levels (palatal, gingival, alveolar, buccal mucosa, and lips). Celiac disease may manifest xerostomia, dry lips, OU, sialadenitis, recurrent aphthous stomatitis and dental enamel defects in children, a higher prevalence of caries and dentin sensitivity, and gingival bleeding. Oral pigmented lesions might provide a useful index of suspicion for AD in apparently healthy individuals, and thus an adrenocorticotropic hormone (ACTH) stimulation is useful. The spectrum of autoimmune AD comorbidities massively complicates the overall picture of oral manifestations.

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“…Conditions associated with hypoglycemia may require a bolus of dextrose, and if hyperkalemia occurs, ECG abnormalities should be monitored (Hubby et al 2016). If misdiagnosed, the disease can be fatal, causing coma and unexplained infant death (Nisticò et al 2022). It can be challenging to diagnose and manage a case.…”

Section: Introductionmentioning

confidence: 99%

Diagnosis and Management of Adrenal Crisis in 46XX Congenital Adrenal Hyperplasia Infant

Rochmah

Faizi²,

Kusumastuti³

et al. 2022

FMI

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Highlight: The diagnosis and therapy of Congenital Adrenal Hyperplasia (CAH) children with Adrenal crisis (AC) case report. Adrenal crisis (AC) is a life-threatening emergency that contributes to the high death rate of children with adrenal insufficiency. The early detection and prompt treatment can improve the outcomes of patients with CAH and AC. Abstract: Adrenal crisis is the acute complication of the patient with congenital adrenal hyperplasia. Congenital adrenal hyperplasia (CAH) is a rare condition. Children with CAH commonly come to the emergency room due to acute complications. The condition has high mortality and thus needs early recognition. Newborn screening for CAH in Indonesia is not routinely performed and has not been suggested yet. The purpose of this case report was to report a case of adrenal crisis in a congenital adrenal hyperplasia patient focused on diagnosis and therapy. A female, 10 months old infant, was admitted to the emergency department with a chief complaint of a decrease of consciousness for 3 hours before admission and frequent vomiting since born. On physical examination, there was clitoromegaly. Laboratory showed 17-OH progesterone: 173 ng/dL (7-77 ng/dL) and karyotyping: 46 XX. Management of adrenal crisis is a stress dose of hydrocortisone and rehydration. Education is the key to optimal outcomes and normal growth and development.

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Pediatric Adrenal Insufficiency: Challenges and Solutions

Cited by 18 publications

References 59 publications

Adrenal insufficiency in patients with Prader-Willi syndrome

Adrenal insufficiency in patients with Prader-Willi syndrome

New Approach to Addison Disease: Oral Manifestations Due to Endocrine Dysfunction and Comorbidity Burden

Diagnosis and Management of Adrenal Crisis in 46XX Congenital Adrenal Hyperplasia Infant

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