17-ketosteroids and Intellectual-Disability

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Age Determination by Skeleton; Anthropometry; Body Height; Body Weight; Child; Dermatoglyphics; Facial Expression; Female; Gigantism; Glucose Tolerance Test; Humans; Insulin; Intellectual Disability; Male; Metyrapone; Neurologic Manifestations; Pituitary-Adrenal Function Tests; Psychological Tests; Voice

Topics: 17-Ketosteroids; Adolescent; Age Factors; Child; Endocrine Glands; Estrogens; Growth Disorders; Humans; Intellectual Disability

Two brothers showed ichthyosis, bilateral cryptorchidism, hypogenitalism and mental retardation. In addition, the younger brother had short stature associated with disorders of secretions of insulin, ACTH and GH. This is the third reported case of the syndrome of ichthyosis and hypogonadism.

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Child, Preschool; Cryptorchidism; Follicle Stimulating Hormone; Growth Disorders; Growth Hormone; Humans; Hypogonadism; Ichthyosis; Insulin; Intellectual Disability; Luteinizing Hormone; Male; Thyrotropin

Sexual development was evaluated in 9 female and 2 male subjects with Prader-Willi syndrome. The process of sexual development and degree of genital development attained were found to be variable but abnormal in all subjects. Hypothalamic-pituitary-gonadal functions were evaluated by measurement of serum Luteinizing Hormone and plasma testosterone responses to stimulation by clomiphene citrate and plasma testosterone responses to stimulation by human chorionic gonadotrophin. The degree of vaginal estrogenization was variable. The testicular biopsies showed abnormalities mainly in the germinal epithelium. In agreement with previous studies, it was concluded that the abnormalities of sexual development in this syndrome are mainly due to a defect in the hypothalamic pituitary axis. Adrenal function was not found to be grossly abnormal. The 17 ketosteroid excretion values were low, probably explaining the rather sparse pubic and axillary hair observed in these patients. The urinary 17-hydroxycorticosteroid creatinine ratios were found to be elevated, probably due to decreased creatinine excretion, reflecting the muscular abnormalities of these subjects.

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adolescent; Adrenocorticotropic Hormone; Adult; Carbohydrate Metabolism, Inborn Errors; Child; Clomiphene; Creatinine; Female; Humans; Hypogonadism; Intellectual Disability; Luteinizing Hormone; Male; Menarche; Metyrapone; Obesity; Syndrome; Testis; Testosterone; Wechsler Scales

Topics: 17-Ketosteroids; Adolescent; Adult; Chorionic Gonadotropin; Color Vision Defects; Eunuchism; Humans; Hypogonadism; Insulin; Intellectual Disability; Male; Olfaction Disorders; Pedigree; Testosterone

Topics: 17-Ketosteroids; Adolescent; Adult; Carbohydrate Metabolism, Inborn Errors; Chorionic Gonadotropin; Clomiphene; Estradiol; Female; Follicle Stimulating Hormone; Glucose Tolerance Test; Gonadotropin-Releasing Hormone; Growth Hormone; Humans; Hydrocortisone; Hypothalamo-Hypophyseal System; Intellectual Disability; Iodine Radioisotopes; Luteinizing Hormone; Male; Metyrapone; Obesity; Pituitary Gland; Pituitary Gland, Anterior; Prolactin; Radioimmunoassay; Syndrome; Testosterone; Tetrahydrocortisol; Tetrahydrocortisone; Thyrotropin

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adolescent; Adult; Biopsy; Cytogenetics; Female; Germ Cells; Humans; Intellectual Disability; Intelligence Tests; Klinefelter Syndrome; Male; Maternal Age; Puberty; Testis

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Aldosterone; Cerebellar Ataxia; Child; Chorionic Gonadotropin; Electromyography; Follicle Stimulating Hormone; Growth Hormone; Hearing Disorders; Humans; Hydrocortisone; Intellectual Disability; Luteinizing Hormone; Male; Nerve Degeneration; Neural Conduction; Pedigree; Syndrome; Testosterone

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adolescent; Adrenocorticotropic Hormone; Adult; Blood Glucose; Child; Estrogens; Gonadotropins; Growth Disorders; Hepatomegaly; Humans; Hydrocortisone; Hypoglycemia; Hypogonadism; Intellectual Disability; Liver Diseases, Parasitic; Liver Function Tests; Male; Middle Aged; Nutrition Disorders; Pituitary-Adrenal Function Tests; Pituitary-Adrenal System; Schistosomiasis; Splenomegaly; Stimulation, Chemical

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Abnormalities, Multiple; Body Height; Body Weight; Child; Estrogens; Female; Gonadotropins; Growth Disorders; Growth Hormone; Humans; Hypogonadism; Intellectual Disability; Metyrapone; Obesity; Puberty, Precocious

Topics: 17-Ketosteroids; Body Weight; Chromosome Aberrations; Cytogenetics; Dermatoglyphics; Estrogens; Gynecomastia; Humans; Intellectual Disability; Karyotyping; Klinefelter Syndrome; Male; Mosaicism; Puberty

Topics: 17-Ketosteroids; Adult; Androgen-Insensitivity Syndrome; Body Weight; Castration; Cell Nucleus; Color Vision Defects; Creatinine; Dihydrotestosterone; Estrogens; Eunuchism; Humans; Hypogonadism; Intellectual Disability; Male; Nitrogen; Olfaction Disorders; Phosphates; Receptors, Drug; Sex Chromosome Aberrations; Stimulation, Chemical; Testosterone

Topics: 17-Ketosteroids; Adolescent; Adult; Color Vision Defects; Disorders of Sex Development; Eunuchism; Follicle Stimulating Hormone; Gynecomastia; Humans; Hypogonadism; Hypospadias; Infertility, Male; Intellectual Disability; Male; Olfaction Disorders; Phenotype; Sex Chromosome Aberrations; Testicular Diseases

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Acrocephalosyndactylia; Adolescent; Adult; Cephalometry; Female; Gonadotropins; Humans; Hydrocortisone; Intellectual Disability; Male; Middle Aged; Osteoarthropathy, Primary Hypertrophic; Pituitary-Adrenal Function Tests; Pneumoencephalography; Skull; Tuberous Sclerosis

Topics: 17-Ketosteroids; Dermatoglyphics; Electroencephalography; Gigantism; Humans; Intellectual Disability; Puberty, Precocious; Seizures; Voice

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Body Constitution; Brain; Calcium; Cerebral Ventriculography; Child; Child, Preschool; Female; Gigantism; Glucose Tolerance Test; Gonadotropins; Growth Hormone; Humans; Hydrocephalus; Infant; Intellectual Disability; Karyotyping; Male; Phosphorus; Thyroid Function Tests

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Amino Acid Metabolism, Inborn Errors; Autoanalysis; Biological Transport; Child; Copper; Creatine; Creatinine; Female; Humans; Intellectual Disability; Iron; Kidney Tubules; Renal Aminoacidurias; Xeroderma Pigmentosum

Topics: 17-Ketosteroids; Adrenal Cortex Hormones; Adrenocortical Hyperfunction; Androsterone; Blood Protein Disorders; Chemistry, Clinical; Chromatography, Gel; Dehydroepiandrosterone; Diabetes Complications; Diabetes Mellitus; Etiocholanolone; Family; Female; Genital Diseases, Male; Hemophilia A; Humans; Intellectual Disability; Male; Pregnanetriol; Protein Binding; Transcortin

Topics: 17-Ketosteroids; Adolescent; Gonadotropins; Humans; Hypospadias; Intellectual Disability; Karyotyping; Klinefelter Syndrome; Male; Sex Chromatin; Testosterone

Topics: 17-Ketosteroids; Adolescent; Adult; Age Factors; Blood Group Antigens; Bone and Bones; Carbohydrate Metabolism, Inborn Errors; Child; Child, Preschool; Chromosome Aberrations; Chromosome Disorders; Dental Caries Susceptibility; Dermatoglyphics; Diet, Reducing; Electroencephalography; Electromyography; Female; Glucose Tolerance Test; Humans; Hypothalamus; Infant; Infant, Newborn; Intellectual Disability; Karyotyping; Language Development; Male; Metabolism, Inborn Errors; Obesity; Phenmetrazine; Prediabetic State; Pregnancy; Radiography; Sex Factors

Topics: 17-Ketosteroids; Abnormalities, Multiple; Adolescent; Humans; Hypopituitarism; Intellectual Disability; Karyotyping; Leydig Cells; Male; Obesity; Penis; Scrotum; Sex Chromatin; Sex Determination Analysis; Testis; Voice

Topics: 17-Ketosteroids; Acromegaly; Age Determination by Skeleton; Cerebral Ventricles; Child; Female; Gigantism; Humans; Hypothalamus; Intellectual Disability; Karyotyping; Male; Skull

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adolescent; Adrenocortical Hyperfunction; Adult; Ataxia; Child; Child, Preschool; Dwarfism; Gonads; Humans; Intellectual Disability; Myxedema; Obesity; Puberty, Precocious

Topics: 17-Ketosteroids; Adolescent; Anabolic Agents; Chorionic Gonadotropin; Growth; Humans; Intellectual Disability; Male; Psychotic Disorders; Testosterone; Urine

Topics: 17-Ketosteroids; Adolescent; Child; Chromosome Aberrations; Chromosome Disorders; Cytogenetic Analysis; Estrogens; Female; Glucosephosphate Dehydrogenase; Gonadotropins; Gonadotropins, Pituitary; Humans; Intellectual Disability; Leukocytes; Pituitary Gland; Sex Chromosomes; Urine

Topics: 17-Ketosteroids; Acromegaly; Adrenal Cortex Hormones; Castration; Cerebral Palsy; Chromatography; Congenital Abnormalities; Consanguinity; Epidemiology; Epilepsy; Epilepsy, Tonic-Clonic; Eye; Gonadotropins; Humans; Hypophysectomy; Intellectual Disability; Scalp; Scalp Dermatoses; Sex Chromatin; Sweden; Urine

Topics: 17-Ketosteroids; Adolescent; Biomedical Research; Child; Gonadotropins; Humans; Intellectual Disability; Iodine Isotopes; Klinefelter Syndrome; Metabolism; Radioisotopes; Radionuclide Imaging; Schizophrenia; Sex Chromosome Aberrations; Sex Chromosome Disorders; Thyroid Function Tests; Thyroid Gland; Thyrotropin; Urine

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adolescent; Aging; Androsterone; Biomedical Research; Blood Sedimentation; Castration; Dehydroepiandrosterone; Etiocholanolone; Eunuchism; Hematocrit; Hemoglobins; Humans; Intellectual Disability; Male; Orchiectomy; Physiology; Testis; Testosterone; Urine

Topics: 17-Ketosteroids; Adolescent; Adrenal Cortex Hormones; Arm; Blood Group Antigens; Chromosome Aberrations; Chromosome Disorders; Chromosomes, Human, Pair 18; Estrogens; Gonadotropins; Gonadotropins, Pituitary; Haptoglobins; Humans; Intellectual Disability; Transferrin; Urine

Topics: 17-Ketosteroids; Adolescent; Child; Humans; Incest; Intellectual Disability; Paraphilic Disorders; Social Conditions

Topics: 17-Ketosteroids; Anatomy; Androsterone; Chorionic Gonadotropin; Dehydroepiandrosterone; Genitalia; Genitalia, Male; Gonadotropins; Humans; Intellectual Disability; Male; Persons with Mental Disabilities

Topics: 17-Ketosteroids; Adrenal Cortex Hormones; Adrenal Glands; Adrenocorticotropic Hormone; Blood Chemical Analysis; Carbon Dioxide; Child; Chlorides; Chromosome Aberrations; Chromosome Disorders; Congenital Abnormalities; De Lange Syndrome; Humans; Infant; Intellectual Disability; Pathology; Pituitary Gland; Potassium; Skull; Sodium; Thyroid Gland; Urea; Urine

Topics: 17-Ketosteroids; Adolescent; Biomedical Research; Blood Cell Count; Child; Child Behavior Disorders; Drug Therapy; Electroencephalography; Humans; Intellectual Disability; Liver Function Tests; Nialamide; Pituitary-Adrenal Function Tests; Placebos; Psychological Tests; Thyroid Function Tests; Urine

Topics: 17-Ketosteroids; Body Fluids; Body Weight; Body Weights and Measures; Down Syndrome; Intellectual Disability; Steroids

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adrenal Cortex Hormones; Body Fluids; Castration; Hormones; Humans; Intellectual Disability; Male; Orchiectomy

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Asian People; Body Fluids; Down Syndrome; Humans; Hydrogen-Ion Concentration; Intellectual Disability; Male

Topics: 17-Ketosteroids; Down Syndrome; Endocrinology; Humans; Intellectual Disability; Male; Testis

Topics: 17-Ketosteroids; Child; Endocrine Glands; Epilepsy; Humans; Infant; Intellectual Disability; Neurotic Disorders; Steroids; Urine

Topics: 17-Ketosteroids; Autopsy; Body Fluids; Intellectual Disability; Steroids; Urine