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Journal of Pediatric Health Care :... 2017Congenital adrenal hyperplasia (CAH) is an endocrine condition that requires parents to administer steroids up to three times daily, supplementing maintenance doses with... (Review)
Review
Congenital adrenal hyperplasia (CAH) is an endocrine condition that requires parents to administer steroids up to three times daily, supplementing maintenance doses with oral or injectable doses during times of illness. The purpose of this integrative review was to explore the management, care, and associated health issues for children with CAH and the family response to the condition. Four literature indexes were searched, with 39 articles included. Four themes emerged: (a) Health- and Development-Related Issues, (a) Effects of Excess Androgens, (c) Life Experience of CAH, and (d) Managing and Averting Adrenal Crisis. Families having a child with CAH face complex concerns related their child's growth, the fear of adrenal crisis events, and the consequences of atypical genitalia for affected girls. Future studies should focus on interventions that provide guidelines to increase parental preparedness in managing adrenal crises and creating support systems for affected girls.
Topics: Adrenal Hyperplasia, Congenital; Child; Child Health; Female; Health Knowledge, Attitudes, Practice; Humans; Male; Parents; Patient Care Management; Patient Education as Topic; Practice Guidelines as Topic; Quality of Life; Steroids
PubMed: 28416079
DOI: 10.1016/j.pedhc.2017.02.004 -
Indian Pediatrics Feb 2020Treatment of congenital adrenal hyperplasia (CAH) requires lifelong replacement of glucocorticoids with regular follow up to manage associated morbidities. The current... (Review)
Review
Treatment of congenital adrenal hyperplasia (CAH) requires lifelong replacement of glucocorticoids with regular follow up to manage associated morbidities. The current review focuses on follow-up and management of infants diagnosed with classical CAH pertinent to Indian context. Early initiation of oral hydrocortisone in divided doses is recommended after diagnosis in newborn period, infancy and childhood. Fludrocortisone is recommended for all infants with classical CAH. All infants should be monitored as per protocol for disease and treatment related complications. The role of prenatal steroids to pregnant women with previous history of CAH affected infant for prevention of virilization of female fetus is controversial.
Topics: Administration, Oral; Adrenal Hyperplasia, Congenital; Female; Glucocorticoids; Humans; India; Infant; Male; Mineralocorticoids; Pregnancy; Prenatal Exposure Delayed Effects; Steroids
PubMed: 32060243
DOI: No ID Found -
Journal of Child Neurology Aug 2022Congenital adrenal hyperplasia (CAH) is a group of genetic disorders that affects the adrenal glands and is the most common cause of primary adrenal insufficiency in...
BACKGROUND
Congenital adrenal hyperplasia (CAH) is a group of genetic disorders that affects the adrenal glands and is the most common cause of primary adrenal insufficiency in children. In the past few decades, magnetic resonance imaging (MRI) has been implemented to investigate how the brain may be affected by CAH. A systematic review was conducted to evaluate and synthesize the reported evidence of brain findings related to CAH using structural, functional, and diffusion-weighted MRI.
METHODS
We searched bibliographical databases through July 2021 for brain MRI studies in individuals with CAH.
RESULTS
Twenty-eight studies were identified, including 13 case reports or series, 10 studies that recruited and studied CAH patients vs unaffected controls, and 5 studies without a matched control group. Eleven studies used structural MRI to identify structural abnormalities or quantify brain volumes, whereas 3 studies implemented functional MRI to investigate brain activity, and 3 reported diffusion MRI findings to assess white matter microstructure. Some commonly reported findings across studies included cortical atrophy and differences in gray matter volumes, as well as white matter hyperintensities, altered white matter microstructure, and distinct patterns of emotion and reward-related brain activity.
CONCLUSIONS
These findings suggest differences in brain structure and function in patients with CAH. Limitations of these studies highlight the need for CAH neuroimaging studies to incorporate larger sample sizes and follow best study design and MRI analytic practices, as well as clarify potential neurologic effects seen across the lifespan and in relation to clinical and behavioral CAH phenotypes.
Topics: Adrenal Hyperplasia, Congenital; Brain; Diffusion Magnetic Resonance Imaging; Emotions; Humans; Magnetic Resonance Imaging
PubMed: 35746874
DOI: 10.1177/08830738221100886 -
Journal of Endocrinological... Mar 2023Congenital adrenal hyperplasia (CAH) has been associated with adrenal tumors (ATs) but the relationship is still unclear. The aim was to investigate if CAH was more...
PURPOSE
Congenital adrenal hyperplasia (CAH) has been associated with adrenal tumors (ATs) but the relationship is still unclear. The aim was to investigate if CAH was more common in patients with adrenal tumors and their characteristics.
METHODS
Using national registers all patients with an AT diagnosis (cases) and selected matched controls without AT diagnosis were included from 1st January 2005 to 31st December 2019. The patients with a CAH diagnosis were scrutinized in detail.
RESULTS
ATs were diagnosed in 26,573 individuals and in none of 144,124 controls. In 20 patients with ATs and 1 control, a CAH diagnosis was present. The odds for having CAH in patients with ATs was 109 (95% CI 15-809; P < 0.0001). Among cases, 5 had a CAH diagnosis before the discovery of ATs and 15 afterwards. Half were females and two had been screened for CAH neonatally. The mean age when the ATs was discovered was 55.6 years. Adrenalectomy was performed in seven patients. Five patients had unilateral adrenalectomy before the CAH diagnosis and did not have any glucocorticoid protection. After the CAH diagnosis, 15 were initiated on glucocorticoids and 6 on mineralocorticoids. The majority diagnosed with CAH before index date had classic CAH. In individual diagnosed after index date, only three had classic CAH. The rest had nonclassical CAH. During the follow-up time of 9 years, six deceased, two of them in an adrenal crisis.
CONCLUSIONS
The prevalence of CAH was greater in patients with ATs than in patients without. In all patients with ATs, CAH should be considered.
Topics: Female; Humans; Middle Aged; Male; Adrenal Hyperplasia, Congenital; Case-Control Studies; Glucocorticoids; Adrenalectomy; Adrenal Gland Neoplasms
PubMed: 36269558
DOI: 10.1007/s40618-022-01933-0 -
Journal of Clinical Research in... Nov 2023Congenital adrenal hyperplasia (CAH) is an inherited condition in which individuals require multiple daily doses of medication and are at risk for life-threatening...
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.
Topics: Adolescent; Child; Humans; Female; Male; Adrenal Hyperplasia, Congenital; Depression; Cross-Sectional Studies; Anxiety
PubMed: 37470306
DOI: 10.4274/jcrpe.galenos.2023.2023-2-10 -
Frontiers in Endocrinology 202321-hydroxylase deficiency (21OHD) is the most common cause of congenital adrenal hyperplasia (CAH). However, patients with 21OHD manifest various phenotypes due to a...
INTRODUCTION
21-hydroxylase deficiency (21OHD) is the most common cause of congenital adrenal hyperplasia (CAH). However, patients with 21OHD manifest various phenotypes due to a wide-spectrum residual enzyme activity of different CYP21A2 mutations.
METHODS
A total of 15 individuals from three unrelated families were included in this study. Target Capture-Based Deep Sequencing and Restriction Fragment Length Polymorphism was conducted on peripheral blood DNA of the three probands to identify potential mutations/deletions in CYP21A2; Sanger sequencing was conducted with the DNA from the family members of the probands.
RESULTS
Dramatically different phenotypes were seen in the three probands of CAH with different compound heterozygous mutations in CYP21A2. Proband 1 manifested simple virilizing with mutations of 30-kb deletion/c.[188A>T;518T>A], the latter is a novel double mutants classified as SV associated mutation. Although both probands carry the same compound mutations [293-13C>G]:[518T>A], gonadal dysfunction and giant bilateral adrenal myelolipoma were diagnosed for proband 2 and proband 3, respectively.
CONCLUSION
Both gender and mutations contribute to the phenotypes, and patients with the same compound mutations and gender could present with different phenotypes. Genetic analysis could help the etiologic diagnosis, especially for atypical 21OHD patients.
Topics: Humans; Adrenal Hyperplasia, Congenital; Steroid 21-Hydroxylase; Genotype; Genetic Association Studies
PubMed: 36992809
DOI: 10.3389/fendo.2023.1095719 -
Fertility and Sterility Jan 2019Nonclassical congenital adrenal hyperplasia (NC-CAH) is by far a subtler and milder enzymatic defect to the classical form of the disease. A nuanced understanding of... (Review)
Review
Nonclassical congenital adrenal hyperplasia (NC-CAH) is by far a subtler and milder enzymatic defect to the classical form of the disease. A nuanced understanding of NC-CAH will lead to increased detection of the disorder in those initially misdiagnosed as having polycystic ovary syndrome, will assist in the detection of pregnancies at risk for severe genetic steroid disorders, and will facilitate appropriate ovulation induction and reduction in the hyperandrogenic symptoms which are a cornerstone of the disease. We describe the history of the disease as well as elucidate the pathophysiology, diagnosis, and treatment of the disorder.
Topics: Adrenal Hyperplasia, Congenital; Female; Fertility; Humans; Male; Steroid 21-Hydroxylase
PubMed: 30611403
DOI: 10.1016/j.fertnstert.2018.11.023 -
Journal of Clinical Research in... Nov 2023Patients with congenital adrenal hyperplasia (CAH) require lifelong therapy with glucocorticoids to suppress androgen excess and substitute for deficient cortisol. An... (Observational Study)
Observational Study
OBJECTIVE
Patients with congenital adrenal hyperplasia (CAH) require lifelong therapy with glucocorticoids to suppress androgen excess and substitute for deficient cortisol. An important aspect of care is the prevention of metabolic sequelae. In infants, potentially lethal nocturnal hypoglycaemia has been described. In adolescence, visceral obesity, hypertension, hyperinsulinism and insulin resistance are reported. To date, systematic studies of glucose profiles in this age group with CAH are lacking.
METHODS
This was a monocentric, prospective, observational study to determine the glucose profiles under different treatment regimens in a cohort of young patients with CAH. The continuous glucose monitoring device used was the latest generation FreeStyle Libre 3 sensor in blinded mode. Therapeutic and auxological data were obtained.
RESULTS
The cohort consisted of 10 children/adolescents with a mean age of 11 years. Three patients exhibited morning fasting hyperglycaemia. Overall, 6 out of 10 patients had unacceptably few total values in the desired range of 70-120 mg/dL. Tissue glucose values above 140-180 mg/dL were found in 5 of 10 patients. The mean value for glycosylated haemoglobin for the cohort was of 5.8%. All pubertal adolescents with reverse circadian regimens had significantly higher glucose levels at night. Two adolescents showed asymptomatic nocturnal hypoglycaemia.
CONCLUSION
Most of the patients exhibited abnormalities in glucose metabolism. Two-thirds had elevated total 24h glucose values outside the age-appropriate reference values. Thus, this aspect may need to be addressed early in life by adjusting the doses, treatment regimen or dietary measures. Consequently, reverse circadian therapy regimens should be critically indicated and closely monitored due to the potential metabolic risk.
Topics: Infant; Humans; Child; Adolescent; Adrenal Hyperplasia, Congenital; Blood Glucose; Prospective Studies; Blood Glucose Self-Monitoring; Hydrocortisone; Hypoglycemia; Glucose
PubMed: 37218136
DOI: 10.4274/jcrpe.galenos.2023.2023-3-5 -
Best Practice & Research. Clinical... Apr 2009Congenital adrenal hyperplasia (CAH) is one of the most common inherited metabolic disorders. It comprises a group of autosomal recessive disorders caused by the... (Review)
Review
Congenital adrenal hyperplasia (CAH) is one of the most common inherited metabolic disorders. It comprises a group of autosomal recessive disorders caused by the deficiency of one of four steroidogenic enzymes involved in cortisol biosynthesis or in the electron donor enzyme P450 oxidoreductase (POR) that serves as electron donor to steroidogenic cytochrome P450 (CYP) type II enzymes. The biochemical and clinical phenotype depends on the specific enzymatic defect and the impairment of specific enzyme activity. Defects of steroid 21-hydroxylase (CYP21A2) and 11beta-hydroxylase (CYP11B1) only affect adrenal steroidogenesis, whereas 17alpha-hydroxylase (CYP17A1) and 3beta-hydroxysteroid dehydrogenase type 2 (HSD3B2) deficiency also impact on gonadal steroid biosynthesis. Inactivating POR gene mutations are the cause of CAH manifesting with apparent combined CYP17A1-CYP21A2 deficiency. P450 oxidoreductase deficiency (ORD) has a complex phenotype including two unique features not observed in any other CAH variant: skeletal malformations and severe genital ambiguity in both sexes.
Topics: Adrenal Hyperplasia, Congenital; Animals; Genetic Testing; Humans; Mutation; NADPH-Ferrihemoprotein Reductase; Progesterone Reductase; Steroid 11-beta-Hydroxylase; Steroid 17-alpha-Hydroxylase; Steroid 21-Hydroxylase
PubMed: 19500762
DOI: 10.1016/j.beem.2008.10.014 -
Hormone Research in Paediatrics 2019Congenital adrenal hyperplasia (CAH) due to steroid 21-hydroxylase deficiency (21OHD) has a worldwide incidence of 1 in 15-20,000. Affected individuals have adrenal... (Review)
Review
Congenital adrenal hyperplasia (CAH) due to steroid 21-hydroxylase deficiency (21OHD) has a worldwide incidence of 1 in 15-20,000. Affected individuals have adrenal insufficiency and androgen excess; the androgen excess begins during fetal life, typically resulting in 46,XX disordered sexual development. In 21OHD, 17-hydroxyprogesterone (17OHP), the steroid proximal to 21-hydroxylase, accumulates. Most industrialized countries have newborn screening programs that measure 17OHP; such screening has permitted rapid detection of newborns with 21OHD, saving lives previously lost to mineralocorticoid deficiency and salt wasting. However, newborn screening is plagued by false positives. 17OHP is above most "cutoff values" in the first 24 h of life, is high in otherwise normal premature infants, and in many term infants with physiologic stress from unrelated diseases. In addition, newborn 17OHP may be elevated in other forms of CAH, including 11-hydroxylase deficiency, 3β-hydroxysteroid dehydrogenase deficiency, and P450 oxidoreductase deficiency. In 21OHD, some of the accumulated intra-adrenal 17OHP is converted to 21-deoxycortisol (21-deoxy) by 11β-hydroxylase (CYP11B1); 21-deoxy is not elevated in premature infants or in other forms of CAH, and hence is a more specific marker for 21OHD. However, 21-deoxy assays have not been generally available until recently, hence experience is limited. We urge clinical investigators, commercial reference laboratories, and newborn screening programs to investigate replacing 17OHP with 21-deoxy as the analyte of choice for studies of 21OHD.
Topics: 17-alpha-Hydroxyprogesterone; Adrenal Hyperplasia, Congenital; Cortodoxone; Female; Humans; Infant; Infant, Newborn; Male; Neonatal Screening
PubMed: 31450227
DOI: 10.1159/000501396