Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society* Clinical Practice Guideline

Speiser, Phyllis; Arlt, Wiebke; Auchus, Richard J.; Baskin, Laurence S.; Conway, Gerard S.; Merke, Deborah P.; Meyer‐Bahlburg, Heino F. L.; Miller, Walter L.; Murad, M Hassan; Oberfield, Sharon E.; White, Perrin C.

doi:10.1210/jc.2018-01865

Cited by 863 publications

(1,325 citation statements)

References 400 publications

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“…Deste modo, a pesquisa da reserva de corticoide adrenal está indicada por rotina nos doentes com HCSR-NC 8 . Os doentes com HCSR-NC têm indicaç ão para tratamento com hidrocortisona em situaç ões de stress se a sua funç ão adrenal for subótima na prova de Synacthen (cortisol após estimulaç ão < 18-20 g/dl) ou estiver iatrogenicamente suprimida 6,7,13 .…”

Section: Importância Do Diagnóstico Diferencial Na Pubarca Precoceunclassified

“…Conclui-se, portanto, que não há consenso quanto ao limiar de 17-OHP basal a usar em doentes em idade pediátrica e se a prova de Synacthen deve ou não ser realizada em todos os doentes com suspeita de PP. A Endocrine Society defende que deve ser feito um perfil hormonal completo com prova de Synachten para diagnóstico em casos borderline 13 .…”

Section: Características Clínicas E Perfil Hormonal Basalunclassified

“…No estudo de Torok et al 9 a secreç ão de cortisol aos 60 minutos foi significativamente inferior nos doentes com HCSR-NC (média 12,8 g/dl [6][7][8][9][10][11][12][13][14][15][16][17][18][19][20][21][22]) relativamente aos doentes sem HCSR-NC (média 20,5 g/dl [6-73]) (p < 0,0001). Dois terç os dos doentes com HCSR-NC tiveram valores > 12 g/dl e 3 doentes entre 6-9,6 g/dl, o que demonstra que doentes com HCSR--NC podem não ter secreç ão apropriada de cortisol em situaç ões de stress.…”

Section: Características Clínicas E Perfil Hormonal Basalunclassified

“…dos doentes com HCSR-NC são portadores de mutaç ões que podem condicionar a forma clássica da doenç a13,14 . Estima-se que o risco de um doente com HCSR-NC ter um filho com HCSR forma clássica é de cerca de 1:240 6,13 ; um estudo francês estimou que esse risco será de 2,5% e que o risco de ter um filho com forma não clássica é de 15% 1 , provavelmente devido a consanguinidade em determinadas populaç ões 6 .…”

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Importância da prova de Synacthen no diagnóstico diferencial de pubarca precoce

Santos

Amaral

Limbert

et al. 2016

Revista Portuguesa de Endocrinologia, Diabetes e Metabolismo

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informação sobre o artigo Historial do artigo: Recebido a 26 de agosto de 2014 Aceite a 18 de maio de 2015 On-line a xxx Palavras-chave: Hiperplasia congénita da suprarrenal, forma não clássica Pubarca precoce Tetracosactido Prova de Synacthen r e s u m oIntroduç ão: Nos doentes com pubarca precoce, o gold-standard para o diagnóstico diferencial entre pubarca precoce idiopática (PPI) e a forma não clássica da hiperplasia congénita da suprarrenal (HCSR--NC) é a prova de Synacthen. Esta permite também estimar a reserva adrenal de cortisol nos doentes com HCSR-NC. Objetivos: Comparar as características clínicas e perfil hormonal basal dos doentes com pubarca precoce; avaliar a importância da prova de Synacthen no diagnóstico diferencial entre PPI e HCSR-NC e na determinaç ão da reserva adrenal de cortisol. Material e métodos: Estudo transversal de doentes com pubarca precoce que realizaram prova de Synacthen. Resultados: Foram incluídos 43 doentes, com idade mediana de 7,5 anos (3,5-9,4), sendo 37 (86,0%) do sexo feminino. Na prova de Synacthen, 37 (86,0%) foram classificados como PPI e 6 (14,0%) como HCSR-NC. Não houve diferenç as significativas entre os 2 grupos quanto às características clínicas e doseamentos basais de ACTH, cortisol e androgénios da suprarrenal. A 17-OHP basal e estimulada foi mais elevada nos doentes com HCSR-NC (p = 0,001 e p < 0,001, respetivamente) (basal: 4,62 ± 3,70 ng/ml [0,80-10,50]; estimulada: 35,41 ± 24,87 ng/ml [12,0-80,2]) do que nos doentes com PPI (basal: 1,04 ± 0,77 ng/ml [0,22-3,80]; estimulada: 4,18 ± 1,71 ng/ml [1,0-8,96]). O cut-off basal habitualmente proposto (< 2,0 ng/ml) para a distinç ão entre estes grupos não o permitiu em 2 doentes, que apenas foram diagnosticados após realizaç ão da prova de Synacthen. Dois doentes com HCSR-NC (33,3%) tiveram cortisol após estimulaç ão < 18 g/dl, revelando necessidade de tratamento com glucocorticoide em stress. Os doentes com HCSR--NC com valores mais elevados de 17-OHP basal tiveram valores de cortisol mais baixos após estimulaç ão (p = 0,004; r = -0,43). Conclusão: A realizaç ão desta prova foi útil para distinguir os doentes com HCSR-NC e PPI, pois nenhum valor de 17-OHP basal permitia fazer o diagnóstico diferencial definitivo. Em alguns doentes com HCSR-NC a prova revelou secreç ão inapropriada de cortisol em stress, contribuindo para a decisão terapêutica. a b s t r a c tIntroduction: In patients with precocious pubarche (PP), the gold standard for the differential diagnosis between idiopathic PP (IPP) and nonclassical congenital adrenal hyperplasia (NCCAH) is the ACTH stimulation test (ST); this test also estimates the adrenal cortisol reserve in NCCAH patients. Objectives: To compare the clinical characteristics and baseline hormonal profile of patients with PP; to determine the importance of ST in the differential diagnosis between IPP and NCCAH and in the evaluation of the adrenal production of cortisol. Methods: Cross-sectonal study of patients with PP who underwent ST.

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Section: Importância Do Diagnóstico Diferencial Na Pubarca Precoceunclassified

Section: Características Clínicas E Perfil Hormonal Basalunclassified

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Importância da prova de Synacthen no diagnóstico diferencial de pubarca precoce

Santos

Amaral

Limbert

et al. 2016

Revista Portuguesa de Endocrinologia, Diabetes e Metabolismo

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“…The recommended hydrocortisone dose in growing children is 10–15 mg/m 2 /day 1. Although prenatal and postnatal glucocorticoid treatment aims to decrease production of sex hormones, the adverse effects of exposure to elevated adrenal androgens are still evident despite adequate monitoring and patient compliance 2.…”

Section: Introductionmentioning

confidence: 99%

Executive Functioning in Children with Congenital Adrenal Hyperplasia

Agoston

Gonzalez-Bolanos

Semrud‐Clikeman

et al. 2017

Journal of Investigative Medicine

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Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a disorder characterized by impaired cortisol synthesis leading to excessive production of adrenal androgens. Prenatal and postnatal exposure to excess androgens may increase neural vulnerability to insult and affect cognitive functions, particularly dopamine-dependent neural circuits responsible for executive functioning (EF). Our study aimed to investigate relationship between more pronounced androgen exposure and EF-related behaviors in children with CAH, as well as sex differences in these associations. Parents of patients with CAH (n=41, boys=17, girls=24; age: M=8.41, SD=4.43) completed the Behavior Rating Inventory of Executive Function (BRIEF), a measure assessing behavioral manifestations of EF. Assessments of bone age advancement, a proxy of cumulative androgen exposure, were analyzed. Advanced bone age predicted more inhibition difficulties in boys but not in girls, and more difficulties in all other BRIEF domains in the total sample. Excessive androgen production affected EF such that more advanced bone age led to more EF-related difficulties. Sex differences in inhibition may result from estrogen exposure moderating the impact of androgens in girls but not in boys. Future interventions may include targeting EF in patients with CAH to enhance quality of life and reduce cognitive consequences associated with this disease.

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Assessment of Facial Morphologic Features in Patients With Congenital Adrenal Hyperplasia Using Deep Learning

et al. 2020

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IMPORTANCECongenital adrenal hyperplasia (CAH) is the most common primary adrenal insufficiency in children, involving excess androgens secondary to disrupted steroidogenesis as early as the seventh gestational week of life. Although structural brain abnormalities are seen in CAH, little is known about facial morphology. OBJECTIVE To investigate differences in facial morphologic features between patients with CAH and control individuals with use of machine learning. DESIGN, SETTING, AND PARTICIPANTS This cross-sectional study was performed at a pediatric tertiary center in Southern California, from November 2017 to December 2019. Patients younger than 30 years with a biochemical diagnosis of classical CAH due to 21-hydroxylase deficiency and otherwise healthy controls were recruited from the clinic, and face images were acquired. Additional controls were selected from public face image data sets. MAIN OUTCOMES AND MEASURES The main outcome was prediction of CAH, as performed by machine learning (linear discriminant analysis, random forests, deep neural networks). Handcrafted features and learned representations were studied for CAH score prediction, and deformation analysis of facial landmarks and regionwise analyses were performed. A 6-fold cross-validation strategy was used to avoid overfitting and bias. RESULTS The study included 102 patients with CAH (62 [60.8%] female; mean [SD] age, 11.6 [7.1] years) and 59 controls (30 [50.8%] female; mean [SD] age, 9.0 [5.2] years) from the clinic and 85 controls (48 [60%] female; age, <29 years) from face databases. With use of deep neural networks,a mean (SD) AUC of 92% (3%) was found for accurately predicting CAH over 6 folds. With use of classical machine learning and handcrafted facial features, mean (SD) AUCs of 86% (5%) in linear discriminant analysis and 83% (3%) in random forests were obtained for predicting CAH over 6 folds.There was a deviation of facial features between groups using deformation fields generated from facial landmark templates. Regionwise analysis and class activation maps (deep learning of regions) revealed that the nose and upper face were most contributory (mean [SD] AUC: 69% [17%] and 71%[13%], respectively). CONCLUSIONS AND RELEVANCEThe findings suggest that facial morphologic features in patients with CAH is distinct and that deep learning can discover subtle facial features to predict CAH.Longitudinal study of facial morphology as a phenotypic biomarker may help expand understanding of adverse lifespan outcomes for patients with CAH.

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Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society* Clinical Practice Guideline

Cited by 863 publications

References 400 publications

Importância da prova de Synacthen no diagnóstico diferencial de pubarca precoce

Importância da prova de Synacthen no diagnóstico diferencial de pubarca precoce

Executive Functioning in Children with Congenital Adrenal Hyperplasia

Assessment of Facial Morphologic Features in Patients With Congenital Adrenal Hyperplasia Using Deep Learning

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