Cognitive function of children and adolescents with congenital adrenal hyperplasia: Importance of early diagnosis

2020 ◽  
Author(s):  
Messina V ◽  
Karlsson L ◽  
Hirvikoski T ◽  
Nordenstrom A ◽  
Lajic S
Keyword(s):  
Cognitive Function ◽  
Early Diagnosis ◽  
Congenital Adrenal Hyperplasia ◽  
Children And Adolescents ◽  
Adrenal Hyperplasia

scholarly journals Cognitive Function of Children and Adolescents With Congenital Adrenal Hyperplasia: Importance of Early Diagnosis

2020 ◽  
Vol 105 (3) ◽  
pp. e683-e691 ◽  
Author(s):  
Valeria Messina ◽  
Leif Karlsson ◽  
Tatja Hirvikoski ◽  
Anna Nordenström ◽  
Svetlana Lajic
Keyword(s):  
Early Diagnosis ◽  
Executive Functions ◽  
Congenital Adrenal Hyperplasia ◽  
Children And Adolescents ◽  
Replacement Therapy ◽  
Neonatal Screening ◽  
Screening Program ◽  
Intellectual Ability ◽  
Adrenal Hyperplasia ◽  
Population Controls

Abstract Context Patients with classic congenital adrenal hyperplasia (CAH) are treated postnatally with lifelong glucocorticoid (GC) replacement therapy. Previous results on general cognitive ability in individuals with CAH have been conflicting. Objective To evaluate long-term cognitive effects of GC replacement therapy and the impact of early diagnosis in children with CAH. Design and Setting Observational study with patients from a single research institute. Patients 32 children with CAH (mean age 11.5 years) identified through the Swedish national neonatal screening program for CAH and 52 matched population controls (mean age 10.7 years). Eleven (6 female) children with CAH who were treated prenatally with dexamethasone (DEX), (CAH-DEX) (mean age 11.7 years). Intervention GC replacement therapy, neonatal screening for CAH. Measures Cognitive abilities assessed with standardized neuropsychological tests (Wechsler scales, Span Board Test, Stroop Interference Test, NEPSY list learning). Results Children with CAH (not prenatally treated) performed equally well as population controls on a series of tests assessing general intellectual ability and executive functions. No significant differences were observed in cognitive performance between patients with different genotypes (null, non-null). Patients with salt-wasting CAH performed poorer than patients with simple virilizing CAH in a test assessing visuo-spatial working memory (P = 0.039), although the performance was within the normal range for the population. Prenatally DEX-treated girls with CAH had lower verbal intellectual ability compared with CAH girls not exposed to prenatal treatment (P = 0.037). Conclusion Children and adolescents with CAH who were diagnosed early via a neonatal screening program and treated with hydrocortisone had normal psychometric intelligence and executive functions.

Assessment of health-related quality of life in Egyptian children and adolescents with congenital adrenal hyperplasia

2020 ◽  
Vol 33 (2) ◽  
pp. 295-304
Author(s):  
Noha Musa ◽  
Noha Asem ◽  
Shaza Basyony ◽  
Lubna Fawaz
Keyword(s):  
Quality Of Life ◽  
Congenital Adrenal Hyperplasia ◽  
Children And Adolescents ◽  
Hospital Admissions ◽  
Hormonal Control ◽  
Physical Domain ◽  
Adrenal Hyperplasia ◽  
Egyptian Children ◽  
Health Related

AbstractBackgroundCongenital adrenal hyperplasia (CAH) is a chronic disorder causing adrenal insufficiency and hyperandrogenism affecting the quality of life (QOL). The objective of the study was to assess the health-related QOL (HRQOL) in Egyptian children and adolescents with CAH and to identify factors affecting it.MethodsThis cross-sectional study included 200 CAH patients (with 21-hydroxylase deficiency [21-OHD]) who were assessed according to their age, sex, clinical phenotype, timing of genitoplasty, hospital admissions within the last year, compliance to treatment, regularity of follow-up, presence of complications and hormonal control. HRQOL was assessed using the World Health Organization (WHO)QOL-BREF questionnaire with four domains analyzed independently including physical, psychological, social and environmental domains, with higher scores indicating better QOL.ResultsThe study included 140 females and 60 males with a mean age of 6.6 ± 4.5 years, and 88% were salt-wasting (SW). Older patients had significantly lower QOL scores (r = − 0.151, p = 0.033). The physical domain correlated significantly with the degree of virilization (r = − 0.491, p = 0.001) and frequency of hospitalization (r = − 0.495, p < 0.001). The psychological domain was affected by age (r = − 0.157, p = 0.026) and timing of genitoplasty (r = − 0.326, p = 0.001), while the social domain was affected by age (r = −0.277, p < 0.005) and pubertal stage (r = − 0.195, p = 0.006). Females had lower scores at the psychological domain (p < 0.001), whereas males had lower scores at the physical domain (p = 0.003). Salt-losing patients had lower scores at the physical domain (p = 0.001). Patients with good hormonal control had higher scores at the physical domain (p = 0.03). Genitoplasty affected both psychological and social domains (p = 0.003 and 0.01, respectively). Patients with hypertension and hirsutism had lower QOL scores (p < 0.05).ConclusionsHRQOL was relatively more affected in CAH patients with older age, poor hormonal control, high frequency of hospital admissions and those who developed complications.

EARLY DIAGNOSIS OF CONGENITAL ADRENAL HYPERPLASIA

The Lancet ◽  
1977 ◽  
Vol 309 (8009) ◽  
pp. 487 ◽  
Author(s):  
IeuanA. Hughes ◽  
D.H. Williams ◽  
A.D. Birch
Keyword(s):  
Early Diagnosis ◽  
Congenital Adrenal Hyperplasia ◽  
Adrenal Hyperplasia

Cortisol response to adrenocorticotropin testing in non-classical congenital adrenal hyperplasia (NCCAH)

2016 ◽  
Vol 29 (12) ◽  
Author(s):  
Fotini-Heleni Karachaliou ◽  
Maria Kafetzi ◽  
Maria Dracopoulou ◽  
Elpis Vlachopapadopoulou ◽  
Sofia Leka ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Children And Adolescents ◽  
Control Group ◽  
Cortisol Response ◽  
Adrenal Hyperplasia ◽  
Acth Stimulation Test ◽  
Acth Stimulation ◽  
Baseline Cortisol ◽  
Discontinuation Of Treatment ◽  
And Control

Abstract Background: The adequacy of cortisol response in non-classical congenital adrenal hyperplasia (NCCAH) has not been fully elucidated. The aim was to evaluate cortisol response to adrenocorticotropin (ACTH) stimulation test in children and adolescents with NCCAH and heterozygotes for Methods: One hundred and forty-six children and adolescents, mean age 7.9 (0.7–17.5) years with clinical hyperandrogenism, were evaluated retrospectively. Thirty-one subjects had NCCAH, 30 were heterozygotes for Results: Baseline cortisol levels did not differ among NCCAH, heterozygotes, and normal responders: 15.75 (5.83–59.6) μg/dL vs. 14.67 (5.43–40.89) μg/dL vs. 14.04 (2.97–34.8) μg/dL, p=0.721. However, NCCAH patients had lower peak cortisol compared to heterozygotes and control group: 28.34 (12.25–84.40) vs. 35.22 (17.47–52.37) μg/dL vs. 34.92 (19.91–46.68) μg/dL, respectively, p=0.000. Peak cortisol was <18 μg/dL in 7/31 NCCAH patients and in one heterozygote. Conclusions: A percentage of 21.2% NCCAH patients showed inadequate cortisol response to ACTH stimulation. In these subjects, the discontinuation of treatment on completion of growth deserves consideration.

scholarly journals Establishment of Clinical and Lab Algorithms for the Identification of Carriers of Mutations in CYP21A2 – A Study of 365 Children and Adolescents

2020 ◽  
Author(s):  
J. Meinel ◽  
T. Haverkamp ◽  
F. Wünsche ◽  
A. Richter-Unruh
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Children And Adolescents ◽  
Area Under The Curve ◽  
Bone Age ◽  
Adrenal Hyperplasia ◽  
Operating Characteristics ◽  
Study Objective ◽  
Combined Test ◽  
The Difference ◽  
17 Hydroxyprogesterone

Abstract Background Mutations of CYP21A2 encoding 21-hydroxylase are the most frequent cause of congenital adrenal hyperplasia (CAH) and are associated either with elevated basal or ACTH-stimulated levels of 17-hydroxyprogesterone (17OHP) in blood. Objective The study objective was to identify the most suitable of 12 different test algorithms and appropriate cut-off levels for that test to recognize patients with non-classical congenital adrenal hyperplasia (NCCAH) and carriers of clinically relevant mutations in CYP21A2. Method and Patients Between July 2006 and July 2015 ACTH-tests were conducted in 365 children and adolescents (Age 1–20 y) suspected to have NCCAH. As a reference, results from subsequent gene sequencing of CYP21A2 was used. Inclusion criteria that were used were premature pubarche with accelerated bone age, hyperandrogenism, hirsutism, or menstrual irregularities. Receiver operating characteristics (ROC) were plotted. Evaluated test algorithms were composed around 17OHP measurements by radioimmunoassays. The most suitable test was identified by the greatest area under the curve (AUC). Results Among the 12 tested algorithms, the sum of 30 min and 60 min stimulated 17OHP values (sum17OHPstim) showed the highest AUC of 0.774 for identifying heterozygous and bi-allelic mutations. A cut-off of 10.1 μg/l was advisable. Bi-allelic mutations only were best identified calculating the difference between 30 min and basal 17OHP values (Δ17OHP30). A cut-off of 9.4 μg/l was most effective. Conclusion Alternatively to the above mentioned cut-offs the difference of 60 min after stimulation to basal 17OHP (Δ17OHP60) can be used for the benefit of a combined test to identify both heterozygotes and bi-allelic patients. There are minimal decreases in sensitivity and specificity compared to an approach that applies two tests. However, it denotes a simpler approach in the clinical routine.

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