Cognitive functions in children with congenital adrenal hyperplasia

Amr, Nermine Hussein; Baioumi, Alaa; Serour, Mohamed Nagy; Khalifa, A.; Shaker, Nermin M.

doi:10.20945/2359-3997000000125

Cited by 10 publications

(5 citation statements)

References 29 publications

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“…Patients with CAH are at risk of some cognitive impairment [ 66 ]; however, the data on cognitive abilities in this population have been controversial [ 66 ]. It was reported that patients with CAH had normal psychometric intelligence but impaired executive functions [ 67 ].…”

Section: Discussionmentioning

confidence: 99%

Characteristics of Congenital Adrenal Hyperplasia Diagnosed in Adulthood: A Literature Review and Case Series

Hubska

Kępczyńska-Nyk

Czady-Jurszewicz

et al. 2023

JCM

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Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders characterized by impaired cortisol synthesis. CAH, depending on its clinical form, is usually diagnosed in the neonatal period, later in childhood, in adolescence, or in young adults. Herein, we report a case series of eight individuals in whom CAH was diagnosed between the ages of 18 and 81 years. Methods: We report on clinical presentations, hormonal tests, adrenal/gonadal imaging, and genetic findings. The clinical data of eight people with CAH, including four women (46, XX) and four men (46, XY), were reviewed. A genetic analysis of the cytochrome P450 family 21 subfamily A member 2 (CYP21A2) gene was performed in six patients. A comprehensive literature review was also conducted. Case series: Partial cortisol deficiency was found in all patients. The most frequent genotype was the homozygotic I173N mutation in CYP21A2. Adrenal masses were detected in seven patients, except for the youngest. Most of the patients were of short stature. Hypogonadotropic hypogonadism was detected in two males, and three females presented with primary amenorrhea. Hirsutism was noticeable in three females. All of the patients developed insulin resistance, and half of them were obese. Conclusions: The clinical presentations of different forms of CAH overlapped. Genotype–phenotype correlations were strong but not absolute. The management of CAH should be individualized and based on clinical and laboratory findings. Furthermore, the assessment of the cortisol response to adrenocorticotrophic hormone stimulation should be mandatory in all adults with CAH. Additionally, the regular long-term screening of cardiometabolic status is required in the CAH population.

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Section: Discussionmentioning

confidence: 99%

Characteristics of Congenital Adrenal Hyperplasia Diagnosed in Adulthood: A Literature Review and Case Series

Hubska

Kępczyńska-Nyk

Czady-Jurszewicz

et al. 2023

JCM

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“…Children and adolescents with CAH are at risk of adrenal crisis with salt loss and hypoglycemia that may negatively impact cognitive performance (Hamed et al, 2018 ). As so, some studies have highlighted the need to assess cognitive functions in children and adolescents with CAH (Amr et al, 2019 ; Hamed et al, 2018 ). However, a newly published study of children and adolescents diagnosed through the neonatal screening program for CAH in Sweden showed normal cognitive abilities (Valeria Messina et al, 2020 ).…”

Section: Discussionmentioning

confidence: 99%

A 15–20-year follow-up of mental health, psychosocial functioning and quality of life in a single center sample of individuals with differences in sex development

Wæhre

Heggeli

Hald

et al. 2022

Health Psychology and Behavioral Medicine

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Background: The aim of the study was to present metal health, psychosocial functioning and quality of life (QoL) of children and adolescents with a difference in sex development (DSD) from their first visit in the newly established multidisciplinary team in 2002–2004 in Norway. A secondary aim was to explore mental health, psychosocial functioning and QoL in the same cohort patient’s as for today and finally explore any childhood predictors for these outcomes in adulthood. Methods: The first part of the study took place in 2002–2004 in a mixed cohort of children and adolescents born with a DSD in 1982–2002, compared to a healthy comparison group. This part involved semi-structured interviews and self-reported and proxy-reported questionnaires. The second part of the study is a longitudinal study of the same participants 15–20 years later (2018–2020). Results: The participants at baseline of the study consisted of 33 patients; 24 assigned females (congenital adrenal hyperplasia, androgen insensitivity syndrome, gonadal dysgenesis and ovotesticular DSD) and nine assigned males; all with a hypospadias diagnosis. Significant differences were found for behavioral and emotional problems between groups, 46, XX females with significant higher total scores on YSR (49.43 + 24.17, p = .047); 46, XY females (21.00 + 12.04, p = .032); and higher internalizing problems scores (YSR) in 46, XX females (16.57 + 9.74), compared with the 46, XY females (5.60 + 5.32, p = .047). A positive association between QoL of the participants in adulthood and PedsQL’ social function ( r = .657, p = .020) and psychosocial function in childhood ( r = .596, p = .041) was found. Conclusions: In summary, this study demonstrated that adolescents assigned females with DSD might have more psychiatric problems and a poorer degree of psychosocial functioning compared to a healthy comparison group. As we do find an association with these problems in adolescence and later adult QoL, it is of great importance to respond to these behaviors in early life.

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“…PedsQL scores were lower for parents’ assessments compared to their children’s, implying a different perception of the impact of their condition; this indicates a need to actively engage patients and parents in the dialogue with multidisciplinary team professionals. School functioning, the lowest scoring category in the PedsQL, may be explained by reduced cognitive function ( 36 , 37 ) or mental health issues ( 4 ). An early diagnosis associates with better cognitive outcomes ( 38 ), a potential explanation being a reduced risk of hypoglycaemia and adrenal crisis.…”

Section: Discussionmentioning

confidence: 99%

Health status of children and young persons with congenital adrenal hyperplasia in the UK (CAH-UK): a cross-sectional multi-centre study

Bacila

Lawrence

Mahdi

et al. 2022

European Journal of Endocrinology

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Objective. There is limited knowledge on the onset of co-morbidities in congenital adrenal hyperplasia (CAH) during childhood. We aimed to establish the health status of children with CAH in the United Kingdom. Design and Methods. This cross-sectional multi-centre study involved 14 tertiary endocrine UK units, recruiting 101 patients aged 8-18 years with classic 21-hydroxylase deficiency and 83 controls. We analysed demographic, clinical, and metabolic data, as well as psychological questionnaires (Strengths and Difficulties [SDQ], Pediatric Quality of Life [PedsQL]). Results. Patient height SDS in relation to mid-parental-height decreased with age, indicating the discrepancy between height achieved and genetic potential height. Bone age was advanced in 40.5% patients, with a mean difference from the chronological age of 1.8 (±2.3) years. Patients were more frequently overweight (27%) or obese (22%) compared to controls (10.8% and 10.8% respectively, p<0.001). No consistent relationship between glucocorticoid dose and anthropometric measurements or hormonal biomarkers was detected. A small number of patients had raised total cholesterol (3.0%), low HDL (3.0%), raised LDL (7.0%) and triglycerides (5.0%). SDQ scores were within the “high” and “very high” categories of concern for 16.3% of patients. ‘School functioning’ was the lowest PedsQL scoring dimension with a median (IQR) of 70 (55-80), followed by ‘emotional functioning’ with a median of 75 (65-85). Conclusions: Our results show an increased prevalence of problems with growth and weight gain in CAH children and suggest reduced quality of life. This highlights the urgent need to optimise management and monitoring strategies to improve long-term health outcomes.

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Cognitive functions in children with congenital adrenal hyperplasia

Cited by 10 publications

References 29 publications

Characteristics of Congenital Adrenal Hyperplasia Diagnosed in Adulthood: A Literature Review and Case Series

Characteristics of Congenital Adrenal Hyperplasia Diagnosed in Adulthood: A Literature Review and Case Series

A 15–20-year follow-up of mental health, psychosocial functioning and quality of life in a single center sample of individuals with differences in sex development

Health status of children and young persons with congenital adrenal hyperplasia in the UK (CAH-UK): a cross-sectional multi-centre study

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