pituitrin and Intellectual-Disability

Copeptin concentrations are a useful component of the diagnostic workup of paediatric patients with polyuria and polydipsia, but the value of measuring copeptin in patients with hyponatraemia is less clear.. We report 5 children with hyponatraemia in the context of different underlying pathologies. Copeptin concentrations were elevated in 4 cases (13.7, 14.4, 26.1, and 233 pmol/L; reference range 2.4-8.6 pmol/L), suggesting that non-osmoregulated vasopressin release (syndrome of inappropriate antidiuretic hormone) was the underlying mechanism for low sodium levels. In one of the patients, there was an underlying diagnosis of Schaaf-Yang syndrome (MAGEL2 gene mutation) with a clinical picture suggestive of dysregulated vasopressin production with inappropriately high and then low copeptin release. In one hyponatraemic patient, low copeptin concentrations indicated that non-osmoregulated arginine vasopressin release was not the cause of hyponatraemia and oliguria.. Copeptin measurement did not influence management acutely but helped to clarify the mechanism leading to hyponatraemia when the result was available. Relatively high and low copeptin concentrations in association with hypo- and hypernatraemia indicate dysregulated vasopressin production in Schaaf-Yang syndrome.

Topics: Arthrogryposis; Child; Craniofacial Abnormalities; Female; Glycopeptides; Humans; Hyponatremia; Hypopituitarism; Intellectual Disability; Male; Polydipsia; Proteins; Vasopressins

An anxious-retarded subtype of depression has been derived from the DSM-IV category of melancholia. It is defined by combined high scores for anxiety and retardation, and is related to family history of depression and increased plasma vasopressin (AVP) levels. Central problems concerning this hypothesized subcategory are whether elevated plasma AVP is related to family history, whether it would be better operationalized by a cut-off level for plasma AVP than as continuous variable, and whether the anxious-retarded phenotype would be better described in terms that account for full variability of mixed anxiety and retardation. A previous study suggested that above-normal plasma AVP was a more useful endophenotypic parameter than plasma AVP as a continuous variable. To answer these and related questions, 81 patients were investigated. Receiver Operating Characteristic analyses yielded a cut-off value of 5.56 pg/ml for above-normal plasma AVP, log-transformed plasma AVP (ln (AVP)) was used as continuous variable, and the correlation between anxiety and retardation was used to account for full variability of the anxious-retarded phenotype. Family history was related to above-normal plasma AVP (n = 16) and non-significantly to ln (AVP). Depression with above-normal plasma AVP, as well as familial depression with above-normal plasma AVP, showed a high correlation between anxiety and retardation, and this correlation was significantly higher than that found in the depressed patient control groups. The data support the delimitation of a largely familial depression with above-normal plasma AVP, vasopressinergic activation of the hypothalamus-pituitary-adrenal axis and a variable anxious-retarded phenotype.

Topics: Adult; Anxiety Disorders; Depressive Disorder, Major; Diagnostic and Statistical Manual of Mental Disorders; Female; Humans; Hydrocortisone; Hypothalamo-Hypophyseal System; Intellectual Disability; Male; Middle Aged; Phenotype; Pituitary-Adrenal System; Surveys and Questionnaires; Vasopressins

An adolescent boy with essential hypernatremia, absent corpus callosum, mental retardation, hypodipsia, and partial diabetes insipidus with "inappropriate" ADH regulation and secretion was studied regarding factors controlling ADH and neurophysin release. Persistent hyperosmolality was noted while on 100 mEq sodium intake daily. Endogenous vasopressin activity was demonstrated after prolonged water deprivation. Hypertonic saline infusion produced increased volumes but dilute urine. Aqueous pitressin increased urinary osmolality, decreased serum osmolality, urine flow rate, and free water clearance. Stable water diuresis was induced by water loading and on normal saline infusion. Nicotine-stimulated neurophysin remained unexpectedly low and below the level of detectability when sampled during the physiologic studies, whereas oestrogen-stimulated neurophysin was elevated during oestrogen stimulation, water loading, and orthostasis procedures. Plasma vasopressin was suppressed with water loading but remained suppressed 90 min after tilt table testing. These data indicate impairment of the osmoreceptor mechanism: however, since the patient had a normal response of oestrogen-stimulated neurophysin, that part of the neurohypophysis appears intact. Chlorpropamide was effective in alleviating the hyperosmolar state acutely and maintained normal osmolar concentrations during two years of therapy.

Topics: Adolescent; Chlorpropamide; Diabetes Insipidus; Diuresis; Electrolytes; Fluid Therapy; Humans; Hypernatremia; Intellectual Disability; Male; Neurophysins; Osmolar Concentration; Posture; Saline Solution, Hypertonic; Vasopressins; Water

Topics: Adolescent; Adrenocorticotropic Hormone; Adult; Age Determination by Skeleton; Cerebral Ventricles; Child; Circadian Rhythm; Female; Growth; Growth Hormone; Humans; Hydrocortisone; Hypothalamus; Insulin; Intellectual Disability; Male; Sexual Maturation; Thyroxine; Vasopressins

Topics: Adolescent; Carbohydrate Metabolism, Inborn Errors; Chorionic Gonadotropin; Deficiency Diseases; Gonadotropin-Releasing Hormone; Growth Hormone; Humans; Hydroxysteroids; Hypogonadism; Intellectual Disability; Luteinizing Hormone; Male; Obesity; Pituitary Diseases; Syndrome; Testosterone; Thyrotropin; Vasopressins

Topics: Adrenal Glands; Adrenal Insufficiency; Blindness; Bradycardia; Brain; Electrolytes; Female; Glucagon; Glucose; Glucose Tolerance Test; Growth Hormone; Humans; Hypoglycemia; Hypopituitarism; Infant; Infant, Newborn; Infant, Newborn, Diseases; Insulin; Intellectual Disability; Male; Pituitary Gland; Seizures; Vasopressins

Topics: Amino Acid Metabolism, Inborn Errors; Aspartic Acid; Bipolar Disorder; Catatonia; Circadian Rhythm; Cysteine; Humans; Intellectual Disability; Lithium; Mass Spectrometry; Mental Disorders; Metabolism, Inborn Errors; Periodicity; Phenylketonurias; Sleep; Vasopressins

Topics: Adolescent; Albumins; Body Water; Chronic Disease; Circadian Rhythm; Dehydration; Diabetes Insipidus; Glucose Tolerance Test; Humans; Hypernatremia; Hypogonadism; Hypothalamus; Intellectual Disability; Kidney Diseases; Male; Obesity; Polyuria; Renin; Sodium; Thirst; Vasopressins

Topics: Adult; Anticonvulsants; Calcium; Chlorides; Chronic Disease; Creatinine; Epilepsy; Female; Humans; Intellectual Disability; Male; Mass Screening; Metabolic Clearance Rate; Middle Aged; Osmolar Concentration; Phenobarbital; Phenytoin; Potassium; Sodium; Specific Gravity; Time Factors; Urea; Urine; Vasopressins; Water-Electrolyte Balance

Topics: Bendroflumethiazide; Child; Diabetes Insipidus; Diabetes Insipidus, Nephrogenic; Diabetes Insipidus, Neurogenic; Diet, Sodium-Restricted; Electrolytes; Humans; Hydronephrosis; Infant; Intellectual Disability; Spironolactone; Vasopressins; Water-Electrolyte Balance

Topics: Bipolar Disorder; Depression; Epilepsy; Estrogens; Female; Humans; Hydantoins; Intellectual Disability; Mental Disorders; Mentally Ill Persons; Nitrates; Potassium; Premenstrual Syndrome; Progesterone; Schizophrenia; Thyroid Hormones; Tranquilizing Agents; Vasopressins

Topics: Diabetes Insipidus; Heredity; Humans; Intellectual Disability; Muscular Diseases; Respiration Disorders; Vasopressins