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Biomedical subjects

J Glatzl

Publications and source records attributed to J Glatzl.

At least 37 records · Page 2Linked to original sources
PubMed1981

[Aarskog syndrome (author's transl)].

Report of radiologic and hormonal results of a patient with typical stigmata of the Aarskog-syndrome. X-Ray findings are not been found to give diagnostic clues, whereas the hormonal findings are considered specific-typical: FSH and LH levels prior to orchidopexy are in a range are as seen with hypergonadotropic hypogonadism. One year after the orchidopexy LH values were found to be normal, the FSH again showed increased titer. The growth hormones concentrations are normal but Somatomedin-activity is decreased.

Abnormalities, Multiple↗
PubMed1981

[Endemic goiter in Austria's youth?].

After 17 years the efficiency of iodine prophylaxis of endemic goiter (1 : 100000) in Austria was checked by control field studies in 3 Tyrolean towns n Austria. The data obtained there were compared with those of 123 school age children from the iodine deficient endemic goiter area of the province of Bolzano (Italy). The results show a reduction in goiter incidence from 50 to 35% in the total population in Austria, where goiter incidence in schoolchildren dropped from 45.9% to 12%. Urinary iodine/g creatinine was 65 micrograms in Austria, the 24 hr radioiodine uptake with 41.8% was normal. In comparison the ethnologically and geographically similar endemic goiter zone in the province of Bolzano showed a goiter incidence in schoolchildren of up to 46%, while urinary iodine/g creatinine was 35.9 micrograms and radioiodine uptake after 24 hr about 50%. Extensive studies of peripheral hormone parameters (T4, TBG, T3, TSH, rT3, FT3, FT4) revealed a significantly higher rT3 concentration of 24.7 ng/dl in Austria compared with a value of only 19.8 ng/dl in the province of Bolzano. These facts suggest an increased conversion of T4 to real T3 in iodine deficiency, which might contribute to the adaptation of the organism to this condition. No statement, however, can be presented regarding the regulation of this phenomenon. Even as endemic goiter is decreasing in Austria, an increase of salt iodization to 1 : 50000 according to the swiss procedure might eliminate definitely endemic goiter in Austria.

Austria↗
PubMed1981

[Asymmetric mixed gonadal dysgenesis (author's transl)].

We would like to report a girl, 11 7/12 years old, with the typical signs of an asymmetric mixed gonadal dysgenesis (amgd). The external genitalia were ambiguous, the inner genital organs contained a dysgenetic testis on the right side an ovarian "streak" on the left. At laparatomy follopian tubes were found bilaterally. On the right side the microscopic specimen showed an epididymis. There was an unicornuate malformation of the uterus. The karyotype, first examined 1969 in the age of a few month, showed chromosomal mosaicism, 45 XO/46 XX. In 1980 this problem was reevaluated, because now the HY-antigen-determination was available, this was uniformally found to be positive in our patient. Now the new karyotype with special methods was 45 XO, 46 X dic (y)/47 XY + dic (y). This karyotype was, to ower knowledge, never seen before in amgd. Particular emphasis was payed to the discussion of the pathogenesis of this karyotype and the amgd in general. We would like to consider this intersexual malformation as a prototype of a chromosomal induced disturbance of somatic sexual differentiation.

Child↗
PubMed1980

Hereditary deficiency of adenine phosphoribosyl transferase.

We describe a 12 year old patient who developed acute renal failure at the age of 18 months due to radiolucent "uric acid" stones. Measurement of APRT activity showed a complete dificiency in this patient (less than 0.02%). In the urine we found instead of uric acid 2.8-dihyroxyadenine as measured by high pressure liquid chromatography. The pedigree indicates an autosomal-recessive inheritance of this disorder.

Acute Kidney Injury↗
PubMed1979

Hereditary angio-oedema: treatment with danazol. Report of a case.

An 8-year-old boy with hereditary angio-oedema was treated with danazol under close endocrinological supervision. The boy's C1 esterase inhibitor (C1inh) and C4 levels increased rapidly to near normal values under a daily dose of 400 mg and were maintained at about 50% of the normal by maintenance doses of 200 mg danazol every other day. Throughout the entire treatment period (11 months) the boy has been maintained free from attacks of angio-oedema. No hormonal imbalance was detected in the follow-up period. Our results indicate that danazol should be suitable for the treatment of HAE not only in adults but also in prepubescent children.

Angioedema↗
PubMed1979

[Frequency of Kongenital Adrenal Hyperplasia (author's transl)].

The frequency of homozygous congenital adrenal hyperplasia in Tyrol is found to be 1 : 8991, the gene-frequency for congenital adrenal hyperplasia 1 : 95 and the frequency of heterozygous congenital adrenal hyperplasia 1 : 48. Our data is compared on a numerical and statistical base with that in Zürich and Munich with regard to the frequency of congenital adrenal hyperplasia, to its distribution with and without salt loss and to its sex-distribution. According to our study one may assume a frequency of homozygous congenital adrenal hyperplasia in Tyrol, Zürich and Munich of 1 : 7000--10,000.

Adrenal Hyperplasia, Congenital↗
PubMed1978

[The significance of radioimmunoassay for the diagnosis of growth disorders in childhood (author's transl)].

The fact, that peripheral concentrations of most hormones, including growth hormone, are in the nano- and picomole range, requires the use of very sensitive analytical methods for their determination. Radioimmunoassays are most widely used for this purpose as they fulfill the criteria of high sensitivity and reliability. This paper briefly summarizes the principle of radioimmunoassays and the application of such tests for the diagnosis of growth disturbances in children.

Child↗
PubMed1978

[Renal glycosuria with loss of phosphate (author's transl)].

Three of six members of one family have a renal glycosuria of variable degree. In addition to this they have a mild loss of phosphate under normal conditions. In one patient the phosphate-loss becomes very high after a loading dose. After describing the different data the mechanism of renal glucose transport and its relationship to phosphate transport as well as the genetic of renal glucosuria are discussed. The combination of renal glycosuria and renal loss of phosphate is very rare. The difference in regard to gluco-phosphaturia is mentioned.

Adult↗
PubMed1977

[Usefulness of the serum-xylose-test in comparison with small-intestine morphology in the malabsorption syndrome].

In 148 children, 4 months to 14 1/2 years old, 192 serum-xylose-tests (XT) and small bowel biopsies have been performed because of suspected intestinal malabsorption. The results of the XT and of the biopsies were compared to investigate the diagnostic value of the XT with respect to the morphology of the small bowel mucosa. Further we wanted to determine at which time after the oral intake of xylose the best correlation of XT and morphology can be expected. In children with normal mucosa the XT differed significantly from those with subtotal mucosal atrophy but not with partial villous atrophy. However, partial villous atrophy could be differentiated from subtotal villous atrophy with the same test. In children with subtotal villous atrophy a statistically significant age-dependency could be observed, comparing children being less or more than 2 years old and also a dependency from periods with gluten-free diet. Partial villous atrophy with or without coeliac disease cannot be differentiated by means of the XT. Best correlation of the XT and the morphology of the small bowel mucosa can be found 60 minutes after the oral xylose load; no additional information is obtained by more blood-xylose-determinations (e.g. 30, 90, 120, 180 minutes). Because of the rather high standard deviation of the individual blood xylose values no exact prediction can be made from the XT to the mucosal morphology. Therefore the XT is only of value for screening purposes and its results should not influence the indication for a small bowel biopsy, derived from clinical considerations.

Adolescent↗
PubMed1976

[Medullary sponge kidney: a short review and a report of two cases (author's transl)].

Radiologically the collecting tubules in the medulla are dilated up to cystic proportions. There may be no clinical symptoms, but frequently the dilated tubules predispose to infection and lithiasis. Such cysts do not interfere with renal function. X-ray diagnosis, frequency, therapy and etiology are discussed. Two further cases of MSK in childhood are described.

Adolescent↗
PubMed1975

[Congenital pernicious anemia (author's transl)].

Pernicious anemia is a rare disease of the pediatric age-group. Two kinds of pernicious anemia are known for this period, the "congenital" and the "iuvenile" form. Both are characterized by a megaloblastic anemia and a deficiency of the intrinsic-factor. The congenital form unusually begins before the second year of age and does not have changes of the mucous membranes of the stomach. The iuvenile form also called "adolescent or auto-immune pernicious anemia" has its beginning in the later childhood and shows like the adult form atrophy of the mucous membrane of the stomach, anacidity and antibodies against the intrinsic factor and parietalcells. A patient with congenital pernicious anemia is presented; the symptoms, diagnosis, differentialdiagnosis and therapy of this disease is reviewed.

Age Factors↗
PubMed1975

[Hypospadias in infancy I) pathophysiologic considerations II) hormonal balance studies (author's transl)].

Animal studies (Goldman, Jost) and test results in patients with hypospadias (Bongiovanni, Zachmann, Knorr) put up the question, whether all forms of hypospadias could be caused by a disturbance or peculiarity of the adrenal or gonadal androgen metabolism. Healthy volunteers and boys with glandal, penile and scrotal hypospadias were examined for their basal hormon status and response to stimulation. The following test-results are uniform, however due to the small number of cases, we would like to use these data more as a suggestion for peculiarities of the androgen metabolism, these are: 1. signs of quantitatively decreased testosteron production. 2. signs of qualitatively deranged testosteron-biosynthesis in patients with hypospadias due to a) decrease in certain enzymes in the testosteron-biosyntheticpathway (3-beta-hydroxysteroid-dehydrogenase, 17,20-desmolase, 17-beta-hydroxysteroid oxidoreductase) b) increased peripheral conversion of androgen metabolites 3. signs of a suggested "saving" of androgens in the catabolism of those compounds and, last not least 4. signs of gonadal transformation of the adrenals, seen by increased adrenal androgen production and an adrenal transformation of the gonads, which can ultimately be considered as faulty differentiation of these 2 organ systems.

Androgens↗