Diminished linear growth associated with chronic salt depletion.
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Biomedical subjects
Publications and source records attributed to H E Kulin.
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Thyroid storm is a rare occurrence in the adult population and is even more unusual in children. The current report is of a 3.5-year-old girl who had thyroid storm with unique neurologic manifestations, namely seizure and coma. Acute medical management with propylthiouracil, saturated solution of potassium iodide, hydrocortisone, and propranolol brought about complete resolution of symptoms.
To determine the relationship of gonadotropin excretion to spermarche, 26 boys ranging in age from 10.3 to 17.5 years each provided ten overnight urine samples. Microscopic observation of sperm was found in 33 (13%) of the 260 samples, with 50% of the boys exhibiting sperm in at least one specimen. No further cumulative gain in detecting spermaturia occurred after the seventh urine collection. The median age of spermarche was computed by logistic regression analysis to be 14 years. Three urine collections from each boy were assessed for gonadotropin levels. At age 14 years mean follicule-stimulating hormone and luteinizing hormone excretion were, respectively, 857 and 503 mIU/h, into the reported adult daytime range. Spermarche is a midpubertal event associated with age-appropriate gonadotropin production.
An increasing age of marriage coupled with high rates of premarital sexual activity have caused notable changes in the incidence of out-of-wedlock pregnancies in much of the developing world. In Africa, local policy makers are beginning to perceive the medical implications of these changes as the youth component of illicit abortion, maternal mortality, and sexually transmitted disease becomes more visible. Other social issues, which include school leaving, unemployment, violence and drug abuse, are emerging among the young people of Africa as elsewhere. A successful approach to these problems will require a multi-disciplinary perspective of the adolescent with professional contributions from the arenas of health, behavior, education and sociology. This report stresses the thesis that adolescents constitute a unique sub-population whose special needs must be recognized in Africa; strong institutional facilities are required, backed by committed advocates and leadership for the youth sector. Programs initiated in Kenya and Zimbabwe serve as useful models for other African locales.
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Nine boys with anorchia and 9 individuals with diminished testicular function were followed between ages 10 and 18 with serial determinations of urine gonadotrophins and serum testosterone. Ten hCG stimulation tests were performed in eight of these patients. Adult levels of LH (greater than 500 mIU/h) and low measurements of serum testosterone (less than 54 ng/dl) confirmed the anorchic state. Boys with diminished testicular reserve exhibited urinary gonadotrophin changes similar to peripubertal anorchic patients but testosterone levels increased progressively with age (90-715 ng/dl). FSH attained adult castrate levels (greater than 1700 mIU/h) by age 13 in these boys and served to distinguish them from normal controls. The longitudinal assessment of basal hormone levels can separate anorchia from diminished testicular reserve in boys of pubertal age and testing with hCG is not required for evaluation.
Among women with 46,XY gonadal dysgenesis, there is a high incidence of gonadal tumors. Because of evidence of a connection between occurrence of those tumors, H-Y phenotype, and breast development, we surveyed 55 cases of 46,XY gonadal dysgenesis and 12 related cases involving chromosomal and/or skeletal abnormalities. Our survey, including three new cases presented here, indicates that H-Y phenotype but not breast development may be related to the development of the gonadoblastoma-dysgerminoma. Thus among women with 46,XY gonadal dysgenesis, there are H-Y- and H-Y+ classes, but gonadal tumors are found almost exclusively in the H-Y+ class. Yet one of our patients may represent an exception to the association of H-Y+ phenotype and gonadal tumors in this syndrome.
Twenty-five short term hCG stimulation tests were performed in seven prepubertal girls, aged 3-11 yr, who were being evaluated for short stature. Provocative testing revealed GH deficiency in all patients, but reevaluation of one girl at a later date showed normal somatotropin levels. The study protocol lasted 18 months and included testing before, during, and after 1 yr of GH therapy. Delta 4-Androstenedione, testosterone, estrone, and estradiol were determined 0, 24, 48, and 72 h after initiation of a two-injection course of CG. Significant responses (approximately 2-fold over baseline) to the stimulation tests occurred for all steroids except testosterone, though no augmented effects were found in the presence of human GH. The results indicate functional capability of the prepubertal ovary when exposed acutely to a LH-like material, but no role for somatotropin in gonadal steroid production in the prepubertal female.
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FSH excretion was determined by RIA in 111 urine samples from 23 pregnant women. The use of acetone extraction allowed a 20-fold concentration of urine and the accurate quantitation of hormone levels. Between 10 weeks of gestation and term, FSH secretion was consistently low, with a mean excretion of 18 mIU/h; this amount compares to levels found in other states of marked hCG excess (e.g. choriocarcinoma) and is considerably less than the FSH excretion by prepubertal children. Maternal levels of urinary FSH did not differ with sex, suggesting a primary maternal pituitary origin for pregnancy FSH.
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The presence of a hypothalamic hamartoma and precocious puberty in a 19-month-old boy provided an opportunity to study their relation. Excised tissue had the ultrastructural characteristics of an independent neuroendocrine unit -- i.e., neurons containing neurosecretory granules and blood vessels with fenestrated endothelium and double basement membranes. Immunofluorescence studies using specific antibody to luteinizing-hormone-releasing factor showed antigenicity to the factor in the hamartoma. The testicular-hypothalamic-pituitary axis was tested. Clomiphene unresponsiveness suggested a lack of maturation of central-nervous-system events characteristic of normal puberty. The negative feedback system between gonad and brain was intact but partially resistant to steroid suppression. These studies suggest that hypothalamic hamartomas may cause precocious puberty by autonomous production and release of luteinizing-hormone-releasing factor into vessels that communicate with the pituitary portal blood system.
Timed urine collections-mostly over a three-hour period-were obtained from 58 newborn, 68 prepubertal children, 27 adolescents, and 51 adults. For comparison, similar samples were collected from 69 patients with presumptive abnormalities of sexual maturation. Follicle-stimulating hormone and luteinizing hormone were extracted by acetone precipitation and measured by radioimmunossay. Adult nem and women excreted approximately 11 times as much FSH and 33 times as much LH as perpubertal children. Elevated and/or diminished excretory values of gonadotropins were associated with appropriate diagnoses of abnormal pubertal advance or delay. Timed urinary FSH and LH measurements can provide a simple, sensitive, and accurate test of gonadotropin function in children.
Hyperphosphatasemia is a genetic disorder of intramembranous bone formation which is radiographically similar to Paget's disease. The authors report a case of hyperphosphatasemia complicated by salt-losing congenital adrenal hyperplasia in a Puerto Rican child. Recognition of this condition is important because of the promising results with calcitonin therapy.
Multiple blood sampling techniques and short-term, timed urine collections were employed before and after luteinizing hormone releasing factor (LRF) administration to 51 individuals on 58 occasions. Correlation of blood and urine per cent responses to LRF were significant for LH (P less than .05) and FSH (P less than .001), indicating that urine measurements provide an adequate means of assessing response to LRF. In 7 patients with basal blood gonadotropin levels below assay sensitivity, urine measurements provided the only means of accurately determining a response to LRF. Per cent response to LRF was negatively correlated with basal LH levels in the urine (P less than .02) but not in the blood. A significant negative correlation between basal levels and per cent response was demonstrated for FSH in blood and urine (P less than .01). Accurate measurement of basal gonadotropins and the expression of LRF responses as per cent increments aided in distinguishing between patients with hypothalamic and pituitary diseases. A marked response to LRF in the presence of very low basal LH levels was found in patients with hypothalamic disorders, a finding revealed only by using urine determinations. Low per cent responses to LRF were seen primarily in patients with pituitary disease, a situation most clearly delineated by blood FSH measurements.