Keywords: هیپرپلازی آدرنال مادرزادی; congenital adrenal hyperplasia; adrenal insufficiency; children; adolescence; novel; therapy
مقالات ISI هیپرپلازی آدرنال مادرزادی (ترجمه نشده)
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Keywords: هیپرپلازی آدرنال مادرزادی; Steroidogenesis; Congenital adrenal hyperplasia; 21-Hydroxylase; Androgen; Steroid hydroxylase; Adrenal insufficiency; Ambiguous genitalia; Disorder of sex development;
Keywords: هیپرپلازی آدرنال مادرزادی; Hemiconvulsion-Hemiplegia-Epilepsy; Congenital adrenal hyperplasia; Inflammation;
Keywords: هیپرپلازی آدرنال مادرزادی; AR; androgen receptor; CAH; congenital adrenal hyperplasia; DBD; DNA-binding domain; 17-OHP; 17-hydroxyprogesterone; PCR; polymerase chain reaction; T; testosterone;
Keywords: هیپرپلازی آدرنال مادرزادی; 17OHP; 17-hydroxyprogesterone; CAH; Congenital adrenal hyperplasia; FIA; Fluoroimmunoassay; FN; False negative; FP; False positive; FPR; False positive rate; LC-MS/MS; Liquid chromatography-tandem mass spectrometry; NBS; Newborn screening; NICU; Neonatal
Keywords: هیپرپلازی آدرنال مادرزادی; Qualitative; Retrospective; Interview; Infants; Parents; Children with special health care needs; Chronic conditions; Congenital adrenal hyperplasia; Health literacy; Social support; Endocrinology; Newborn screening; Medical home; Decision support; Disord
Keywords: هیپرپلازی آدرنال مادرزادی; 21-Hydroxylase deficiency; Congenital adrenal hyperplasia; Cortisol metabolism; 11β-Hydroxysteroid dehydrogenase;
Keywords: هیپرپلازی آدرنال مادرزادی; Congenital adrenal hyperplasia; Urogenital sinus mobilization; Common channel
Keywords: هیپرپلازی آدرنال مادرزادی; Congenital adrenal hyperplasia; 21 Hydroxylase deficiency; Fertility; Testicular adrenal rest tumours; Hyperandrogenism
Keywords: هیپرپلازی آدرنال مادرزادی; Congenital Adrenal Hyperplasia; Neonatal Screening; Early Diagnosis; 17-hydroxyprogesteroneHiperplasia Adrenal Congênita; Triagem Neonatal; Diagnóstico Precoce; 17-hidroxiprogesterona
Keywords: هیپرپلازی آدرنال مادرزادی; Pregnancy adrenal disease; Cushing's syndrome; Adrenal insufficiency; Pheochromocytoma; Primary hyperaldosteronism; Congenital adrenal hyperplasia
Keywords: هیپرپلازی آدرنال مادرزادی; Neonatal emergencies; Hypothyrodism; Congenital adrenal hyperplasia; Hypoglycemia; Jaundice; Hyponatremia; Hypocalcemia;
Keywords: هیپرپلازی آدرنال مادرزادی; Congenital adrenal hyperplasia; 17-Hydroxyprogesterone; 21-Hydroxylase deficiency; Newborn screening; SUMA;
Keywords: هیپرپلازی آدرنال مادرزادی; APCI; atmospheric pressure chemical ionization; APPI; atmospheric pressure photochemical ionization; CDC; Center for Disease Control; CI; chemical ionization; CID; collision-induced dissociation; CRPC; castration-resistant prostate cancer; ELISA; enzyme-l
Keywords: هیپرپلازی آدرنال مادرزادی; CAH; congenital adrenal hyperplasia; 21OHD; 21-hydroxylase deficiency; RCCX module; RP, C4, CYP21 and TNX genes; SW; salt-wasting; SV; simple-virilizing; NC; non-classical; ACTH; Adrenocorticotropic Hormone; 17-OHP; 17-hydroxyprogesterone; DHEAS; Dehydroe
Keywords: هیپرپلازی آدرنال مادرزادی; AGEs; advanced glycation endproducts; BMD; bone mineral density; CAH; congenital adrenal hyperplasia; DM; diabetes mellitus; DPP-4; dipeptydil petptidase-4; DXA; dual-energy X-ray absorptiometry; FRAX; fracture risk assessment tool; FSH; follicle stimulat
Keywords: هیپرپلازی آدرنال مادرزادی; neonate; shock; early-onset sepsis; late-onset sepsis; congenital heart disease; cyanosis; inborn errors of metabolism; congenital adrenal hyperplasia; hemorrhagic disease of the newborn; vitamin K–deficient bleeding
Keywords: هیپرپلازی آدرنال مادرزادی; Prenatal treatment; Dexamethasone; Congenital adrenal hyperplasia; Social functioning
Keywords: هیپرپلازی آدرنال مادرزادی; Congenital adrenal hyperplasia; Congenital adrenal hyperplasia-associated encephalopathy; Acute encephalopathy; Acute encephalopathy with biphasic seizures and late reduced diffusion; Acute encephalopathy with febrile convulsive status epilepticus; Hemico
Keywords: هیپرپلازی آدرنال مادرزادی; Disorders of sex development; DSD; Genital surgery in children; Congenital adrenal hyperplasia; CAH; Chromosomal anomalies; Gonadal dysgenesis; Gonadal dysplasia; 5α reductase deficiency; 17β hydroxy steroid dehydrogenase; 17βHSD; Androgen insensitivity s
Genitoplasty in newborn females with adrenogenital syndrome: Focus on the reconstruction technique and its outcomes
Keywords: هیپرپلازی آدرنال مادرزادی; Congenital adrenal hyperplasia; Genitoplasty; Adrenogenital syndrome;
Prenatal dexamethasone treatment in the context of at risk CAH pregnancies: Long-term behavioral and cognitive outcome
Keywords: هیپرپلازی آدرنال مادرزادی; CAH; congenital adrenal hyperplasia; DEX; dexamethasone; WAIS; Wechsler Adult Intelligence Scale; WISC; Wechsler Intelligence Scales for Children; WMS; Wechsler Memory Scale; B-DEFS-SF; Barkley Deficit in Executive Functioning Scale - Short Form; MADRS;
Functional characterization and molecular modeling of the mutations in CYP21A2 gene from patients with Congenital Adrenal Hyperplasia
Keywords: هیپرپلازی آدرنال مادرزادی; Congenital Adrenal Hyperplasia; CYP21A2 gene; Steroid 21-Hydroxylase deficiency; Molecular modeling; p.H365N; p.F306V; CAH; Congenital adrenal hyperplasia; CYP21A2; 21-Hydroxylase gene; NC; non classical; COS; CV-1 (simian) in Origin, carrying the SV40 ge
11β-Hydroxylase deficiency detected by urine steroid metabolome profiling using gas chromatography-mass spectrometry
Keywords: هیپرپلازی آدرنال مادرزادی; 17-OHP; 17 hydroxyprogesterone; 17- OHPN; 17 hydroxypregnanolone; CAH; Congenital adrenal hyperplasia; GC-MS; Gas chromatography- mass spectrometry; RI; Reference interval; SI; International system of units; SKML; Dutch Foundation for Quality Assessment i
Prevalence, clinical characteristics and long-term outcomes of classical 11 β-hydroxylase deficiency (11BOHD) in Turkish population and novel mutations in CYP11B1 gene
Keywords: هیپرپلازی آدرنال مادرزادی; Congenital adrenal hyperplasia; 11β-hydroxylase deficiency; CYP11B1; Gene; Genotype-Phenotype; Novel CYP11B1 mutation;
Clitoral hoodplasty in females with disorders of sex development
Keywords: هیپرپلازی آدرنال مادرزادی; Clitoral hoodplasty; Feminizing surgery; Clitoral hypersensitivity; Disorders of sex development; Congenital adrenal hyperplasia;
The spectrum of CYP21A2 mutations in Congenital Adrenal Hyperplasia in an Indian cohort
Keywords: هیپرپلازی آدرنال مادرزادی; CAH; Congenital Adrenal Hyperplasia; CYP21A2; 21-Hydroxylase gene; SW; salt wasting; SV; simple virilizing; NC; non classical; Congenital Adrenal Hyperplasia; CYP21A2 gene; Mutations; Genotype; Phenotype;
Novel and prevalent CYP11B1 gene mutations in Turkish patients with 11-β hydroxylase deficiency
Keywords: هیپرپلازی آدرنال مادرزادی; Congenital adrenal hyperplasia; CYP11B1; 11beta-hydroxylase deficiency; CYP11B1 novel mutations;
Recomendaciones para el diagnóstico y tratamiento de pacientes con formas clásicas de hiperplasia suprarrenal congénita por déficit de 21-hidroxilasa
Keywords: هیپرپلازی آدرنال مادرزادی; Déficit de 21-hidroxilasa; Hiperplasia suprarrenal congénita; Pérdida salina; Genitales ambiguos; 21-hydroxylase deficiency; Congenital adrenal hyperplasia; Salt-wasting; Genital ambiguity;
Nouveautés dans l'hyperplasie congénitale des surrénales
Keywords: هیپرپلازی آدرنال مادرزادی; Hyperplasie congénitale des surrénales; Formes classiques; Prise en charge pédiatrique; Congenital adrenal hyperplasia; Classical forms; Pediatric management;
CYP21A2 intronic variants causing 21-hydroxylase deficiency
Keywords: هیپرپلازی آدرنال مادرزادی; CAH; congenital adrenal hyperplasia; SW; salt wasting; SV; simple virilizing; NC; non-classic; CL; classic; HSF; human splicing finder; MLPA; multiplex ligation-dependent probe amplification; 21-Hydroxylase deficiency; Intronic variant; Splicing mutations
Assembling a Functional Clitoris and Vulva from a Pseudo-Penis: A Surgical Technique for an Adult Woman with Congenital Adrenal Hyperplasia
Keywords: هیپرپلازی آدرنال مادرزادی; Congenital adrenal hyperplasia; Ambiguous genitalia; Penis; Clitoris; Orgasm; Reconstruction; Sexual functions;
Testicular Adrenal Rest Tumor (TART) in congenital adrenal hyperplasia
Keywords: هیپرپلازی آدرنال مادرزادی; Congenital adrenal hyperplasia; Testicular adrenal rest tumor;
A high rate of novel CYP11B1 mutations in Saudi Arabia
Keywords: هیپرپلازی آدرنال مادرزادی; Congenital adrenal hyperplasia; CYP11B1; Mutations; Ambiguous genitalia;
Should we question early feminizing genitoplasty for patients with congenital adrenal hyperplasia and XX karyotype?
Keywords: هیپرپلازی آدرنال مادرزادی; Congenital adrenal hyperplasia; Gender identity; Interpersonal relationships; Relationships between family and healthcare professionals; Plastic surgery;
Protocolo diagnóstico del hiperandrogenismo adrenal
Keywords: هیپرپلازی آدرنال مادرزادی; DHEA-s; Testosterona; Ovario poliquístico; Hiperplasia adrenal congénitaDHEA-S; Testosterone; Polycystic ovary; Congenital adrenal hyperplasia
Clinical, hormonal, ovarian, and genetic aspects of 46,XX patients with congenital adrenal hyperplasia due to CYP17A1 defects
Keywords: هیپرپلازی آدرنال مادرزادی; CYP17A1; congenital adrenal hyperplasia; ovarian cysts; P450c17 activity deficiency; hypergonadotropic hypogonadism;
Phenotypic, metabolic, and molecular genetic characterization of six patients with congenital adrenal hyperplasia caused by novel mutations in the CYP11B1 gene
Keywords: هیپرپلازی آدرنال مادرزادی; 11β-hydroxylase; Congenital adrenal hyperplasia; CYP11B1; CYP11B1 mutant; Steroid hormone
Aromatase deficiency: a novel compound heterozygous mutation identified in a Chinese girl with severe phenotype and obvious maternal virilization
Keywords: هیپرپلازی آدرنال مادرزادی; Aromatase deficiency; CYP19A1; Virilization; Disorder of sexual development; Enzyme activity; POR; cytochrome 450 oxidoreductase; 46, XX DSD; 46, XX disorder of sexual development; ACTH; adrenocorticotropic hormone; DHEA-S; sulfated dehydroepiandrosterone
Chemical derivatization for enhancing sensitivity during LC/ESI-MS/MS quantification of steroids in biological samples: a review
Keywords: هیپرپلازی آدرنال مادرزادی; 1,25(OH)2D2; 1α,25-dihydroxyvitamin D2; 1,25(OH)2D3; 1α,25-dihydroxyvitamin D3; 17(OH)P4; 17α-hydroxyprogesterone; 17(OH)P5; 17α-hydroxypregnenolone; 24,25(OH)2D3; 24R,25-dihydroxyvitamin D3; 25(OH)D2; 25-hydroxyvitamin D2; 25(OH)D3; 25-hydroxyvitamin
Prenatal Diagnosis of Congenital Adrenal Hyperplasia
Keywords: هیپرپلازی آدرنال مادرزادی; Congenital adrenal hyperplasia; 21-Hydroxylase deficiency; Amniocentesis; Fetal sex determination;
Long-term health issues related to disorders or differences in sex development/intersex
Keywords: هیپرپلازی آدرنال مادرزادی; Differences of sex development; Disorders of sex development; DSD; Intersex; Congenital adrenal hyperplasia; Androgen insensitivity syndrome;
Hiperplasia suprarrenal congénita debida a deficiencia de 17α-hidroxilasa: a propósito de una nueva mutación en el gen CYP17A1
Keywords: هیپرپلازی آدرنال مادرزادی; Retraso puberal; Hiperplasia suprarrenal congénita; Mineralocorticoides, Gen CYP17A1Delayed puberty; Congenital adrenal hyperplasia; Mineralocorticoid; CYP17A1 gene
A late 17α-hydroxylase deficiency diagnosis that leads to the discovery of a new CYP17 gene mutation
Keywords: هیپرپلازی آدرنال مادرزادی; 17α-Hydroxylase deficiency; Congenital adrenal hyperplasia; Monogenic hypertension; Hypokalaemia; HypogonadismDéficit en 17α-hydroxylase; Hyperplasie congénitale des surrénales; Hypertension artérielle monogénique; Hypokaliémie; Hypogonadisme
A de novo mutation in CYP21A2 gene in a case of in vitro fertilization
Keywords: هیپرپلازی آدرنال مادرزادی; CYP21A2 gene; CYP21A1 pseudo gene; 21-Hydroxylase deficiency; Congenital adrenal hyperplasia; In vitro fertilization; Non-classical CAH form
Chimeric CYP11B2/CYP11B1 causing 11β-hydroxylase deficiency in Chinese patients with congenital adrenal hyperplasia
Keywords: هیپرپلازی آدرنال مادرزادی; 11β-Hydroxylase deficiency; Chimeric CYP11B2/CYP11B1; Congenital adrenal hyperplasia; Mutation;
Identification of seven novel CYP11B1 gene mutations in Chinese patients with 11β-hydroxylase deficiency
Keywords: هیپرپلازی آدرنال مادرزادی; Congenital adrenal hyperplasia; 11-Beta-hydroxylase deficiency; CYP11B1; Mutation
Performance enhancement in the measurement of 5 endogenous steroids by LC-MS/MS combined with differential ion mobility spectrometry
Keywords: هیپرپلازی آدرنال مادرزادی; 11-DOC-ol; 11-deoxycortisol; DOC; 11-deoxycorticosterone; 17-OHP; 17-hydroxy progesterone; DMS; Differential ion mobility spectrometry; IA; Immunoassay; CIA; Chemiluminiscent immunoassay; CAH; Congenital adrenal hyperplasia; LLE; liquid-liquid extractio
Naltrexone as a diagnostic tool to distinguish between hyperandrogenemic and hypothalamic ovarian failure in females with congenital adrenal hyperplasia due to 21-hydroxylase-deficiency (CAH)
Keywords: هیپرپلازی آدرنال مادرزادی; Congenital adrenal hyperplasia; Naltrexone; Hyperandrogenemia; Hypothalamic amenorrhe;
Performance of Phalangeal Quantitative Ultrasound Parameters in the Evaluation of Reduced Bone Mineral Density Assessed By DX in Patients with 21 Hydroxylase Deficiency
Keywords: هیپرپلازی آدرنال مادرزادی; Congenital adrenal hyperplasia; QUS; Bone mass;