ABSTRACT
Congenital adrenocortical hypoplasia is a malformation of unknown etiology leading to Addison's disease. The prognosis depends on early diagnosis which is difficult during the neonatal period. Decreased maternal secretion of estriol in late pregnancy is an important diagnostic clue.
Subject(s)
Addison Disease/congenital , Adrenal Cortex/abnormalities , Adrenal Insufficiency/congenital , Estriol/urine , Prenatal Diagnosis , Addison Disease/diagnosis , Adrenal Cortex Hormones/blood , Adrenal Insufficiency/diagnosis , Adult , Female , Follow-Up Studies , Humans , Hydrocortisone/blood , Infant , Infant, Newborn , Male , PregnancyABSTRACT
2 case reports regarding patients with a psychosocial dwarfism. Both children showed clinical and endocrinological signs of "idiopathic" hypopituitarism. Both patients came from economically well situated families of the upper middle-class. Disturbances in eating and sleeping behaviour are important hints that there might be a psychosocial etiology.
Subject(s)
Dwarfism, Pituitary/psychology , Growth Hormone/deficiency , Psychophysiologic Disorders/psychology , Psychosocial Deprivation , Adolescent , Child , Child, Preschool , Diagnosis, Differential , Dwarfism, Pituitary/diagnosis , Female , Follow-Up Studies , Humans , Male , Psychophysiologic Disorders/diagnosisABSTRACT
The case of a female newborn who was first found to have severe recurrent hypoglycemia and then developed cholestasis with conjugated hyperbilirubinemia is presented. No infectious diseases, metabolic defects, or disease of the hepatobiliary system were found. Endocrinological investigations revealed panhypopituitarism. Hypoplasia or aplasia of the pituitary was suspected. Cholestasis and hyperbilirubinemia must be seen in association with growth hormone and cortisol deficiency in the context of pathogenesis.
Subject(s)
Hypoglycemia/congenital , Hypopituitarism/congenital , Jaundice, Neonatal/etiology , Pituitary Gland/abnormalities , Diagnosis, Differential , Female , Humans , Infant, Newborn , Pituitary Function TestsABSTRACT
We present a mildly retarded boy with frontonasal dysplasia, valvular aortic stenosis, short stature, and small head circumference. In addition, mild genital anomalies and bilateral Sydney lines were present. Strikingly similar cases recently published by de Moor et al suggest a defined clinical entity.
Subject(s)
Facial Bones/abnormalities , Growth Disorders/genetics , Heart Defects, Congenital/genetics , Follow-Up Studies , Humans , Infant, Newborn , Male , Penis/abnormalities , Scrotum/abnormalities , SyndromeABSTRACT
39 patients with growth retardation were investigated: 21 (group H) were suffering from GH deficiency and 18 (group N) had no endocrine disease except for two adequately treated patients with mild hypothyroidism. Analysis of 15 plasma amino acid concentrations was carried out before and 1 and 2 hours after intravenous HGH injection at a dosage of 2 mg per m2. Except for one amino acid no significant difference between mean pre-treatment amino acid values was observed in the two groups of patients. In group H there was a highly significant decrease in plasma concentration of 14 amino acids already 1 hour after HGH injection and of all 15 amino acids after 2 hours. This response of plasma amino acids to HGH was less pronounced in group N. For 5 amino acids a moderate correlation was found in group H between acute metabolic response to HGH and growth response to long-term HGH treatment. Our results following HGH injection may reflect increased plasma amino acid transfer into cells due to HGH.
Subject(s)
Amino Acids/blood , Dwarfism, Pituitary/drug therapy , Growth Disorders/drug therapy , Growth Hormone/therapeutic use , Proteins/metabolism , Adolescent , Adult , Child , Child, Preschool , Dwarfism, Pituitary/metabolism , Female , Growth Disorders/metabolism , Growth Hormone/deficiency , Growth Hormone/metabolism , Growth Hormone/pharmacology , Humans , Male , Thyroid Function TestsABSTRACT
36 tall girls aged 10.3 to 15.5 years were treated with ethinylestradiol (0.5 mg/day) and norethisterone (15 mg/day). To date treatment for seventeen girls has been completed. Before treatment their bone age ranged from 11.0 to 13.5 years and mean height prediction was 185.19 cm (181.40-193.00 cm). After about two years of treatment their final height averaged 178.96 cm (171.60-183.50 cm). Predicted height was reduced by an average of 6.23 cm. The reduction in final height was significantly greater when therapy was started before a bone age of 12 years. Thirteen girls, re-examined after discontinuation of therapy, all had regular menstrual bleeding within six months. There were no serious or irreversible side effects during the period of observation.
Subject(s)
Body Height/drug effects , Ethinyl Estradiol/therapeutic use , Norethindrone/therapeutic use , Adolescent , Body Weight/drug effects , Bone Development/drug effects , Child , Drug Evaluation , Ethinyl Estradiol/adverse effects , Female , Growth Disorders/prevention & control , Humans , Menarche , Nausea/chemically induced , Norethindrone/adverse effects , Vomiting/chemically inducedABSTRACT
Fifteen red cell enzyme activities of growth-retarded patients with and without growth hormone (GH) deficiency were investigated before and after GH administration. The 15 enzymes were Hexokinase, phosphoglucomutase, glucose phosphate, isomerase, phosphofructokinase, fructose diphosphate aldolase, glyceraldehyde-3-phosphae dehydrogenase, triosephosphate isomerase, 2,3-diphosphoglycerate mutase, 3-phosphoglycerate kinase, 3-phosphoglycerate mutase, enolase, pyruvate kinase, glycose-6-phosphate dehydrogenase, 6-phosphogluconic dehydrogenase, glutathione reducase. Sixty-six subjects were studied: 30 normal control subjects (group N) and 36 patients (aged 5-23 years) with short stature. Complete endocrine evaluation showed 21 (group I) to have GH deficiency (10 patients with isolated GH deficiency) and 15 (group II) to have normal hypothalamic and pituitary function except for two patients with a moderate hypothyroidism. Both had been receiving thyroid hormone treatment for a long time before our studies. All 36 patients were treated with 2 mg human growth hormone intramuscularly for 7 days. Before GH treatment no significant difference was observed between hematologic data in group I (GH deficiency) and group II (no GH deficiency). After GH therapy there was a significant increase in reticulocyte count in both groups of patients with short stature. The mean pretreatment value in group I was 1.294% +/- 0.084 (SEM); the mean post-treatment value was 2.081% +/- 0.287 (SEM)< P less than 0.005. The mean pretreatment value in group II was 1.0% 0.184 (SEM); the mean post-treatment value was 1.407% +/- 0.193 (SEM), P less than 0.01. In group II (no GH deficiency) mean pretreatment erythrocyte enzyme activities were not significantly different from those activities observed in normal control subjects (group N). However, in patients who lacked GH, the pretreatment activities of five red cell enzymes (glucose phosphate isomerase, triosephosphate isomerase, glyceraldehyde-3-phosphate dehydrogenase, 2,3-diphosphoglycerate mutase, 3-phosphoglycerate kinase) were significantly decreased before GH administration compared with the values in normal control subjects...
Subject(s)
Enzymes/blood , Erythrocytes/enzymology , Erythropoiesis/drug effects , Growth Hormone/pharmacology , Adolescent , Adult , Child , Child, Preschool , Female , Growth Hormone/deficiency , Humans , Isomerases/blood , Male , Oxidoreductases/blood , Phosphotransferases/bloodABSTRACT
Following ACTH-stimulation, in 40 patients plasma corticoid levels (CPB-technique) were determined every 15 min for three hours to demonstrate the period of maximal increase. There was no significant difference in the increase of plasma cortisol following intravenous or intramuscular injection of ACTH (beta1-23). Peak values were reached at 60 min (65.2 +/- 3.2 mug/100 ml). This is considered to be the right moment for blood sampling when using a short ACTH-test.
