Keywords: CAH، هیپرپلازی مادرزادی آدرنال; CAH, Congenital Adrenal Hyperplasia; PCOS, Polycystic Ovary Syndrome; OAD, Other Adrenogenital DisordersPrenatal androgens; Androgens; Hyperandrogenism; Testosterone; Delinquency; Violent crime; Sex crime
مقالات ISI CAH، هیپرپلازی مادرزادی آدرنال (ترجمه نشده)
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Keywords: CAH، هیپرپلازی مادرزادی آدرنال; CAH, congenital adrenal hyperplasia; DHEA, dehydroepiandrosterone; E, estradiol; INSL3, insulin-like factor 3; T, testosterone; 2D/4D, the second to fourth digit ratio2D/4D; DHEA; Prenatal; Adrenal; Androgen; Sex differentiation
21-Hydroxylase deficiency-induced congenital adrenal hyperplasia in 230 Chinese patients: Genotype–phenotype correlation and identification of nine novel mutations
Keywords: CAH، هیپرپلازی مادرزادی آدرنال; CAH, congenital adrenal hyperplasia; 21-OHD, 21-hydroxylase deficiency; CYP21A2, cytochrome P450, family 21, subfamily A, polypeptide 2; MLPA, multiplex ligation-dependent probe amplification; SW, salt-wasting; SV, simple virilizing; NC, nonclassical; CYP
A novel homozygous mutation IVS6+5G>T in CYP11B1 gene in a Vietnamese patient with 11β-hydroxylase deficiency
Keywords: CAH، هیپرپلازی مادرزادی آدرنال; 11-OH, 11β-hydroxylase; 17-OH, 17α-hydroxylase/17,20-lyase; 21-OH, 21-hydroxylase; 3β-HSD, 3β-hydroxysteroid dehydrogenase; ACTH, adrenocorticotropic hormone; CAH, congenital adrenal hyperplasia; MaxENT, Maximum Entropy Model; MDD, Maximum Dependence Deco
Reduced Activity of 11β-Hydroxylase Accounts for Elevated 17α-Hydroxyprogesterone in Preterms
Keywords: CAH، هیپرپلازی مادرزادی آدرنال; 17OHP, 17α-Hydroxyprogesterone; 21OHD, 21-Hydroxylase deficiency; CAH, Congenital adrenal hyperplasia; GC-MS, Gas chromatography–mass spectrometry; NBS, Newborn screening; PTO, Pregnanetriolone; THE, Tetrahydrocortisone; THS, Tetrahydro-11-deoxycortisol
Sexual Function in Adult Life Following Passerini-Glazel Feminizing Genitoplasty in Patients with Congenital Adrenal Hyperplasia
Keywords: CAH، هیپرپلازی مادرزادی آدرنال; adrenal hyperplasia; congenital; disorders of sex development; genitalia; female; surgery; plastic; urogenital surgical proceduresBDI, Beck Depression Inventory; CAH, congenital adrenal hyperplasia; FSFI, Female Sexual Function Index; GSA, Genito Sensory
Haplotype-based approach for noninvasive prenatal diagnosis of congenital adrenal hyperplasia by maternal plasma DNA sequencing
Keywords: CAH، هیپرپلازی مادرزادی آدرنال; CAH, congenital adrenal hyperplasia; HMM, hidden Markov model; 21-OHD, 21-hydroxylase deficiency; CVS, chorionic villus sampling; cff-DNA, cell-free fetal DNA; NIPT, noninvasive prenatal testing; 17-OHP, 17-hydroxyprogesterone; ACTH, adrenocorticotropic h
Otoacoustic emissions, auditory evoked potentials and self-reported gender in people affected by disorders of sex development (DSD)
Keywords: CAH، هیپرپلازی مادرزادی آدرنال; ABR, auditory brainstem response; AEP, auditory evoked potential; CAH, congenital adrenal hyperplasia; CAIS, complete androgen insensitivity syndrome; CEOAE, click-evoked otoacoustic emission; DSD, disorder of sexual development; FFT, fast Fourier transfo
A review of the literature on common CYP17A1 mutations in adults with 17-hydroxylase/17,20-lyase deficiency, a case series of such mutations among Koreans and functional characteristics of a novel mutation
Keywords: CAH، هیپرپلازی مادرزادی آدرنال; CAH, congenital adrenal hyperplasia; 17-OHP, 17α-hydroxyprogesterone; DHEA, dehydroepiandrosterone; PRA, plasma renin activity; 11-DOC, 11-deoxycorticosteroneCongenital adrenal hyperplasia; Delayed puberty; Hypertension
Disorders of sexual differentiation: II. Diagnosis and treatment
Keywords: CAH، هیپرپلازی مادرزادی آدرنال; DSD, disorder(s) of sexual differentiation; CAH, congenital adrenal hyperplasia; MIS, Müllerian-inhibiting substance; PAIS, partial androgen insensitivity; GD, gonadal dysgenesis; CAIS, complete androgen–insensitivity syndrome; UGS, urogenital sinus; TUM,
Identifying a novel mutation of CYP17A1 gene from five Chinese 17α-hydroxylase/17, 20-lyase deficiency patients
Keywords: CAH، هیپرپلازی مادرزادی آدرنال; 17OHD, 17α-hydroxylase/17,20-lyase deficiency; CAH, congenital adrenal hyperplasia; BMI, body mass index; P, progesterone; DHEA, dehydroepiandrosterone; ACTH, adrenocorticotropic hormone; FSH, follicle stimulating hormone; LH, luteinizing hormone; T, test
Investigation of CYP21A2 mutations in Turkish patients with 21-hydroxylase deficiency and a novel founder mutation
Keywords: CAH، هیپرپلازی مادرزادی آدرنال; CAH, congenital adrenal hyperplasia; 21OH, 21-hydroxylase enzyme; NC, non classical form; SV, simple virilizing form; SW, salt-wasting form; 17OHP, 17-hydroxyprogesterone; 21OHD, steroid 21-hydroxylase deficiency; ACRS, amplification-created restriction s
Urinary steroid profiling in the diagnosis of congenital adrenal hyperplasia and disorders of sex development: Experience of a urinary steroid referral centre in Hong Kong
Keywords: CAH، هیپرپلازی مادرزادی آدرنال; 21OHD, 21-hydroxylase deficiency; 5ARD, 5α-reductase 2 deficiency; CAH, Congenital adrenal hyperplasia; DFT, Dynamic function tests; DHEA, Dehydroepiandrosterone; DSD, Disorders of sex development; THF, Tetrahydrocortisol; USP, Urinary steroid profilingSt
NADPH P450 oxidoreductase: Structure, function, and pathology of diseases
Keywords: CAH، هیپرپلازی مادرزادی آدرنال; ABS, Antley–Bixler syndrome; ACTH, adrenocorticotropic hormone; b5/CYB5, Cytochrome b5; CAH, congenital adrenal hyperplasia; CYP17A1/P450c17, Steroid 17hydroxylase, 17–20 lyase; CYP19A1, aromatase; CYP21A2, steroid 21 hydroxylase; DHEA, dehydroepiandroste
Two novel CYP11B1 mutations in congenital adrenal hyperplasia due to steroid 11β hydroxylase deficiency in a Tunisian family
Keywords: CAH، هیپرپلازی مادرزادی آدرنال; CAH, congenital adrenal hyperplasia; 11β-OHD, steroid 11β hydroxylase deficiency; CYP11B1, 11β hydroxylase enzyme; 17OHP, 17-hydroxyprogesterone; DOC, deoxycorticosterone; UPLC–MS/MS, ultrapressure liquid chromatography–tandem mass spectrometry; SPE, soli
Degree of External Genital Malformation at Birth in Children with a Disorder of Sex Development and Subsequent Caregiver Distress
Keywords: CAH، هیپرپلازی مادرزادی آدرنال; disorders of sex development; genitalia; parent-child relations; mental healthBAI, Beck Anxiety Inventory; BDI-2, Beck Depression Inventory, 2nd edition; CAH, congenital adrenal hyperplasia; DSD, disorders of sex development
Steroid 21-hydroxylase gene mutational spectrum in 50 Tunisian patients: Characterization of three novel polymorphisms
Keywords: CAH، هیپرپلازی مادرزادی آدرنال; CAH, congenital adrenal hyperplasia; CYP21A2, 21 hydroxylase enzyme; NC, non classical form; MLPA, multiplex ligation-dependent probe amplification; SNP, single nucleotide polymorphism; SV, simple virilizing form; SW, salt-wasting form; 17OHP, 17-hydroxyp
In silico structural, functional and pathogenicity evaluation of a novel mutation: An overview of HSD3B2 gene mutations
Keywords: CAH، هیپرپلازی مادرزادی آدرنال; HSD3B2, 3 beta hydroxysteroid dehydrogenase type II; DHEA, dehydroepiandrosterone; CAH, congenital adrenal hyperplasia; NAD, nicotine adenine dinucleotide; CBC, complete blood cell count; 17OHP, 17 hydroxyprogesterone; ACTH, adrenocorticotropic hormone; I
Absence of Prostatic Growth in Large Cohort of Adult Female Patients with Congenital Adrenal Hyperplasia
Keywords: CAH، هیپرپلازی مادرزادی آدرنال; adrenal hyperplasia, congenital; prostateAD, androstenedione; BMI, body mass index; BSA, body surface area; CAH, congenital adrenal hyperplasia; DHT, dihydrotestosterone; HP, hydroxyprogesterone; MRI, magnetic resonance imaging; PSA, prostate specific ant
Endocrine profile and phenotype-genotype correlation in unrelated patients with non-classical congenital adrenal hyperplasia
Keywords: CAH، هیپرپلازی مادرزادی آدرنال; CAH, Congenital adrenal hyperplasia; NC-CAH, Non-classical adrenal hyperplasia; 17-OHP, 17-hydroxyprogesterone; 21-OHD, 21-hydroxylase; Δ4, androstenedione; SHBG, sex hormone binding globulin; MHC, major histocompatibility complex; ACTH, adrenocorticotrop
Birth Prevalence Rates of Newborn Screening Disorders in Relation to Screening Practices in the United States
Keywords: CAH، هیپرپلازی مادرزادی آدرنال; BIA, Bacterial inhibition assay; CAH, Congenital adrenal hyperplasia; CC, Hemoglobin C mutation; CH, Primary congenital hypothyroidism; EIA, Enzyme-linked immunosorbent assay; FIA, Fluoroimmunoassay; HPLC, High performance liquid chromatography; HRSA, Hea
Molecular diagnosis of two families with classic congenital adrenal hyperplasia
Keywords: CAH، هیپرپلازی مادرزادی آدرنال; CAH, congenital adrenal hyperplasia; SV, simple virilising; 21-OHD, 21-hydroxylase deficiency; 11β-OHD, 11β-hydroxylase deficiency; 3β-OHD, 3β-hydroxysteroid dehydrogenase deficiency; 17α-OHD, 17α-hydroxylase deficiency; SW, salt-wasting; NC, non-classic;
Myelolipomas and other fatty tumours of the adrenals
Keywords: CAH، هیپرپلازی مادرزادی آدرنال; US, ultrasonography; CAH, congenital adrenal hyperplasia; HU, Hounsfield unitAdrenal glands; Myelolipomas; Conservative management; Laparoscopic adrenalectomy
Sexual orientation and the auditory system
Keywords: CAH، هیپرپلازی مادرزادی آدرنال; ABR, auditory brainstem response; AEP, auditory evoked potential; AIS, androgen-insensitivity syndrome; ASD, autism spectrum disorder; CAH, congenital adrenal hyperplasia; CEOAE, click-evoked otoacoustic emission; dB SPL, decibels sound-pressure level; DP
Long-Term Surgical Outcome of Masculinizing Genitoplasty in Large Cohort of Patients With Disorders of Sex Development
Keywords: CAH، هیپرپلازی مادرزادی آدرنال; genitalia, male; hypospadias; pseudohermaphroditism; sex differentiation disorders; urologic surgical procedures, male5α-RD2, 5α-reductase 2; CAH, congenital adrenal hyperplasia; DSD, disorder of sex development; GD, gonadal dysgenesis; PAIS, partial andr
Bladder After Total Urogenital Mobilization for Congenital Adrenal Hyperplasia and Cloaca—Does it Behave the Same?
Keywords: CAH، هیپرپلازی مادرزادی آدرنال; urinary bladder; abnormalities; cloaca; adrenal hyperplasia; congenital; reconstructive surgical proceduresBOO, bladder outlet obstruction; CAH, congenital adrenal hyperplasia; CIC, clean intermittent catheterization; DOA, detrusor overactivity; DUA, detr
Linkage analysis of the C4A/C4B copy number variation and polymorphisms of the adjacent steroid 21-hydroxylase gene in a healthy population
Keywords: CAH، هیپرپلازی مادرزادی آدرنال; CAH, congenital adrenal hyperplasia; C4, complement component C4; C4A*Q0, relative or absolute C4A gene deficiency; C4B*Q0, relative or absolute C4B gene deficiency; CYP21, steroid 21-hydroxylase; HSP70, heat shock protein 70; LTA, lymphotoxin alpha; AGER
International perspectives on the cost-effectiveness of tandem mass spectrometry for rare metabolic conditions
Keywords: CAH، هیپرپلازی مادرزادی آدرنال; MS/MS, Tandem mass spectrometry; CAH, Congenital adrenal hyperplasia; CH, Congenital hypothyroidism; CIT, Citrullinaemia; CPTII, Carnitine palmitoyltransferase type II deficiency; GAI/II, Glutaric academia, type I/II; GAL, Galactosemia; HCY, Homocystinuri
Masculinization of the mammalian cochlea
Keywords: CAH، هیپرپلازی مادرزادی آدرنال; ABRs, auditory brainstem responses; ADHD, attention-deficit/hyperactivity disorder; AEPs, auditory evoked potentials; AIS, androgen-insensitivity syndrome; CAH, congenital adrenal hyperplasia; Castr, castrated; CEOAEs, click-evoked otoacoustic emissions;
An enzyme immunoassay for determining 17α-hydroxyprogesterone in dried blood spots on filter paper using an ultramicroanalytical system
Keywords: CAH، هیپرپلازی مادرزادی آدرنال; CAH, Congenital adrenal hyperplasia; 17-OHP, 17α-hydroxyprogesterone; SUMA, Ultra Micro Analytic System; UMELISA, Ultramicro enzyme-linked immunosorbent assay; 17-OHP-3-CMO-BSA, 17α-hydroxyprogesterone-3-(O-carboxymethyl)oxime-bovine serum albumin; BSA, B
Simultaneous quantitation of seven endogenous C-21 adrenal steroids by liquid chromatography tandem mass spectrometry in human serum
Keywords: CAH، هیپرپلازی مادرزادی آدرنال; RIA, radioimmunoassay; GC–MS, gas chromatography–mass spectrometry; LC–MS/MS, liquid chromatography–tandem mass spectrometry; CAH, congenital adrenal hyperplasia; APCI, atmospheric pressure chemical ionization; MRM, multiple reaction monitoring11-Desoxyco
Sex assignment for newborns with ambiguous genitalia and exposure to fetal testosterone: Attitudes and practices of pediatric urologists
Keywords: CAH، هیپرپلازی مادرزادی آدرنال; AAP, American Academy of Pediatrics; CAH, Congenital adrenal hyperplasia