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■ Abbreviation / Long Form : CAH / congenital adrenal hyperplasia

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Total Number of Papers: 1651
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Abbreviation:   CAH  (>> Co-occurring Abbreviation)
Long Form:   congenital adrenal hyperplasia
 Abbreviation Variation
 Long Form Variation
 Pair(Abbreviation/Long Form) Variation
No. Year Title Co-occurring Abbreviation
2019 A Novel Nonsense Mutation c.374C>G in CYP21A2 Gene of a Vietnamese Patient with Congenital Adrenal Hyperplasia. MLPA
2019 A pilot study on newborn screening for congenital adrenal hyperplasia in Beijing. ---
2019 Adrenal crises in children with adrenal insufficiency: epidemiology and risk factors. AC, AI
2019 Baseline Characteristics of Infants With Atypical Genital Development: Phenotypes, Diagnoses, and Sex of Rearing. ---
2019 Bilateral adrenal myelolipomas presenting as acute adrenal insufficiency in an adult with congenital adrenal hyperplasia. ---
2019 Birth Size in Neonates with Congenital Adrenal Hyperplasia due to 21-hydroxylase Deficiency SD
2019 Case series of testicular adrenal rest tumours in boys with congenital adrenal hyperplasia: A single centre experience. TART
2019 Causes Of Primary Amenorrhea At Tertiary Level Hospital. ---
2019 Classic congenital adrenal hyperplasia and its impact on reproduction. ---
10  2019 Clinical perspectives in congenital adrenal hyperplasia due to 3beta-hydroxysteroid dehydrogenase type 2 deficiency. 3betaHSD2D, DHEA, SW
11  2019 Combined gestational age- and birth weight-adjusted cutoffs for newborn screening of congenital adrenal hyperplasia. BW, FP, GA, NBS, PPV
12  2019 Congenital adrenal hyperplasia with salt-wasting crisis and arrhythmia: a case study. ---
13  2019 CYP21A2 Gene Pathogenic Variants: A Multicenter Study on Genotype-Phenotype Correlation from a Portuguese Pediatric Cohort. NC, SV, SW
14  2019 Dried Blood Spot Multiplexed Steroid Profiling Using Liquid Chromatography Tandem Mass Spectrometry in Korean Neonates. DBS
15  2019 Early central blood pressure elevation in adult patients with 21-hydroxylase deficiency. BP, CIMT, PWV, rAI
16  2019 Epigenetic Alterations Associated With Early Prenatal Dexamethasone Treatment. DEX, DMPs, SNPs
17  2019 Evaluation of the Dutch neonatal screening for congenital adrenal hyperplasia. SV, SW
18  2019 Gender dysphoria and XX congenital adrenal hyperplasia: how frequent is it? Is male-sex rearing a good idea? GD, MGR
19  2019 Genetics of congenital adrenal hyperplasia and genotype-phenotype correlation. ---
20  2019 Genotype/phenotype correlations in 538 congenital adrenal hyperplasia patients from Germany and Austria: discordances in milder genotypes and in screened versus prescreening patients. ---
21  2019 Laparoscopically Assisted Vaginal Pull-Through in 7 Cases of Congenital Adrenal Hyperplasia with High Urogenital Sinus Confluence: Early Results. UGS
22  2019 Liquid chromatography-tandem mass spectrometry analysis of 17-hydroxyprogesterone in dried blood spots revealed matrix effect on immunoassay. DBS, PT
23  2019 Long-term Growth in Congenital Adrenal Hyperplasia. SDS, TH
24  2019 Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: A Pilot Study with 38,935 Infants DBS, SW
25  2019 Novel variants of CYP21A2 in Vietnamese patients with congenital adrenal hyperplasia. ---
26  2019 Revisiting the association of HLA alleles and haplotypes with CYP21A2 mutations in a large cohort of patients with congenital adrenal hyperplasia. HLA
27  2019 Sex assignment practice in disorders of sexual differentiation: survey results from paediatric endocrinologists in the Arab region. 5alpha RD, CAIS, DSD
28  2019 Testicular adrenal rest tumors: current insights on prevalence, characteristics, origin and treatment. ACTH, TARTs
29  2019 The importance and implications of preconception genetic testing for accurate fetal risk estimation in 21-hydroxylase congenital adrenal hyperplasia (CAH). ---
30  2019 Typical characteristics of children with congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency: a single-centre experience and review of the literature. 11beta-OHD, BAs, CA, TARTs
31  2018 46,XY Disorder of Sex Development Caused by 17alpha-Hydroxylase/17,20-Lyase Deficiency due to Homozygous Mutation of CYP17A1 Gene: Consequences of Late Diagnosis. ---
32  2018 A Chinese patient with 11beta-hydroxylase deficiency due to novel compound heterozygous mutation in CYP11B1 gene: a case report. 11beta-OHD, PCR
33  2018 A Klinefelter boy with congenital adrenal hyperplasia: too much or too little androgens? KS
34  2018 A Rare Cause of Congenital Adrenal Hyperplasia: Clinical and Genetic Findings and Follow-up Characteristics of Six Patients with 17-Hydroxylase Deficiency Including Two Novel Mutations ---
35  2018 A rare variety of congenital adrenal hyperplasia with mosaic Klinefelter syndrome: a unique combination presenting with ambiguous genitalia and sexual precocity KS
36  2018 Adrenal Insufficiency in Young Children: a Mixed Methods Study of Parents' Experiences. AI
37  2018 Androgen excess is due to elevated 11-oxygenated androgens in treated children with congenital adrenal hyperplasia. AN, DHEA
38  2018 Association of leptin with cardiometabolic factors in schoolchildren and adolescents with congenital adrenal hyperplasia. BMI, CRF
39  2018 Bilateral Adrenalectomy in Congenital Adrenal Hyperplasia: A Systematic Review and Meta-Analysis. BMI, HPA
40  2018 Biology of the Adrenal Gland Cortex Obviates Effective Use of Adeno-Associated Virus Vectors to Treat Hereditary Adrenal Disorders. AAV
41  2018 Bone Mineral Content and Density in Indian Children with Congenital Adrenal Hyperplasia. ---
42  2018 Bone mineral density and body composition in children with congenital adrenal hyperplasia. BMD, TBMD, VAT
43  2018 Cardiac function in paediatric patients with congenital adrenal hyperplasia due to 21 hydroxylase deficiency. ECG, LVPWd
44  2018 Cardiovascular and Metabolic Outcomes in Congenital Adrenal Hyperplasia: A Systematic Review and Meta-Analysis. WMD
45  2018 Case report: Clitoromegaly as a consequence of Congenital Adrenal Hyperplasia. An accurate medical and surgical approach. ---
46  2018 Causes, Patterns, and Severity of Androgen Excess in 1205 Consecutively Recruited Women. ACC, DHEAS, OHT, PCOS
47  2018 Challenges in Prenatal Treatment with Dexamethasone. ---
48  2018 Characteristics of Female Genital Restoration Surgery for Congenital Adrenal Hyperplasia Using a Large-scale Administrative Database. FGRS
49  2018 Childhood Sex-Typed Behavior and Gender Change in Individuals with 46,XY and 46,XX Disorders of Sex Development: An Iranian Multicenter Study. CAIS, DSD, PSAI
50  2018 Children with premature pubarche: is an alterated neonatal 17-Ohp screening test a predictive factor? ---
51  2018 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency - the next disease included in the neonatal screening program in Poland. DSD
52  2018 Clinical characteristics of Taiwanese children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency detected by neonatal screening. SV, SW
53  2018 Clinical presentation and mutational spectrum in a series of 166 patients with classical 21-hydroxylase deficiency from South China. CYP21A2, I2G, MLPA, SV, SW
54  2018 Clinical Spectrum of Disorders of Sex Development: A Cross-sectional Observational Study. DSD
55  2018 Cognitive function in children with classic congenital adrenal hyperplasia. FS, IQ, SBST4, SW
56  2018 Complement component 4 variations may influence psychopathology risk in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. ---
57  2018 Complex Association of Sex Hormones on Left Ventricular Systolic Function: Insight into Sexual Dimorphism. GLS, LVEF
58  2018 Compound heterozygosity for a whole gene deletion and p.R124C mutation in CYP21A2 causing nonclassic congenital adrenal hyperplasia. ACTH
59  2018 Congenital Adrenal Hyperplasia (CAH) due to 21-Hydroxylase Deficiency: A Comprehensive Focus on 233 Pathogenic Variants of CYP21A2 Gene. ---
60  2018 Congenital adrenal hyperplasia causing hypertension: an illustrative review. ---
61  2018 Congenital adrenal hyperplasia due to 21-hydroxylase deficiency in South Africa. CSW, DSD, IQR, SV
62  2018 Congenital adrenal hyperplasia: clinical symptoms and diagnostic methods. ---
63  2018 CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants. ---
64  2018 Cystourethroscopy versus contrast studies in urogenital sinus and cloacal anomalies in children. ---
65  2018 Disorders of sex development: a study of 194 cases. DSD
66  2018 Emotional and behavioral adjustment in 4 to 11-year-old boys and girls with classic congenital adrenal hyperplasia and unaffected siblings. SDQ
67  2018 Evaluation of behavioral problems after prenatal dexamethasone treatment in Swedish children and adolescents at risk of congenital adrenal hyperplasia. DEX
68  2018 Extensive Bilateral Adrenal Rest Testicular Tumors in a Patient With 3beta-Hydroxysteroid Dehydrogenase Type 2 Deficiency. 3betaHSD2D, TARTs
69  2018 Functional Identification of Compound Heterozygous Mutations in the CYP17A1 Gene Resulting in Combined 17alpha-Hydroxylase/17,20-Lyase Deficiency. CYP17A1, HEK293T
70  2018 Gender and Cortisone: Clinical Practice and Transatlantic Exchange in the Medical Management of Intersex in the 1950s. ---
71  2018 Gender Identity and Sexual Function in 46,XX Patients with Congenital Adrenal Hyperplasia Raised as Males. ---
72  2018 Gendered Peer Involvement in Girls with Congenital Adrenal Hyperplasia: Effects of Prenatal Androgens, Gendered Activities, and Gender Cognitions. C-CAH, NC-CAH
73  2018 Generation of monoclonal antibodies against 17alpha-hydroxyprogesterone for newborn screening of congenital adrenal hyperplasia. ---
74  2018 Genital Reconstructive Surgery in Females With Congenital Adrenal Hyperplasia: A Systematic Review and Meta-Analysis. ---
75  2018 Genotype Is Associated to the Degree of Virilization in Patients With Classic Congenital Adrenal Hyperplasia. SV, SW
76  2018 Giant bilateral adrenal myelolipomas in two Chinese families with congenital adrenal hyperplasia. ---
77  2018 Gonadal function in adult male patients with congenital adrenal hyperplasia. OR, TART
78  2018 Growth of patients with congenital adrenal hyperplasia due to 21-hydroxylase in infancy, glucocorticoid requirement and the role of mineralocorticoid therapy. SD, SDS
79  2018 Health status in 1040 adults with disorders of sex development (DSD): a European multicenter study. DSD
80  2018 Homocysteine Level in Children with Classic Congenital Adrenal Hyperplasia: Relationship to Carotid Intimal Wall Thickness and Left Ventricular Function. CA-IMT, DcT, LV, LVM, LVMI
81  2018 Iatrogenic Cushing Syndrome in a Child With Congenital Adrenal Hyperplasia: Erroneous Compounding of Hydrocortisone. ---
82  2018 Improved medical-alert ID ownership and utilization in youth with congenital adrenal hyperplasia following a parent educational intervention. ID, PDSA, QI
83  2018 Initial presentations and associated clinical findings in patients with classical congenital adrenal hyperplasia. AG
84  2018 Is It Beneficial to Patients to Include Congenital Adrenal Hyperplasia (CAH) Among the Disorders of Sex Development (DSD)? DSD
85  2018 Long-term urinary symptoms in adolescent and adult women with congenital adrenal hyperplasia. ---
86  2018 Long-term use of continuous subcutaneous hydrocortisone infusion therapy in patients with congenital adrenal hyperplasia. CSHI, HRQoL
87  2018 Longitudinal Assessment of Illnesses, Stress Dosing, and Illness Sequelae in Patients With Congenital Adrenal Hyperplasia. ER, URIs
88  2018 MANAGEMENT OF ENDOCRINE DISEASE: Differential diagnosis, investigation and therapy of bilateral adrenal incidentalomas. AIs
89  2018 MECHANISMS IN ENDOCRINOLOGY: Rare defects in adrenal steroidogenesis. ---
90  2018 Mental Health and Disorders of Sex Development/Intersex Conditions in Iranian Culture: Congenital Adrenal Hyperplasia, 5-alpha Reductase Deficiency-Type 2, and Complete Androgen Insensitivity Syndrome. CAIS
91  2018 Multiples of Median-Transformed, Normalized Reference Ranges of Steroid Profiling Data Independent of Age, Sex, and Units. MoM
92  2018 Mutational analysis of rare subtypes of congenital adrenal hyperplasia in a highly inbred population. ---
93  2018 Non-human Papillomavirus Cervical Mucinous Adenocarcinoma in a Phenotypic Male with Congenital Adrenal Hyperplasia. GAS, HPV
94  2018 Para-ovarian adrenal rest tumors: gynecologic manifestations of untreated congenital adrenal hyperplasia. ---
95  2018 Parental decisional regret and views about optimal timing of female genital restoration surgery in congenital adrenal hyperplasia. DR, DRS, FGRS
96  2018 Perioperative care of congenital adrenal hyperplasia - a disparity of physician practices in Canada. CPAS, CPEG
97  2018 Phenotype heterogeneity of congenital adrenal hyperplasia due to genetic mosaicism and concomitant nephrogenic diabetes insipidus in a sibling. C21OHD, NDI
98  2018 Poor compliance and increased mortality, depression and healthcare costs in patients with congenital adrenal hyperplasia. MPR
99  2018 Prednisolone is associated with a worse bone mineral density in primary adrenal insufficiency. BMD, GC, HC, PAI, visit2
100  2018 Prenatal dexamethasone treatment in the context of at risk CAH pregnancies: Long-term behavioral and cognitive outcome. DEX