Psychological vulnerability to stress in carriers of congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Kyritsi, Eleni Magdalini; Koltsida, Georgia; Farakla, Ioanna; Papanikolaou, Athanasios; Critselis, Elena; Mantzou, Emily; Zoumakis, Emmanouil; Kolaitis, Gerasimos; Chrousos, George P.; Charmandari, Evangelia

doi:10.14310/horm.2002.1718

Cited by 7 publications

(4 citation statements)

References 42 publications

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“…We therefore did not find a statistical difference between the parents of children with CAH and HT. Previous studies have suggested that carriers of CAH may have psychological vulnerability to stress ( 15 , 16 ). None of our parent participants were carriers of CAH.…”

Section: Discussionmentioning

confidence: 99%

Screening for Anxiety and Depression in Children with Congenital Adrenal Hyperplasia

Jacob

Lin‐Su

Catarozoli

et al. 2023

Jcrpe

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Objective: Congenital adrenal hyperplasia (CAH) is an inherited condition in which individuals require multiple daily doses of medication and are at risk for life-threatening adrenal crisis. The chronic nature and severity of CAH place children at risk for psychiatric morbidity. The aim was to assess the degree of anxiety and depressive symptoms in children with CAH. Methods: A cross-sectional cohort study of children (7-17 years) with CAH and their caregivers were recruited between May and December 2021. Children with hypothyroidism (HT) and their caregivers served as unaffected controls. Validated mental health questionnaires [Children’s Depression Inventory 2 Self Report-Short (CDI-2), Screen for Child Anxiety Related Disorders (SCARED), Patient Health Questionnaire modified for Adolescents (PHQ-A); self and proxy] were completed by participants at one clinic visit. Higher scores indicated greater symptoms of anxiety and depression. Results: A total of 60 children and 56 parents participated. Among the children 34 had CAH (68% female, mean age 11.41±2.5, CAH duration 8.5±4.1) and 26 had HT (73% female, mean age 12.7±2.9 years, HT duration 6.0±4.2 years). There was no increase in anxiety and depression symptoms in children with CAH compared to controls. In sub-analyses, children with CAH and controls reported a greater number of anxiety and depression symptoms than their caregivers on the SCARED and CDI-2, respectively. There was no association between adrenal control and the degree of anxiety or depression symptoms. Conclusion: Children with CAH do not have more symptoms of anxiety or depression compared to controls. Child and caregiver-proxy responses lack agreement, suggesting that children with CAH may continue to benefit from routine mental health evaluation, regardless of voiced caregiver concern.

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Section: Discussionmentioning

confidence: 99%

Screening for Anxiety and Depression in Children with Congenital Adrenal Hyperplasia

Jacob

Lin‐Su

Catarozoli

et al. 2023

Jcrpe

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“…Of note, in congenital adrenal hyperplasia due to 21-hydroxylase deficiency, cortisol precursors are increasingly secreted with ACTH stimulation, indicating impaired cortisol production and compensating increased hypothalamic CRH secretion. In a study, carriers of 21-hydroxylase deficiency (i.e., parents of children with classical congenital adrenal hyperplasia) showed significantly higher state-anxiety scores than healthy subjects, and their mean 24 h urinary free cortisol excretion was significantly associated with psychoticism and paranoid ideation, thereby making them susceptible to anxiety disorders [ 54 ].…”

Section: Stress Depressive Symptoms T2d and Our Hypothesismentioning

confidence: 99%

Stress and the CRH System, Norepinephrine, Depression, and Type 2 Diabetes

Perrelli,

Goparaju,

Postolache

et al. 2024

Biomedicines

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Major depressive disorder (MDD) increases the risk of type 2 diabetes (T2D) by 60% in untreated patients, and hypercortisolism is common in MDD as well as in some patients with T2D. Patients with MDD, despite hypercortisolism, show inappropriately normal levels of corticotropin-releasing hormone (CRH) and plasma adrenocorticotropin (ACTH) in the cerebrospinal fluid, which might implicate impaired negative feedback. Also, a positive feedback loop of the CRH–norepinephrine (NE)–CRH system may be involved in the hypercortisolism of MDD and T2D. Dysfunctional CRH receptor 1 (CRHR1) and CRH receptor 2 (CRHR2), both of which are involved in glucose regulation, may explain hypercortisolism in MDD and T2D, at least in a subgroup of patients. CRHR1 increases glucose-stimulated insulin secretion. Dysfunctional CRHR1 variants can cause hypercortisolism, leading to serotonin dysfunction and depression, which can contribute to hyperglycemia, insulin resistance, and increased visceral fat, all of which are characteristics of T2D. CRHR2 is implicated in glucose homeostasis through the regulation of insulin secretion and gastrointestinal functions, and it stimulates insulin sensitivity at the muscular level. A few studies show a correlation of the CRHR2 gene with depressive disorders. Based on our own research, we have found a linkage and association (i.e., linkage disequilibrium [LD]) of the genes CRHR1 and CRHR2 with MDD and T2D in families with T2D. The correlation of CRHR1 and CRHR2 with MDD appears stronger than that with T2D, and per our hypothesis, MDD may precede the onset of T2D. According to the findings of our analysis, CRHR1 and CRHR2 variants could modify the response to prolonged chronic stress and contribute to high levels of cortisol, increasing the risk of developing MDD, T2D, and the comorbidity MDD-T2D. We report here the potential links of the CRH system, NE, and their roles in MDD and T2D.

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“…As sexual maturation occurs during adolescence, this is a time during which clinicians can play a major role in supporting development of a healthy body image. Additionally, girls with CAH are at risk for developing an anxiety disorder (Kyritsi et al, 2017). An important aspect of social-emotional management for those with CAH is disclosure of sex development-related information to the child, in order to prepare for changes during puberty and ways in which they may appear differently from other children and adolescents.…”

Section: Social-emotional and Behavioralmentioning

confidence: 99%

Congenital adrenal hyperplasia.

Fairchild,

Preece

2023

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Italian anatomist, Luigi DeCrecchio, who noted enlarged adrenal glands, male-appearing genitals, and an internal female reproductive system in a patient (Texas Department of State Health Services, 2021). Commonly referred to as an invisible illness because many of its symptoms are unnoticeable to the naked eye, CAH is now known to be a collection of inherited disorders that affect the adrenal glands. Although some forms of CAH can be life-threatening if left untreated, lifelong treatments have been developed to address many of the symptoms and allow affected individuals to lead generally healthy and independent lives (Carroll et al., 2020). ETIOLOGYCAH refers to a group of autosomal recessive genetic conditions that affect hormone production in the adrenal glands (Gidlöf et al., 2013). The adrenal glands are responsible for producing corticosteroids, which gauge the body's response to illness or injury; mineralocorticoids, which regulate salt and water levels; and androgens, which are male sex hormones. The most common form of CAH occurs because of mutations in the gene encoding the 21-hydroxylase enzyme. This mutation causes an impairment in the production of cortisol and aldosterone and an excess of androgen (El-Maouche et al., 2017

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Psychological vulnerability to stress in carriers of congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Cited by 7 publications

References 42 publications

Screening for Anxiety and Depression in Children with Congenital Adrenal Hyperplasia

Screening for Anxiety and Depression in Children with Congenital Adrenal Hyperplasia

Stress and the CRH System, Norepinephrine, Depression, and Type 2 Diabetes

Congenital adrenal hyperplasia.

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