collection
https://read.qxmd.com/read/37680029/long-term-health-consequences-of-congenital-adrenal-hyperplasia
#1
REVIEW
Riccardo Pofi, Xiaochen Ji, Nils P Krone, Jeremy W Tomlinson
Congenital adrenal hyperplasia (CAH) caused by 21-hydroxylase deficiency accounts for 95% of all CAH cases and is one of the most common inborn metabolic conditions. The introduction of life-saving glucocorticoid replacement therapy 70 years ago has changed the perception of CAH from a paediatric disorder into a lifelong, chronic condition affecting patients of all age groups. Alongside health problems that can develop during the time of paediatric care, there is an emerging body of evidence suggesting an increased risk of developing co-morbidities during adult life in patients with CAH...
September 7, 2023: Clinical Endocrinology
https://read.qxmd.com/read/37564007/mineralocorticoid-replacement-therapy-in-salt-wasting-congenital-adrenal-hyperplasia
#2
REVIEW
Katharina Lang, Marcus Quinkler, Tina Kienitz
Patients with salt-wasting congenital adrenal hyperplasia (SW-CAH) usually show pronounced impairment of aldosterone secretion and, therefore, also require mineralocorticoid replacement. While a lot of research and discussion focusses on the glucocorticoid therapy in SW-CAH to replace the missing cortisol and to control adrenal androgen excess, very little research is dealing with mineralocorticoid replacement. However, recent data demonstrated an increased cardiovascular risk in adult CAH patients urging to reflect also on the current mineralocorticoid replacement therapy...
August 11, 2023: Clinical Endocrinology
https://read.qxmd.com/read/37608608/biomarkers-in-congenital-adrenal-hyperplasia
#3
REVIEW
Irina-Alexandra Bacila, Neil R Lawrence, Surabhi G Badrinath, Chamila Balagamage, Nils P Krone
Monitoring of hormone replacement therapy represents a major challenge in the management of congenital adrenal hyperplasia (CAH). In the absence of clear guidance and standardised monitoring strategies, there is no consensus among clinicians regarding the relevance of various biochemical markers used in practice, leading to wide variability in their application and interpretation. In this review, we summarise the published evidence on biochemical monitoring of CAH. We discuss temporal variations of the most commonly measured biomarkers throughout the day, the interrelationship between different biomarkers, as well as their relationship with different glucocorticoid and mineralocorticoid treatment regimens and clinical outcomes...
August 22, 2023: Clinical Endocrinology
https://read.qxmd.com/read/37401054/molecular-basis-and-genetic-testing-strategies-for-diagnosing-21-hydroxylase-deficiency-including-cah-x-syndrome
#4
JOURNAL ARTICLE
Ja Hye Kim, Gu-Hwan Kim, Han-Wook Yoo, Jin-Ho Choi
Congenital adrenal hyperplasia (CAH) is a group of autosomally recessive disorders that result from impaired synthesis of glucocorticoid and mineralocorticoid. Most cases (~95%) are caused by mutations in the CYP21A2 gene, which encodes steroid 21-hydroxylase. CAH patients manifest a wide phenotypic spectrum according to their degree of residual enzyme activity. CYP21A2 and its pseudogene (CYP21A1P) are located 30 kb apart in the 6q21.3 region and share approximately 98% of their sequences in the coding region...
June 2023: Annals of Pediatric Endocrinology & Metabolism
https://read.qxmd.com/read/36294476/pregnancy-and-prenatal-management-of-congenital-adrenal-hyperplasia
#5
REVIEW
Gianluca Cera, Pietro Locantore, Roberto Novizio, Ettore Maggio, Vittoria Ramunno, Andrea Corsello, Caterina Policola, Paola Concolino, Rosa Maria Paragliola, Alfredo Pontecorvi
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive diseases that may cause cortisol insufficiency together with other hormonal alterations. The most common form is 21-hydroxylase deficiency, in which the lack of pituitary negative feedback causes an increase in ACTH and adrenal androgens. Classical forms of CAHs can lead to severe adrenal failure and female virilization. To date, the appropriate management of pregnant CAH patients is still debated regarding appropriate maternal therapy modifications during pregnancy and the risks and benefits of prenatal treatment of the fetus...
October 19, 2022: Journal of Clinical Medicine
https://read.qxmd.com/read/36502822/congenital-adrenal-hyperplasia
#6
REVIEW
Matthias K Auer, Anna Nordenström, Svetlana Lajic, Nicole Reisch
Congenital adrenal hyperplasia is a group of autosomal recessive disorders leading to multiple complex hormonal imbalances caused by various enzyme deficiencies in the adrenal steroidogenic pathway. The most common type of congenital adrenal hyperplasia is due to steroid 21-hydroxylase (21-OHase, henceforth 21OH) deficiency. The rare, classic (severe) form caused by 21OH deficiency is characterised by life-threatening adrenal crises and is the most common cause of atypical genitalia in neonates with 46,XX karyotype...
January 21, 2023: Lancet
https://read.qxmd.com/read/36578966/challenges-in-treatment-of-patients-with-non-classic-congenital-adrenal-hyperplasia
#7
REVIEW
Bas P H Adriaansen, Mariska A M Schröder, Paul N Span, Fred C G J Sweep, Antonius E van Herwaarden, Hedi L Claahsen-van der Grinten
Congenital adrenal hyperplasia (CAH) due to 21α-hydroxylase deficiency (21OHD) or 11β-hydroxylase deficiency (11OHD) are congenital conditions with affected adrenal steroidogenesis. Patients with classic 21OHD and 11OHD have a (nearly) complete enzyme deficiency resulting in impaired cortisol synthesis. Elevated precursor steroids are shunted into the unaffected adrenal androgen synthesis pathway leading to elevated adrenal androgen concentrations in these patients. Classic patients are treated with glucocorticoid substitution to compensate for the low cortisol levels and to decrease elevated adrenal androgens levels via negative feedback on the pituitary gland...
2022: Frontiers in Endocrinology
https://read.qxmd.com/read/36407315/clinical-characteristics-of-a-male-child-with-non-classic-lipoid-congenital-adrenal-hyperplasia-and-literature-review
#8
REVIEW
Wenli Lu, Tingting Zhang, Lidan Zhang, Xueqing Wang, Sheng Lv, Junqi Wang, Lei Ye, Yuan Xiao, Zhiya Dong, Wei Wang, Shuoyue Sun, Chuanyin Li, Ronggui Hu, Guang Ning, Xiaoyu Ma
BACKGROUND: Lipoid congenital adrenal hyperplasia (LCAH) is a rare and severe disorder that is caused by mutations in the steroidogenic acute regulatory protein (StAR). Non-classic LCAH is defined as late-onset glucocorticoid deficiency and even complete male external genitalia in 46,XY individuals. However, to date, few cases of non-classic LCAH have been reported. METHODS: It was attempted to describe the clinical characteristics of a male child with complete male external genitalia in terms of age of onset, adrenal function, and biochemical indicators...
2022: Frontiers in Endocrinology
https://read.qxmd.com/read/35928387/clinical-guidelines-for-the-diagnosis-and-treatment-of-21-hydroxylase-deficiency-2021-revision
#9
JOURNAL ARTICLE
Tomohiro Ishii, Kenichi Kashimada, Naoko Amano, Kei Takasawa, Akari Nakamura-Utsunomiya, Shuichi Yatsuga, Tokuo Mukai, Shinobu Ida, Mitsuhisa Isobe, Masaru Fukushi, Hiroyuki Satoh, Kaoru Yoshino, Michio Otsuki, Takuyuki Katabami, Toshihiro Tajima
Congenital adrenal hyperplasia is a category of disorders characterized by impaired adrenocortical steroidogenesis. The most frequent disorder of congenital adrenal hyperplasia is 21-hydroxylase deficiency, which is caused by pathogenic variants of CAY21A2 and is prevalent between 1 in 18,000 and 20,000 in Japan. The clinical guidelines for 21-hydroxylase deficiency in Japan have been revised twice since a diagnostic handbook in Japan was published in 1989. On behalf of the Japanese Society for Pediatric Endocrinology, the Japanese Society for Mass Screening, the Japanese Society for Urology, and the Japan Endocrine Society, the working committee updated the guidelines for the diagnosis and treatment of 21-hydroxylase deficiency published in 2014, based on recent evidence and knowledge related to this disorder...
2022: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://read.qxmd.com/read/35422767/molecular-diagnosis-of-steroid-21-hydroxylase-deficiency-a-practical-approach
#10
REVIEW
María Arriba, Begoña Ezquieta
Adrenal insufficiency in paediatric patients is mostly due to congenital adrenal hyperplasia (CAH), a severe monogenic disease caused by steroid 21-hydroxylase deficiency (21-OHD, encoded by the CYP21A2 gene) in 95% of cases. CYP21A2 genotyping requires careful analyses that guaranty gene-specific PCR, accurate definition of pseudogene-gene chimeras, gene duplications and allele dropout avoidance. A small panel of well-established disease-causing alterations enables a high diagnostic yield in confirming/discarding the disorder not only in symptomatic patients but also in those asymptomatic with borderline/positive results of 17-hydroxyprogesterone...
2022: Frontiers in Endocrinology
https://read.qxmd.com/read/35411073/management-challenges-and-therapeutic-advances-in-congenital-adrenal-hyperplasia
#11
REVIEW
Ashwini Mallappa, Deborah P Merke
Treatment for congenital adrenal hyperplasia (CAH) was introduced in the 1950s following the discovery of the structure and function of adrenocortical hormones. Although major advances in molecular biology have delineated steroidogenic mechanisms and the genetics of CAH, management and treatment of this condition continue to present challenges. Management is complicated by a combination of comorbidities that arise from disease-related hormonal derangements and treatment-related adverse effects. The clinical outcomes of CAH can include life-threatening adrenal crises, altered growth and early puberty, and adverse effects on metabolic, cardiovascular, bone and reproductive health...
June 2022: Nature Reviews. Endocrinology
https://read.qxmd.com/read/35399922/components-of-metabolic-syndrome-in-youth-with-classical-congenital-adrenal-hyperplasia
#12
REVIEW
Mimi S Kim, Nicole R Fraga, Nare Minaeian, Mitchell E Geffner
Classical congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is the most common primary adrenal insufficiency in children, involving cortisol deficiency, hyperandrogenism, and cardiometabolic risk. Prior studies have reported that youth with classical CAH have a higher prevalence of the components of metabolic syndrome: obesity, hypertension, elevated fasting blood glucose, and dyslipidemia. Yet, the incidence of the complete metabolic syndrome itself in children and adolescents with CAH is relatively rare...
2022: Frontiers in Endocrinology
https://read.qxmd.com/read/35350013/twenty-years-of-neonatal-screening-for-congenital-adrenal-hyperplasia-in-north-eastern-italy-role-of-liquid-chromatography-tandem-mass-spectrometry-as-a-second-tier-test
#13
JOURNAL ARTICLE
Paolo Cavarzere, Marta Camilot, Laura Palma, Silvana Lauriola, Rossella Gaudino, Monica Vincenzi, Franco Antoniazzi, Francesca Teofoli, Giorgio Piacentini
BACKGROUND: Newborn screening for congenital adrenal hyperplasia (CAH) based on 17-hydroxyprogesterone (17-OHP) concentration in dried blood spots has been taking place in North-Eastern Italy since 2001. Since 2017, liquid chromatography-tandem mass spectrometry (LC-MS/MS) has been introduced, for the first time in Italy, as a second-tier test. AIMS: Our study aims to evaluate, on the one hand, the effectiveness of the newborn screening for CAH after 20 years of testing and, on the other, the impact that the introduction of the second-tier test had on the diagnostic accuracy of the screening program...
2022: Hormone Research in Pædiatrics
https://read.qxmd.com/read/35283460/emerging-treatment-for-congenital-adrenal-hyperplasia
#14
REVIEW
Perrin C White
PURPOSE OF REVIEW: Although the basic treatment of congenital adrenal hyperplasia (CAH) is well established, there are active clinical research projects to more closely mimic the normal diurnal rhythm of cortisol secretion and to reduce total glucocorticoid doses to minimize adverse metabolic effects. RECENT FINDINGS: We review clinical studies on CAH treatment published in the last 18 months or currently underway according to ClinicalTrials.gov listings...
June 1, 2022: Current Opinion in Endocrinology, Diabetes, and Obesity
https://read.qxmd.com/read/35199280/novel-treatments-for-congenital-adrenal-hyperplasia
#15
REVIEW
Mariska A M Schröder, Hedi L Claahsen-van der Grinten
Patients with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21OHD) need life-long medical treatment to replace the lacking glucocorticoids and potentially lacking mineralocorticoids and to lower elevated adrenal androgens. Long-term complications are common, including gonadal dysfunction, infertility, and cardiovascular and metabolic co-morbidity with reduced quality of life. These complications can be attributed to the exposure of supraphysiological dosages of glucocorticoids and the longstanding exposure to elevated adrenal androgens...
June 2022: Reviews in Endocrine & Metabolic Disorders
https://read.qxmd.com/read/35086098/current-and-novel-treatment-strategies-in-children-with-congenital-adrenal-hyperplasia
#16
REVIEW
Anna Nordenström, Henrik Falhammar, Svetlana Lajic
BACKGROUND: The standard treatment for congenital adrenal hyperplasia (CAH) in children is still hydrocortisone. Improved strategies for timing of the dose during the day and the dose per square meter body surface area used in children of different ages and developmental phases have improved the situation and outcome for the patients. Neonatal screening enables an earlier diagnosis and initiation of treatment, prevents from adrenal crisis, and improves growth and development also for children with the less severe forms of CAH...
2023: Hormone Research in Pædiatrics
https://read.qxmd.com/read/34735372/clinical-advances-in-the-pharmacotherapy-of-congenital-adrenal-hyperplasia
#17
REVIEW
Alessandro Prete, Richard J Auchus, Richard J Ross
BACKGROUND: Patients with 21-hydroxylase deficiency congenital adrenal hyperplasia (21OHD-CAH) have poor health outcomes with increased mortality, short stature, impaired fertility, and increased cardiovascular risk factors such as obesity. To address this, there are therapies in development that target the clinical goal of treatment, which is to control excess androgens with an adrenal replacement dose of glucocorticoid. METHODS: Narrative review of publications on recent clinical developments in the pharmacotherapy of congenital adrenal hyperplasia...
November 30, 2021: European Journal of Endocrinology
https://read.qxmd.com/read/34438053/management-of-fully-pubertal-girls-with-nonclassical-congenital-adrenal-hyperplasia-glucocorticoids-versus-oral-contraceptives
#18
JOURNAL ARTICLE
Liat de Vries, Michal Baum, Michal Horovitz, Moshe Phillip, Galia Barash, Orit Pinhas-Hamiel, Liora Lazar
OBJECTIVE: To compare clinical outcomes of 3 treatment regimens-glucocorticoids (GCs), oral contraceptives (OCs), or a combination of both-administered to adolescents and young women diagnosed in childhood with nonclassical congenital adrenal hyperplasia (NCCAH), who had been treated with GCs until their adult height was achieved. METHODS: A retrospective study of medical records of 53 female patients with NCCAH followed in 3 tertiary pediatric endocrinology institutes...
January 2022: Endocrine Practice
https://read.qxmd.com/read/34209888/thirty-year-lessons-from-the-newborn-screening-for-congenital-adrenal-hyperplasia-cah-in-japan
#19
REVIEW
Atsumi Tsuji-Hosokawa, Kenichi Kashimada
Congenital adrenal hyperplasia (CAH) is an inherited disorder caused by the absence or severely impaired activity of steroidogenic enzymes involved in cortisol biosynthesis. More than 90% of cases result from 21-hydroxylase deficiency (21OHD). To prevent life-threatening adrenal crisis and to help perform appropriate sex assignments for affected female patients, newborn screening (NBS) programs for the classical form of CAH have been introduced in numerous countries. In Japan, the NBS for CAH was introduced in 1989, following the screenings for phenylketonuria and congenital hypothyroidism...
June 29, 2021: International Journal of Neonatal Screening
https://read.qxmd.com/read/33415088/congenital-adrenal-hyperplasias-presenting-in-the-newborn-and-young-infant
#20
REVIEW
Antonio Balsamo, Federico Baronio, Rita Ortolano, Soara Menabo, Lilia Baldazzi, Valeria Di Natale, Sofia Vissani, Alessandra Cassio
Congenital adrenal hyperplasia includes autosomal recessive conditions that affect the adrenal cortex steroidogenic enzymes (cholesterol side-chain cleavage enzyme; 3β-hydroxysteroid dehydrogenase; 17α-hydroxylase/17,20 lyase; P450 oxidoreductase; 21-hydroxylase; and 11β-hydroxylase) and proteins (steroidogenic acute regulatory protein). These are located within the three major pathways of the steroidogenic apparatus involved in the production of mineralocorticoids, glucocorticoids, and androgens...
2020: Frontiers in Pediatrics
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