Fertility and Sterility, ISSN 0015-0282, 2010, Volume 94, Issue 2, pp. 684 - 689
Objective To test the hypothesis that women with polycystic ovary syndrome (PCOS) are distinguishable from those with 21-hydroxylase–deficient nonclassic...
Internal Medicine | Obstetrics and Gynecology | Polycystic ovary syndrome | hirsutism | ACTH stimulation test | oral glucose tolerance test | androgens | nonclassic adrenal hyperplasia | insulin resistance | polycystic ovaries | HOMEOSTASIS MODEL ASSESSMENT | DEGREE RELATIVES | RISK | PREVALENCE | HYPERANDROGENEMIA | DEFICIENCY | OBSTETRICS & GYNECOLOGY | REPRODUCTIVE BIOLOGY | INSULIN-RESISTANCE | GLUCOSE | Prospective Studies | Humans | Middle Aged | Amenorrhea - genetics | Adrenal Hyperplasia, Congenital - genetics | Hirsutism - metabolism | Obesity - genetics | Oligomenorrhea - genetics | Polycystic Ovary Syndrome - diagnosis | Young Adult | Adrenal Hyperplasia, Congenital - diagnosis | Steroid 21-Hydroxylase - genetics | Follicle Stimulating Hormone - blood | Adult | Female | Obesity - diagnosis | Adrenocorticotropic Hormone | Hirsutism - diagnosis | Diagnosis, Differential | Glucose Tolerance Test | Polycystic Ovary Syndrome - metabolism | Hirsutism - genetics | Luteinizing Hormone - blood | Adrenal Hyperplasia, Congenital - metabolism | Insulin Resistance | 17-alpha-Hydroxyprogesterone - blood | Obesity - metabolism | Oligomenorrhea - metabolism | Phenotype | Adolescent | Polycystic Ovary Syndrome - genetics | Amenorrhea - metabolism | Oligomenorrhea - diagnosis | Amenorrhea - diagnosis | Women | Genetic aspects | Comparative analysis | Stein-Leventhal syndrome | Hyperplasia
Internal Medicine | Obstetrics and Gynecology | Polycystic ovary syndrome | hirsutism | ACTH stimulation test | oral glucose tolerance test | androgens | nonclassic adrenal hyperplasia | insulin resistance | polycystic ovaries | HOMEOSTASIS MODEL ASSESSMENT | DEGREE RELATIVES | RISK | PREVALENCE | HYPERANDROGENEMIA | DEFICIENCY | OBSTETRICS & GYNECOLOGY | REPRODUCTIVE BIOLOGY | INSULIN-RESISTANCE | GLUCOSE | Prospective Studies | Humans | Middle Aged | Amenorrhea - genetics | Adrenal Hyperplasia, Congenital - genetics | Hirsutism - metabolism | Obesity - genetics | Oligomenorrhea - genetics | Polycystic Ovary Syndrome - diagnosis | Young Adult | Adrenal Hyperplasia, Congenital - diagnosis | Steroid 21-Hydroxylase - genetics | Follicle Stimulating Hormone - blood | Adult | Female | Obesity - diagnosis | Adrenocorticotropic Hormone | Hirsutism - diagnosis | Diagnosis, Differential | Glucose Tolerance Test | Polycystic Ovary Syndrome - metabolism | Hirsutism - genetics | Luteinizing Hormone - blood | Adrenal Hyperplasia, Congenital - metabolism | Insulin Resistance | 17-alpha-Hydroxyprogesterone - blood | Obesity - metabolism | Oligomenorrhea - metabolism | Phenotype | Adolescent | Polycystic Ovary Syndrome - genetics | Amenorrhea - metabolism | Oligomenorrhea - diagnosis | Amenorrhea - diagnosis | Women | Genetic aspects | Comparative analysis | Stein-Leventhal syndrome | Hyperplasia
Journal Article
Journal of Cellular Biochemistry, ISSN 0730-2312, 01/2019, Volume 120, Issue 1, pp. 894 - 906
Unraveling molecular mechanisms that regulate tumor development and proliferation is of the utmost importance in the quest to decrease the high mortality rate...
adrenocortical tumors | cancer treatment | mitogen‐activated protein kinase/extracellular signal‐regulated protein kinases (MAPK/ERK) pathway | adrenocortical carcinoma (ACC) | mitogen-activated protein kinase/extracellular signal-regulated protein kinases (MAPK/ERK) pathway | STEROIDOGENESIS | SIGNALING PATHWAYS | MITOTANE | RAS | BIOCHEMISTRY & MOLECULAR BIOLOGY | PD184352 | BRAF | CANCER | CELL BIOLOGY | PROFILE | MUTATIONS | CARCINOMA | Drug therapy | Protein kinases | Tumors | Cell proliferation | Carcinoma | Adrenal glands | Glands | Activation | Malignancy | Kinases | Proteins | Signal transduction | Tumorigenesis | Inhibition | Redox properties | Nervous system diseases | Extracellular signal-regulated kinase | MAP kinase | Cushing's syndrome | Metabolism | Signaling | Adrenocorticotropic hormone | Molecular modelling | Protein kinase | Pituitary | Steroidogenesis | Diagnostic systems | Viability
adrenocortical tumors | cancer treatment | mitogen‐activated protein kinase/extracellular signal‐regulated protein kinases (MAPK/ERK) pathway | adrenocortical carcinoma (ACC) | mitogen-activated protein kinase/extracellular signal-regulated protein kinases (MAPK/ERK) pathway | STEROIDOGENESIS | SIGNALING PATHWAYS | MITOTANE | RAS | BIOCHEMISTRY & MOLECULAR BIOLOGY | PD184352 | BRAF | CANCER | CELL BIOLOGY | PROFILE | MUTATIONS | CARCINOMA | Drug therapy | Protein kinases | Tumors | Cell proliferation | Carcinoma | Adrenal glands | Glands | Activation | Malignancy | Kinases | Proteins | Signal transduction | Tumorigenesis | Inhibition | Redox properties | Nervous system diseases | Extracellular signal-regulated kinase | MAP kinase | Cushing's syndrome | Metabolism | Signaling | Adrenocorticotropic hormone | Molecular modelling | Protein kinase | Pituitary | Steroidogenesis | Diagnostic systems | Viability
Journal Article
European Journal of Endocrinology, ISSN 0804-4643, 10/2014, Volume 171, Issue 4, pp. P1 - P29
Polycystic ovary syndrome (PCOS) is the most common ovarian disorder associated with androgen excess in women, which justifies the growing interest of...
OBSTRUCTIVE SLEEP-APNEA | ENDOCRINOLOGY & METABOLISM | SYMPATHETIC-NERVE ACTIVITY | FOLLICLE-STIMULATING-HORMONE | IMPAIRED GLUCOSE-TOLERANCE | QUALITY-OF-LIFE | TANDEM MASS-SPECTROMETRY | ANTI-MULLERIAN-HORMONE | ANDROGEN RECEPTOR GENE | LOW-DOSE FLUTAMIDE | TYPE-2 DIABETES-MELLITUS | Body Composition | Glucose Intolerance - metabolism | Polycystic Ovary Syndrome - etiology | Cardiovascular Diseases - prevention & control | Humans | Polycystic Ovary Syndrome - diagnosis | Testosterone - metabolism | Polycystic Ovary Syndrome - complications | Glucose Intolerance - etiology | Ultrasonography | Infertility, Female - etiology | Female | Obesity - etiology | Polycystic Ovary Syndrome - psychology | Concept Formation | Ovary - metabolism | Bariatric Surgery | Hypoglycemic Agents - therapeutic use | Cardiovascular Diseases - etiology | Gonadal Steroid Hormones - metabolism | Ovary - pathology | Polycystic Ovary Syndrome - metabolism | Cardiovascular Diseases - metabolism | Risk Reduction Behavior | Obesity - complications | Insulin Resistance | Biomarkers - blood | Infertility, Female - metabolism | Obesity - metabolism | Polycystic Ovary Syndrome - therapy | Phenotype | Obesity - therapy | Ovary - diagnostic imaging | Glucose - metabolism | Quality of Life | Androgens - metabolism | Lipid Peroxidation | Infertility, Female - therapy
OBSTRUCTIVE SLEEP-APNEA | ENDOCRINOLOGY & METABOLISM | SYMPATHETIC-NERVE ACTIVITY | FOLLICLE-STIMULATING-HORMONE | IMPAIRED GLUCOSE-TOLERANCE | QUALITY-OF-LIFE | TANDEM MASS-SPECTROMETRY | ANTI-MULLERIAN-HORMONE | ANDROGEN RECEPTOR GENE | LOW-DOSE FLUTAMIDE | TYPE-2 DIABETES-MELLITUS | Body Composition | Glucose Intolerance - metabolism | Polycystic Ovary Syndrome - etiology | Cardiovascular Diseases - prevention & control | Humans | Polycystic Ovary Syndrome - diagnosis | Testosterone - metabolism | Polycystic Ovary Syndrome - complications | Glucose Intolerance - etiology | Ultrasonography | Infertility, Female - etiology | Female | Obesity - etiology | Polycystic Ovary Syndrome - psychology | Concept Formation | Ovary - metabolism | Bariatric Surgery | Hypoglycemic Agents - therapeutic use | Cardiovascular Diseases - etiology | Gonadal Steroid Hormones - metabolism | Ovary - pathology | Polycystic Ovary Syndrome - metabolism | Cardiovascular Diseases - metabolism | Risk Reduction Behavior | Obesity - complications | Insulin Resistance | Biomarkers - blood | Infertility, Female - metabolism | Obesity - metabolism | Polycystic Ovary Syndrome - therapy | Phenotype | Obesity - therapy | Ovary - diagnostic imaging | Glucose - metabolism | Quality of Life | Androgens - metabolism | Lipid Peroxidation | Infertility, Female - therapy
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 10/2007, Volume 104, Issue 44, pp. 17447 - 17452
Gonadotropin-releasing hormone (GnRH) deficiency in the human presents either as normosmic idiopathic hypogonadotropic hypogonadism (nIHH) or with anosmia...
Sex hormones | Phenotypes | Preoptic area | Neurons | Anosmia | Gonadotropins | Mice | Magnification | Genetic mutation | Hypogonadism | Gonadotropin-releasing hormone deficiency | HETEROGENEITY | SYSTEM | ADHESION | GPR54 | MULTIDISCIPLINARY SCIENCES | gonadotropin-releasing hormone deficiency | PROTEIN-COUPLED RECEPTORS | MICE | IDENTIFICATION | OLFACTORY-BULB NEUROGENESIS | MOLECULES | Humans | Male | Neurons - cytology | Reproduction | Hypogonadism - metabolism | Base Sequence | Gene Deletion | Gastrointestinal Hormones - metabolism | Female | Neurons - metabolism | Neuropeptides - genetics | Hypogonadism - pathology | Neuropeptides - deficiency | Kallmann Syndrome - genetics | Gene Expression Regulation | Gastrointestinal Hormones - deficiency | Genotype | Neuropeptides - metabolism | Mutation - genetics | Mice, Knockout | Hypogonadism - genetics | Kallmann Syndrome - metabolism | Phenotype | Animals | Kallmann Syndrome - pathology | Pedigree | Gastrointestinal Hormones - genetics | Gonadotropin-Releasing Hormone - metabolism | Cell Movement | Protein research | Genetic aspects | Research | Medical genetics | Biological Sciences
Sex hormones | Phenotypes | Preoptic area | Neurons | Anosmia | Gonadotropins | Mice | Magnification | Genetic mutation | Hypogonadism | Gonadotropin-releasing hormone deficiency | HETEROGENEITY | SYSTEM | ADHESION | GPR54 | MULTIDISCIPLINARY SCIENCES | gonadotropin-releasing hormone deficiency | PROTEIN-COUPLED RECEPTORS | MICE | IDENTIFICATION | OLFACTORY-BULB NEUROGENESIS | MOLECULES | Humans | Male | Neurons - cytology | Reproduction | Hypogonadism - metabolism | Base Sequence | Gene Deletion | Gastrointestinal Hormones - metabolism | Female | Neurons - metabolism | Neuropeptides - genetics | Hypogonadism - pathology | Neuropeptides - deficiency | Kallmann Syndrome - genetics | Gene Expression Regulation | Gastrointestinal Hormones - deficiency | Genotype | Neuropeptides - metabolism | Mutation - genetics | Mice, Knockout | Hypogonadism - genetics | Kallmann Syndrome - metabolism | Phenotype | Animals | Kallmann Syndrome - pathology | Pedigree | Gastrointestinal Hormones - genetics | Gonadotropin-Releasing Hormone - metabolism | Cell Movement | Protein research | Genetic aspects | Research | Medical genetics | Biological Sciences
Journal Article
FRONTIERS IN ENDOCRINOLOGY, ISSN 1664-2392, 10/2019, Volume 10
Non-classical congenital adrenal hyperplasia (NC-CAH) representsmild formof CAH with the prevalence of 0. 6 to 9% in women with androgen excess. Clinical and...
POLYCYSTIC-OVARY-SYNDROME | GENOTYPE-PHENOTYPE CORRELATION | ADULT PATIENTS | BONE-MINERAL DENSITY | 21-HYDROXYLASE DEFICIENCY | osteoporosis | PREMATURE ADRENARCHE | BLOOD-PRESSURE | ENDOCRINOLOGY & METABOLISM | stature | EARLY-ONSET | non-classical congenital adrenal hyperplasia | metabolism | cardiovascular risk | glucocorticoids | antiandrogens | obesity | FAT MASS | Genetic disorders | Adrenogenital syndrome
POLYCYSTIC-OVARY-SYNDROME | GENOTYPE-PHENOTYPE CORRELATION | ADULT PATIENTS | BONE-MINERAL DENSITY | 21-HYDROXYLASE DEFICIENCY | osteoporosis | PREMATURE ADRENARCHE | BLOOD-PRESSURE | ENDOCRINOLOGY & METABOLISM | stature | EARLY-ONSET | non-classical congenital adrenal hyperplasia | metabolism | cardiovascular risk | glucocorticoids | antiandrogens | obesity | FAT MASS | Genetic disorders | Adrenogenital syndrome
Journal Article
Endocrine, ISSN 1355-008X, 11/2019, Volume 66, Issue 2, pp. 326 - 337
Clinical outcomes of adrenocortical carcinomas (ACC) could be improved by using novel treatment targets based on the recent advances of tumor biology...
Hallmarks of cancer | Medicine & Public Health | Science, Humanities and Social Sciences, multidisciplinary | IGF2 | Internal Medicine | Adrenocortical tumors | Adrenocortical carcinomas | Diabetes | Endocrinology | Original
Hallmarks of cancer | Medicine & Public Health | Science, Humanities and Social Sciences, multidisciplinary | IGF2 | Internal Medicine | Adrenocortical tumors | Adrenocortical carcinomas | Diabetes | Endocrinology | Original
Journal Article
European Journal of Endocrinology, ISSN 0804-4643, 08/2018, Volume 179, Issue 2, p. R95
Adrenocortical carcinomas (ACCs) are rather rare endocrine tumors that often have a poor prognosis. The reduced survival rate associated with these tumors is...
Cdc2 protein | Insulin-like growth factor receptor 1 | Carcinoma | Aggressive behavior | p53 Protein | Cyclin-dependent kinases | Clinical trials | Insulin | Cyclin-dependent kinase | Molecular modelling | Cyclin B | Medical prognosis | Cell cycle | Cyclin-dependent kinase inhibitors | Tumors
Cdc2 protein | Insulin-like growth factor receptor 1 | Carcinoma | Aggressive behavior | p53 Protein | Cyclin-dependent kinases | Clinical trials | Insulin | Cyclin-dependent kinase | Molecular modelling | Cyclin B | Medical prognosis | Cell cycle | Cyclin-dependent kinase inhibitors | Tumors
Journal Article
European journal of endocrinology, 08/2018, Volume 179, Issue 2, p. R95
Adrenocortical carcinomas (ACCs) are rather rare endocrine tumors that often have a poor prognosis. The reduced survival rate associated with these tumors is...
Prognosis | Humans | Adrenal Cortex - metabolism | Adrenocortical Carcinoma - diagnosis | Neoplasm Proteins - antagonists & inhibitors | Antineoplastic Agents - therapeutic use | Adrenal Cortex - pathology | Neoplasm Proteins - metabolism | Antineoplastic Combined Chemotherapy Protocols - pharmacology | Cell Cycle Proteins - antagonists & inhibitors | Adrenal Cortex Neoplasms - diagnosis | Adrenocortical Carcinoma - pathology | Adrenocortical Carcinoma - drug therapy | Molecular Targeted Therapy - trends | Adrenocortical Carcinoma - metabolism | Cell Cycle Proteins - genetics | Antineoplastic Agents - pharmacology | Adrenal Cortex - drug effects | Neoplasm Proteins - genetics | Adrenal Cortex Neoplasms - metabolism | Cell Cycle Proteins - metabolism | Adrenal Cortex Neoplasms - pathology | Adrenal Cortex Neoplasms - drug therapy | Animals | Antineoplastic Combined Chemotherapy Protocols - therapeutic use | Cell Differentiation - drug effects | Models, Biological | Precision Medicine - trends | Cell Proliferation - drug effects | Mutation | Cell Cycle - drug effects | Practice Guidelines as Topic
Prognosis | Humans | Adrenal Cortex - metabolism | Adrenocortical Carcinoma - diagnosis | Neoplasm Proteins - antagonists & inhibitors | Antineoplastic Agents - therapeutic use | Adrenal Cortex - pathology | Neoplasm Proteins - metabolism | Antineoplastic Combined Chemotherapy Protocols - pharmacology | Cell Cycle Proteins - antagonists & inhibitors | Adrenal Cortex Neoplasms - diagnosis | Adrenocortical Carcinoma - pathology | Adrenocortical Carcinoma - drug therapy | Molecular Targeted Therapy - trends | Adrenocortical Carcinoma - metabolism | Cell Cycle Proteins - genetics | Antineoplastic Agents - pharmacology | Adrenal Cortex - drug effects | Neoplasm Proteins - genetics | Adrenal Cortex Neoplasms - metabolism | Cell Cycle Proteins - metabolism | Adrenal Cortex Neoplasms - pathology | Adrenal Cortex Neoplasms - drug therapy | Animals | Antineoplastic Combined Chemotherapy Protocols - therapeutic use | Cell Differentiation - drug effects | Models, Biological | Precision Medicine - trends | Cell Proliferation - drug effects | Mutation | Cell Cycle - drug effects | Practice Guidelines as Topic
Journal Article
9.
Full Text
Telomerase and N‐Cadherin Differential Importance in Adrenocortical Cancers and Adenomas
Journal of Cellular Biochemistry, ISSN 0730-2312, 08/2017, Volume 118, Issue 8, pp. 2064 - 2071
ABSTRACT Adrenocortical carcinomas (ACC) are most frequently highly aggressive tumors. We assessed the telomerase reverse transcriptase (TERT) and N‐cadherin...
N‐CADHERIN EXPRESSION | TELOMERASE EXPRESSION | TERT PROMOTER MUTATIONS | ADRENOCORTICAL TUMORS | ADRENAL GLAND | N-CADHERIN EXPRESSION | DIAGNOSIS | BIOCHEMISTRY & MOLECULAR BIOLOGY | CELL-ADHESION | ADRENAL-TUMORS | CELL BIOLOGY | RENEWAL | MELANOMA | RECURRENT | EXPRESSION | CARCINOMA | REVEALS | Neoplasms - metabolism | Adenoma - surgery | Cadherins - metabolism | Adenoma - genetics | Neoplasms - surgery | Adrenocortical Carcinoma - surgery | Humans | Gene Expression Regulation, Neoplastic | Ki-67 Antigen - metabolism | Antigens, CD - genetics | Case-Control Studies | Adenoma - metabolism | Antigens, CD - metabolism | Adrenocortical Carcinoma - pathology | Cell Nucleus - metabolism | Telomerase - genetics | Neoplasms - genetics | Adrenocortical Carcinoma - metabolism | Telomerase - metabolism | Cell Membrane - metabolism | Cadherins - genetics | Adrenal Cortex Neoplasms - metabolism | Promoter Regions, Genetic | Adrenocortical Carcinoma - genetics | Adrenal Cortex Neoplasms - surgery | Adrenal Cortex Neoplasms - pathology | Adrenal Cortex Neoplasms - genetics | Ki-67 Antigen - genetics | Telomerase | Cancer | Immunohistochemistry | Membranes | Nervous system diseases | Carcinoma | Telomerase reverse transcriptase | RNA-directed DNA polymerase | Adrenal glands | Glands | Adrenal cortex | Benign | Cadherin | Cell adhesion & migration | Polymerase chain reaction | Adrenocorticotropic hormone | N-Cadherin | Pituitary | Cell adhesion | Diagnostic software | Biomarkers | Diagnostic systems | Mutation | Lesions | Tumors
N‐CADHERIN EXPRESSION | TELOMERASE EXPRESSION | TERT PROMOTER MUTATIONS | ADRENOCORTICAL TUMORS | ADRENAL GLAND | N-CADHERIN EXPRESSION | DIAGNOSIS | BIOCHEMISTRY & MOLECULAR BIOLOGY | CELL-ADHESION | ADRENAL-TUMORS | CELL BIOLOGY | RENEWAL | MELANOMA | RECURRENT | EXPRESSION | CARCINOMA | REVEALS | Neoplasms - metabolism | Adenoma - surgery | Cadherins - metabolism | Adenoma - genetics | Neoplasms - surgery | Adrenocortical Carcinoma - surgery | Humans | Gene Expression Regulation, Neoplastic | Ki-67 Antigen - metabolism | Antigens, CD - genetics | Case-Control Studies | Adenoma - metabolism | Antigens, CD - metabolism | Adrenocortical Carcinoma - pathology | Cell Nucleus - metabolism | Telomerase - genetics | Neoplasms - genetics | Adrenocortical Carcinoma - metabolism | Telomerase - metabolism | Cell Membrane - metabolism | Cadherins - genetics | Adrenal Cortex Neoplasms - metabolism | Promoter Regions, Genetic | Adrenocortical Carcinoma - genetics | Adrenal Cortex Neoplasms - surgery | Adrenal Cortex Neoplasms - pathology | Adrenal Cortex Neoplasms - genetics | Ki-67 Antigen - genetics | Telomerase | Cancer | Immunohistochemistry | Membranes | Nervous system diseases | Carcinoma | Telomerase reverse transcriptase | RNA-directed DNA polymerase | Adrenal glands | Glands | Adrenal cortex | Benign | Cadherin | Cell adhesion & migration | Polymerase chain reaction | Adrenocorticotropic hormone | N-Cadherin | Pituitary | Cell adhesion | Diagnostic software | Biomarkers | Diagnostic systems | Mutation | Lesions | Tumors
Journal Article
10/2012, Frontiers of Hormone Research, ISBN 9783318022384, Volume 40, 13
Non-classic adrenal hyperplasia (NCAH) is a disease in which a partial deficiency of the steroidogenic enzyme 21-hydroxylase produces mild to moderate...
Chapter | Cardiovascular Diseases - etiology | Diagnosis, Differential | Glucocorticoids - therapeutic use | Adrenal Hyperplasia, Congenital - drug therapy | Obesity - complications | Humans | Risk Factors | Insulin Resistance | 17-alpha-Hydroxyprogesterone - blood | Polycystic Ovary Syndrome - diagnosis | Hirsutism - etiology | Oligomenorrhea - etiology | Adrenal Hyperplasia, Congenital - diagnosis | Steroid 21-Hydroxylase - genetics | Infertility, Female - etiology | Female | Heterozygote | Adrenocorticotropic Hormone
Chapter | Cardiovascular Diseases - etiology | Diagnosis, Differential | Glucocorticoids - therapeutic use | Adrenal Hyperplasia, Congenital - drug therapy | Obesity - complications | Humans | Risk Factors | Insulin Resistance | 17-alpha-Hydroxyprogesterone - blood | Polycystic Ovary Syndrome - diagnosis | Hirsutism - etiology | Oligomenorrhea - etiology | Adrenal Hyperplasia, Congenital - diagnosis | Steroid 21-Hydroxylase - genetics | Infertility, Female - etiology | Female | Heterozygote | Adrenocorticotropic Hormone
Book Chapter
Genetics in Medicine, ISSN 1098-3600, 08/2018, Volume 20, Issue 8, pp. 872 - 881
Purpose: Congenital hypogonadotropic hypogonadism (CHH), a rare genetic disease caused by gonadotropin-releasing hormone deficiency, can also be part of...
CHARGE syndrome | congenital hypogonadotropic hypogonadism | chromodomain helicase DNA binding protein 7 | Kallmann syndrome | MISSENSE | GONADOTROPIN-RELEASING-HORMONE | GUIDELINES | PHENOTYPES | PROPOSAL | DEFICIENCY | INDIVIDUALS | GENETICS & HEREDITY | KALLMANN-SYNDROME | MUTATIONS | DIAGNOSTIC-CRITERIA | Genetic Association Studies | Humans | Male | CHARGE Syndrome - diagnosis | DNA-Binding Proteins - genetics | Sequence Analysis, DNA | DNA-Binding Proteins - metabolism | Hypogonadism - genetics | DNA Helicases - metabolism | Phenotype | Pedigree | Family | Female | Heterozygote | CHARGE Syndrome - genetics | Genetic Variation - genetics | Mutation | DNA Helicases - genetics
CHARGE syndrome | congenital hypogonadotropic hypogonadism | chromodomain helicase DNA binding protein 7 | Kallmann syndrome | MISSENSE | GONADOTROPIN-RELEASING-HORMONE | GUIDELINES | PHENOTYPES | PROPOSAL | DEFICIENCY | INDIVIDUALS | GENETICS & HEREDITY | KALLMANN-SYNDROME | MUTATIONS | DIAGNOSTIC-CRITERIA | Genetic Association Studies | Humans | Male | CHARGE Syndrome - diagnosis | DNA-Binding Proteins - genetics | Sequence Analysis, DNA | DNA-Binding Proteins - metabolism | Hypogonadism - genetics | DNA Helicases - metabolism | Phenotype | Pedigree | Family | Female | Heterozygote | CHARGE Syndrome - genetics | Genetic Variation - genetics | Mutation | DNA Helicases - genetics
Journal Article
FRONTIERS IN ENDOCRINOLOGY, ISSN 1664-2392, 07/2019, Volume 10, p. 432
The deficiency of 21-hydroxylase due to CYP21A2 pathogenic variants is a rather frequent disease with serious consequences, going from a real mortality risk to...
endocrine genetics | RARE CYP21A2 MUTATIONS | genotyping | BRAZILIAN PATIENTS | MAJOR HISTOCOMPATIBILITY COMPLEX | HUMAN STEROID 21-HYDROXYLASE | adrenal cortex | MISSENSE MUTATIONS | MOLECULAR ANALYSIS | rare diseases | CHIMERIC CYP21P/CYP21 GENE | POINT MUTATIONS | CAH -congenital adrenal hyperplasia | POLYMERASE-CHAIN-REACTION | 21OH deficiency | ENDOCRINOLOGY & METABOLISM | disorders of sex development | androgen excess syndromes | PRENATAL-DIAGNOSIS | Analysis | Infertility | Adrenogenital syndrome | Adrenal gland diseases | Genotype | Genetic aspects | Research | Risk factors | Care and treatment | Self-esteem | Genetic disorders | Diagnosis | CAH—congenital adrenal hyperplasia
endocrine genetics | RARE CYP21A2 MUTATIONS | genotyping | BRAZILIAN PATIENTS | MAJOR HISTOCOMPATIBILITY COMPLEX | HUMAN STEROID 21-HYDROXYLASE | adrenal cortex | MISSENSE MUTATIONS | MOLECULAR ANALYSIS | rare diseases | CHIMERIC CYP21P/CYP21 GENE | POINT MUTATIONS | CAH -congenital adrenal hyperplasia | POLYMERASE-CHAIN-REACTION | 21OH deficiency | ENDOCRINOLOGY & METABOLISM | disorders of sex development | androgen excess syndromes | PRENATAL-DIAGNOSIS | Analysis | Infertility | Adrenogenital syndrome | Adrenal gland diseases | Genotype | Genetic aspects | Research | Risk factors | Care and treatment | Self-esteem | Genetic disorders | Diagnosis | CAH—congenital adrenal hyperplasia
Journal Article
European journal of endocrinology, ISSN 0804-4643, 08/2018, Volume 179, Issue 2, pp. R95 - R110
Adrenocortical carcinomas (ACCs) are rather rare endocrine tumors that often have a poor prognosis. The reduced survival rate associated with these tumors is...
P53 MUTATIONS | KINASE PLK EXPRESSION | LI-FRAUMENI-SYNDROME | MOLECULAR MARKERS | TOPOISOMERASE-II-ALPHA | ENDOCRINOLOGY & METABOLISM | GENE-EXPRESSION | ADRENAL-TUMORS | PROGNOSTIC-SIGNIFICANCE | COMPARATIVE GENOMIC HYBRIDIZATION | TRANSCRIPTOME ANALYSIS
P53 MUTATIONS | KINASE PLK EXPRESSION | LI-FRAUMENI-SYNDROME | MOLECULAR MARKERS | TOPOISOMERASE-II-ALPHA | ENDOCRINOLOGY & METABOLISM | GENE-EXPRESSION | ADRENAL-TUMORS | PROGNOSTIC-SIGNIFICANCE | COMPARATIVE GENOMIC HYBRIDIZATION | TRANSCRIPTOME ANALYSIS
Journal Article
09/2019, Frontiers of Hormone Research, ISBN 9783318064704, Volume 53, 12
Congenital Adrenal Hyperplasias (CAH) are genetic diseases transmitted in an autosomal recessive way and these diseases affect many aspects of human health....
Chapter
Chapter
Book Chapter
Fertility and Sterility, ISSN 0015-0282, 2015, Volume 104, Issue 5, pp. 1261 - 1267.e1
Objective To determine the prevalence of fibroblast growth factor receptor 1 ( FGFR1 ) mutations and their predicted functional consequences in patients with...
Internal Medicine | Obstetrics and Gynecology | Hypogonadotropic hypogonadism | genetics | Kallmann syndrome | FGFR1 | KAL2 | SITE | HORMONE DEFICIENCY | GENETIC-BASIS | DOMAIN | FACTOR RECEPTOR 1 | PHENOTYPES | OBSTETRICS & GYNECOLOGY | REPRODUCTIVE BIOLOGY | EXPRESSION | Alternative Splicing | Exons | Humans | Receptor, Fibroblast Growth Factor, Type 1 - metabolism | Databases, Genetic | Male | Structure-Activity Relationship | Mutation, Missense | Receptor, Fibroblast Growth Factor, Type 1 - genetics | Young Adult | DNA Mutational Analysis | Hypogonadism - metabolism | Computer Simulation | Adult | Female | Hypogonadism - diagnosis | Genetic Predisposition to Disease | Cross-Sectional Studies | Kallmann Syndrome - genetics | Gene Frequency | Hypogonadism - genetics | Kallmann Syndrome - metabolism | Adolescent | Kallmann Syndrome - diagnosis | Protein Conformation | Receptor, Fibroblast Growth Factor, Type 1 - chemistry | Genetic aspects | Fibroblast growth factors | Hypogonadism
Internal Medicine | Obstetrics and Gynecology | Hypogonadotropic hypogonadism | genetics | Kallmann syndrome | FGFR1 | KAL2 | SITE | HORMONE DEFICIENCY | GENETIC-BASIS | DOMAIN | FACTOR RECEPTOR 1 | PHENOTYPES | OBSTETRICS & GYNECOLOGY | REPRODUCTIVE BIOLOGY | EXPRESSION | Alternative Splicing | Exons | Humans | Receptor, Fibroblast Growth Factor, Type 1 - metabolism | Databases, Genetic | Male | Structure-Activity Relationship | Mutation, Missense | Receptor, Fibroblast Growth Factor, Type 1 - genetics | Young Adult | DNA Mutational Analysis | Hypogonadism - metabolism | Computer Simulation | Adult | Female | Hypogonadism - diagnosis | Genetic Predisposition to Disease | Cross-Sectional Studies | Kallmann Syndrome - genetics | Gene Frequency | Hypogonadism - genetics | Kallmann Syndrome - metabolism | Adolescent | Kallmann Syndrome - diagnosis | Protein Conformation | Receptor, Fibroblast Growth Factor, Type 1 - chemistry | Genetic aspects | Fibroblast growth factors | Hypogonadism
Journal Article
Pathology & Oncology Research, ISSN 1219-4956, 7/2018, Volume 24, Issue 3, pp. 689 - 693
Adrenocortical tumors (ACT) are common adrenal tumors. The majority of ACTs are non-functioning and benign, while adrenocortical carcinomas (ACC) are rare,...
Biomedicine, general | Pathology | Angiogenesis | Biomedicine | Immunology | Adrenocortical carcinoma | Cancer Research | Oncology | Adrenocortical tumors | Lymphangiogenesis | DENSITY | ONCOLOGY | PATHOLOGY | CARCINOMA | EXPRESSION | Prognosis | Adrenal Cortex Neoplasms - blood supply | Humans | Adrenocortical Carcinoma - blood supply | Adrenal Cortex Neoplasms - pathology | Adenoma - metabolism | Neovascularization, Pathologic - pathology | Adrenocortical Carcinoma - pathology | Adrenocortical Carcinoma - metabolism | Adenoma - pathology | Biomarkers, Tumor - metabolism | Adenoma - blood supply | Neovascularization, Pathologic - metabolism | Adrenal Cortex Neoplasms - metabolism | Immunohistochemistry | Viral antibodies | Antibodies | Analysis | Cancer | Blood proteins | Nervous system diseases | Carcinoma | Blood vessels | Malignancy | Steroidogenic acute regulatory protein | Blood | Proteins | Adrenocorticotropic hormone | Pituitary | Microvasculature | Tumors | Lymph
Biomedicine, general | Pathology | Angiogenesis | Biomedicine | Immunology | Adrenocortical carcinoma | Cancer Research | Oncology | Adrenocortical tumors | Lymphangiogenesis | DENSITY | ONCOLOGY | PATHOLOGY | CARCINOMA | EXPRESSION | Prognosis | Adrenal Cortex Neoplasms - blood supply | Humans | Adrenocortical Carcinoma - blood supply | Adrenal Cortex Neoplasms - pathology | Adenoma - metabolism | Neovascularization, Pathologic - pathology | Adrenocortical Carcinoma - pathology | Adrenocortical Carcinoma - metabolism | Adenoma - pathology | Biomarkers, Tumor - metabolism | Adenoma - blood supply | Neovascularization, Pathologic - metabolism | Adrenal Cortex Neoplasms - metabolism | Immunohistochemistry | Viral antibodies | Antibodies | Analysis | Cancer | Blood proteins | Nervous system diseases | Carcinoma | Blood vessels | Malignancy | Steroidogenic acute regulatory protein | Blood | Proteins | Adrenocorticotropic hormone | Pituitary | Microvasculature | Tumors | Lymph
Journal Article
Journal of Endocrinology, ISSN 0022-0795, 10/2006, Volume 191, Issue 1, pp. 301 - 308
Normal pubertal development in humans involves two distinct processes: maturation of adrenal androgen secretion (adrenarche) and activation of the...
PLASMA-LEVELS | ZONA RETICULARIS CELLS | DEVELOPMENTALLY-REGULATED EXPRESSION | DEHYDROEPIANDROSTERONE SULFATE | ENDOCRINOLOGY & METABOLISM | ANDROGEN PRODUCTION | PUBERTAL DEVELOPMENT | PRECOCIOUS PUBERTY | STIMULATES TESTICULAR STEROIDOGENESIS | HORMONAL CHANGES | LUTEINIZING-HORMONE | Androgens - physiology | Body Weight | Rats, Wistar | Growth | Androstenedione - blood | Organ Size | Rats | Male | 17-alpha-Hydroxyprogesterone - blood | Zona Reticularis - metabolism | Adrenal Cortex Hormones - physiology | Reverse Transcriptase Polymerase Chain Reaction | Steroid 17-alpha-Hydroxylase - analysis | Zona Reticularis - growth & development | Animals | Adrenal Glands - metabolism | Adrenarche - physiology | Female | Steroid 17-alpha-Hydroxylase - metabolism | Testosterone - blood | Adrenal Glands - growth & development | Corticosterone - secretion | Hydrocortisone - blood | Sexual Maturation
PLASMA-LEVELS | ZONA RETICULARIS CELLS | DEVELOPMENTALLY-REGULATED EXPRESSION | DEHYDROEPIANDROSTERONE SULFATE | ENDOCRINOLOGY & METABOLISM | ANDROGEN PRODUCTION | PUBERTAL DEVELOPMENT | PRECOCIOUS PUBERTY | STIMULATES TESTICULAR STEROIDOGENESIS | HORMONAL CHANGES | LUTEINIZING-HORMONE | Androgens - physiology | Body Weight | Rats, Wistar | Growth | Androstenedione - blood | Organ Size | Rats | Male | 17-alpha-Hydroxyprogesterone - blood | Zona Reticularis - metabolism | Adrenal Cortex Hormones - physiology | Reverse Transcriptase Polymerase Chain Reaction | Steroid 17-alpha-Hydroxylase - analysis | Zona Reticularis - growth & development | Animals | Adrenal Glands - metabolism | Adrenarche - physiology | Female | Steroid 17-alpha-Hydroxylase - metabolism | Testosterone - blood | Adrenal Glands - growth & development | Corticosterone - secretion | Hydrocortisone - blood | Sexual Maturation
Journal Article