Biomedical subjects

H Frisch

Publications and source records attributed to H Frisch.

212 records · Page 12Linked to original sources

PubMedDate not supplied

Fluorescence angiography of the paramacular retinal vessels and altered glomerular basement membrane in children with juvenile onset diabetes mellitus.

Eighteen diabetic children aged between 8.5 and 16.5 years (mean 12.5 years) who had been diabetic for 1 to 10 years (mean 4.1 years) were examined for their urinary glomerular basement membrane (GBM) antigen excretion by means of immunoelectrophoresis and for alterations of the retinal vessels by fluorescence angiography. None of these patients showed albuminuria or hypertension. As compared to 40 healthy controls aged between 5 and 17 years, altered GBM antigen mobility (alpha-1) was found in 9 out of these 18 diabetics, whereas the remaining 9 children had normal GBM antigen mobility (alpha-2). Pathological fluorescence angiography findings on the other hand were evident in 7 children with altered GBM mobility, but only in 4 diabetics with normal GBM antigen mobility. This trend reflects the similarity of biochemical and functional characteristics of basement membranes in the retinal and kidney vessels supporting the well established association of vascular changes in both organs in patients with diabetes mellitus. GBM antigen excretion into urine could be useful for detecting early microvascular alterations in the kidneys in juvenile diabetics where diagnosis of early glomerulosclerosis is important.

Adolescent↗

PubMedDate not supplied

Constitutional chromosome anomalies in patients with cerebral gigantism (Sotos syndrome).

Two boys are presented with the clinical features of cerebral gigantism and chromosomal variants which have not been described so far in this syndrome. In the first boy a de novo pericentric inversion of chromosome Y was found, the karyotypes of all other investigated family members were normal. The patient had an obstructive hypertrophic cardiomyopathy and atrial septal defect type II. The second boy had inherited pericentric inversion of the heterochromatic region of chromosome 9 from his mother. This chromosome 9 variant was also found in his sister who had a similar phenotype but without gigantism. Endocrine evaluation demonstrated normal results in both boys. The intellectual achievement in both cases was average.

Abnormalities, Multiple↗

PubMedDate not supplied

[Seckel dwarfism based on a personal case].

Report on a girl with Seckel-syndrome (bird-headed dwarfism). In addition to the known symptomatology she had a congenital heart failure (ASD II, VSD, PDA). Endocrine evaluation revealed decreased growth hormone stimulation. In the CT-scan of the skull enlarged ventricles were demonstrated.

Abnormalities, Multiple↗

PubMedDate not supplied

[Reduction of body height in tall girls by estrogen treatment].

Twenty-six girls with constitutional tall stature were treated with 0.5 mg ethinyloestradiol daily po and 10 mg norethisteronacetate from day 21 to 25 of the cycle for 1.4 +/- 0.4 years. Height, weight, bone age according to Greulich-Pyle (GP) and Tanner (RUS), height predictions according to Bayley Pinneau (BP) and Tanner Whitehouse (TW) were recorded at the onset of therapy, at the end of treatment and 7.4 years later. The mean chronological age at start of treatment was 12.6 +/- 1.1 years, bone age (GP) 12.4 +/- 0.7 years, (RUS) 13.5 +/- 0.7 years. The initial height prediction according to BP was 186.2 +/- 4.1 cm, which was 3.5 cm higher than the prognosis according to Tanner Whitehouse. Depending on the method used for height prediction, the height reduction by treatment was 4.6 +/- 3.0 cm (BP) or 1.4 +/- 2.2 cm (TW), respectively. The reduction of predicted height was more pronounced in girls with a bone age (GP) < 12.5 years at the initiation of therapy (n = 13), than in girls with a bone age > or = 12.5 years (n = 13). Final height was measured 7.4 years after the end of treatment. Chronological age: 21.3 +/- 3.7 years, final height 181.8 +/- 3.7 cm. Mean final height after therapy was 7.7 cm above target height, or, after allowance for the secular trend, 3.8 cm above target height. Body weight, recorded in centiles of body mass index, increased from the 38.5 +/- 26 to the 58.1 +/- 22 centile, weight gain was more pronounced in younger girls. At follow up investigation 18/19 girls, who answered a questionnaire, had a positive view of the previous treatment.

Adolescent↗

PubMedDate not supplied

[Hormonal findings in children with central manifestations of Recklinghausen's neurofibromatosis].

Hormone parameters were evaluated in 14 children with cerebral manifestation of N.R. to find a possible involvement of the hypothalamo-pituitary axis. In addition to growth hormone and prolactin stimulation, tests of gonadotropic, thyreotropic and adrenocorticotropic function were performed. 6 patients had insufficient growth hormone secretory capacity, and 6 times an increased prolactin-stimulation was found; in one patient ACTH-reserve was diminished. A brain tumour was found in 5 of these 8 patients with impaired hormone results; however, in 3 cases pathologic results were found only after operation.

Adolescent↗

PubMedDate not supplied

[Anorexia nervosa in male adolescents. II. Psychoneuroendocrinologic findings].

Female patients with anorexia nervosa (a.n.) are characterized by distinct endocrine features probably due to hypothalamic pituitary dysfunctions. There is only a limited number of case reports available on patients with a.n.; mostly with few data on hormones. In six male patients with a.n. we examined basal and stimulation values of several hormones performing three pituitary function tests. Basal and stimulated values of luteinizing hormone (LH) and of follicle stimulating hormone (FSH) after LHRH were low comparable to results in prepuberal boys. Similarly, testosterone levels in serum were also markedly reduced. By exploring the pituitary-thyroidal axis total T4 was diminished in one patient and at the lower limit in two patients; concentration of free T4 was in the normal range, while five of six subjects had reduced total T3 concentration and two of six patients showed increased reversed T3 levels; TBG concentration was always in the normal range. Basal TSH was normal, while in two patients the TSH stimulation levels after TRH were diminished; in all patients the TSH stimulation levels were found to be delayed. The basal levels of growth hormone were normal, but the growth hormone response after insulin was diminished in four patients. In all six patients basal prolactin (PRL) and PRL concentration after TRH stimulation was in the normal range. The neuroendocrine results in the six patients with a.n. confirm in males a similar hypothalamic-pituitary dysfunction as it is already known for female patients.

Adolescent↗

PubMedDate not supplied

Screening of patients with Turner syndrome for "hidden" Y-mosaicism.

The presence of Y-chromosomal sequences in the cells of patients with Turner-Syndrome (TS) is a risk factor for the development of gonadal tumors. Therefore and since demonstration of Y-material usually results in prophylactic gonadectomy optimal sensitivity and specificity of the diagnosis have to be attempted. We wanted to evaluate the diagnostic potential of cytogenetic investigations as routinely employed in TS. In the most comprehensive study published so far we screened 208 TS patients for the presence of Y-chromosomal sequences by polymerase chain reaction (PCR) specific for eight different loci along the Y-chromosome. Six patients (3%) without cytogenetic evidence of Y-chromosome were found to be Y-positive. Among 12 cases with marker chromosomes two more Y-chromosomal fragments were identified. Thus, PCR-screening for Y-specific sequences was shown to be a valuable tool in the clinical management of Turner patients.

Adolescent↗

PubMedDate not supplied

[Behavior of growth hormone after stimulation with growth hormone releasing hormone (GHRH) in children with disorders of the hypothalamo-hypophyseal axis and girls with Turner syndrome].

BACKGROUND: To investigate the hypothalamic pituitary axis in children with various growth disorders stimulation tests with growth hormone releasing hormone (GHRH) were performed and compared to pharmacological stimulation tests. PATIENTS: 103 subjects were studied-15 healthy volunteers, 20 patients with isolated growth hormone deficiency (IGHD), 16 patients with multiple pituitary hormone deficiency (MPHD), 17 children with organic growth hormone deficiency (OGHD) and 35 Turner patients. METHODS: 1 microgram/kg GHRH was administered iv, blood samples were drawn before GHRH and after 5, 15, 30, 45, 60 and 90 minutes. In 53 patients a second GHRH-test was done after repeated GHRH injections (7 times 1 microgram/kg GHRH every 3 hours). RESULTS: In the group of healthy probands we found wide variations of stimulated growth hormone (GH) levels. In 7 of the 20 patients with IGHD the stimulated GH level exceeded 10 ng/ml in one of the two GHRH-tests. The maximal GH response to the second GHRH-test (8.3 +/- 6.8 ng/ml) was significantly higher (p < or = 0.025) than after the first GHRH-test (5.0 +/- 4.0 ng/ml). In patients with MPHD stimulated GH values were significantly lower than in patients with IGHD (p < or = 0.005). GHRH stimulation tests in OWHM patients did not differ from the results in children with IGHD. The GHRH induced GH response in girls with Turner syndrome was significantly lower than in the healthy volunteers (p < or = 0.025). Basal (p < or = 0.05) and GHRH stimulated GH levels (p < 0.02) were lower after estrogen administration. CONCLUSIONS: Pituitary GH secretion could be activated by repeated stimulation with GHRH (priming) in children with hypothalamic GH deficiency. Only in the patients with MPHD a correlation could be found between the result of the GHRH-stimulation and one pharmacological GH test. In children with OGHD the radiation dose was negatively correlated to the maximal GH concentrations after L-Dopa stimulation. Basal and GHRH stimulated GH levels in Turner syndrome were lower after estrogen administration.

Adolescent↗

PubMedDate not supplied

Effect of growth hormone treatment on glucose tolerance in a patient with cystinosis after kidney transplantation.

A 16 year-old boy with nephropathic cystinosis and kidney transplantation was successfully treated with rhGH because of growth retardation. After 15 months of rhGH therapy he developed impaired glucose tolerance. Various causes like cystinosis itself, the immunosuppressive therapy with cyclosporine A and cortisone, but rhGH too might have been the responsible factors for that. Treatment with rhGH was initiated again after 4 months of interruption of therapy because no relation between impaired glucose tolerance and GH could be established.

Adolescent↗

PubMedDate not supplied

[Spontaneous growth of children with chronic renal failure].

Several pathogenetic factors may contribute to the growth failure in patients with CRF. We have analysed retrospectively spontaneous growth in 30 patients with CRF and investigated the influence of various therapies (conservative therapy, hemodialysis and transplantation with different immunosuppressive therapy) on spontaneous growth. At diagnosis (age 8.5 +/- 0.8 years; mean +/- SEM) height was reduced in the whole group (-1.46 +/- 0.2 SDS; x +/- SEM). Height SDS decreased further during the observation period of two and three years in the hemodialysis group (-2.19 +/- 0.69) and in the group with conservative treatment (-2.58 +/- 0.93), respectively. After Tx (n = 26) patients received different types of immunosuppressive therapy: 18 patients received cyclosporin A and prednisone (4-6 mg/m2 BS) daily; 8 transplanted patients received azathioprine (2 mg/kg BW) additionally. After Tx height improved not significantly (-2.02 +/- 0.30 vs. -1.49 +/- 0.36 SDS and -2.52 +/- 0.64 vs. -2.05 +/- 0.24 SDS after three and two years, respectively) irrespective of the immunosuppressive therapeutic regime. In the whole patient group neither hemodialysis nor conservative treatment nor Tx caused a significant change in height SDS; the possible factors, that might be involved in growth failure, are discussed.

Azathioprine↗

PubMedDate not supplied

Psychological aspects in children and adolescents with hypopituitarism.

Psychological studies in children with stunted growth have partly shown inconsistent results due to heterogeneity of samples and the use of non-standardized test procedures. We have examined patients with proven hypopituitarism using a selection of standardized and age-related psychological tests. Forty-eight patients, 32 male, 16 female, age 6 to 26 years with isolated growth hormone deficiency (n = 22) and multiple pituitary deficiencies (n = 26) were investigated. The patients had had hormonal substitution therapy for 0.1-16.8 years. Test procedures included evaluation of intelligence and various personality parameters. Full score IQ was in the average range. Despite these findings a high percentage of patients had delayed schooling or had to repeat a class. They were normal regarding emotional balance and frustration tolerance and did not show any tendency towards depression or psychosomatic disorders. Social behavior was characterized by an infantile attitude toward their personal environment. The patients showed a tendency to avoid aggressiveness in frustrating situations. In contrast to the results of these tests, a non-standarized interview demonstrated that the majority of patients had serious problems because of their short stature, including difficulties in finding social contacts. Continuous medical and psychological guidance is therefore recommended.

Adolescent↗

PubMedDate not supplied

Treatment of peripubertal children after renal transplantation (RTX) with recombinant human growth hormone: auxological data and effects on insulin-like growth factor-I (IGF-I) and IGF-binding protein-3 (IGFBP-3) during 24 months.

OBJECTIVE: To evaluate growth and endocrine parameters in RTX children with GH treatment during 24 months. SUBJECTS: 18 children (13 boys), age 13.1 yr (8.0-16.6), bone age 10.1 yr (5.4-15.3). Patients were 2.8 yr (0.5-7.5) after RTX and had immunosuppressive therapy, prednisone 0.16 mg/kg/d (0.08-0.68). METHODS: GH (4 IU/m2/day s.c.) was given and patients were seen every 3 months for evaluation of height, height velocity, bone age, and hormone parameters. Serum IGF-I was determined by RIA, IGFBP-3 by RIA and Western ligand blotting (WLB). Renal function and adverse effects (GFR, glucose tolerance, rejection episodes) were monitored. RESULTS: Height (+1 SDS) and height velocity (+2.2 SDS) increased significantly during 24 months GH treatment, but delta BA/delta CA was 1.7 and 1.5 during the first and second treatment year, respectively, and all patients entered puberty during the treatment period. GFR decreased slightly during 2 yr (p = 0.048), two patients had chronic rejection and GH therapy was terminated in one patient because of glucose intolerance. The ratio IGF-I/IGFBP-3 rose during the first year (p = 0.002) indicating more bioavailable IGF-I. IGFBP-3 determined by WLB was decreased, but IGFBP-1, -2 and -4 were elevated as compared to a standard. CONCLUSIONS: GH treatment increased height and growth rate in children after RTX. This may be due to significant changes in IGF-I and IGFBP-3 relationship. However, bone maturation was also accelerated thus diminishing height potential. From month 12 to 24 a continuous decrease of IGF-I was observed. There was a slight but significant deterioration of graft function. Adverse events that led to termination of GH therapy were observed in 3 of 18 patients.

Adolescent↗

PubMedDate not supplied

Gender identity reversal in an adolescent with mixed gonadal dysgenesis.

We describe a patient who was assigned female at birth because of genital ambiguity without performing further diagnostic procedures and presented at the age of 13-1/2 years because of her strong desire to change her legal sex. Karyotype was 46,XY; clinical, endocrinological, radiological and surgical work-up revealed hypergonadotropic hypogonadism and mixed gonadal dysgenesis. Gender identity reversal was performed after extensive psychological testing and adaptation of living circumstances resulting in a successful integration as a male with normal psychological and social functioning. In several surgical procedures, the streak gonad, the nonfunctional testis, and the rudimentary uterus were removed, and a penis was reconstructed from a penisoid with chorda and hypospadias. Our patient supports the idea that gender identity is imprinted prenatally by hitherto poorly understood mechanisms and that sex assignment in infants with ambiguous genitalia needs careful consideration of not solely endocrinological and anatomical data.

Adolescent↗

PubMedDate not supplied

Salt wasting in simple virilizing congenital adrenal hyperplasia.

OBJECTIVE: To evaluate possible derangement in sodium balance in patients with the simple virilizing (SV) form of congenital adrenal hyperplasia (CAH) which might have implications for therapeutic procedures. DESIGN: Patients were sodium loaded throughout the protocol and studied after interruption of cortisone therapy for 4 days, after treatment with dexamethasone 1 mg/m2/d for 3 days and after additional therapy with 9alpha-fluorocortisone (9alphaF) 0.1 mg/m2 for 3 days and 9alphaF 0.2 mg/m2 for 3 days. After each phase, basal and stimulated (2 h in an upright position), aldosterone and plasma renin concentrations (PRC) were evaluated. METHODS: Nine children aged 5.0 to 12.8 years with the clinical classification of SV CAH were studied. Diagnosis was established at the age of 2.9 +/- 1.9 years (mean +/- SD) and the patients were treated with oral hydrocortisone at a mean dose of 22.5 mg/m2/d, given in two or three daily doses. Seven patients were heterozygous for the Ile172Asn point mutation in exon 4, and two for the Pro30Leu mutation in exon 1 of the CYP21 gene. All of them had a more severe mutation or deletion in the second allele. PRC was determined by RIA and expressed as Goldblatt units (GU). Aldosterone was determined by RIA. Genotyping for disease-causing deletions and mutations was performed by Southern blot analysis, PCR and direct sequencing of CYP21. RESULTS: PRC was significantly higher in patients off hydrocortisone replacement therapy than in age matched control subjects (basal 3.3 +/- 0.5 vs 1.2 +/- 0.2 GU 10(-4)/ml [mean +/- SEM], p<0.001; stimulated 8.6 +/- 0.5 vs 2.4 +/- 0.4 GU 10(-4)/ml; p<0.05). Upon treatment with dexamethasone, patients with CAH demonstrated a decrease in basal (2.1 +/- 0.5 GU 10(-4)/ml) but not in stimulated PRC (8.8 +/- 2.6 GU 10(-4)/ml). When dexamethasone treatment was supplemented by 9alphaF, both supine (0.9 +/- 0.1 GU 10(-4)/ml) and stimulated (1.6 +/- 0.3 GU 10(-4)/ml) PRC were suppressed into the normal range. Aldosterone concentrations were elevated after interrupting hydrocortisone treatment only under basal conditions. Dexamethasone caused a decrease below the reference level and 9alphaF resulted in further suppression of aldosterone concentration. CONCLUSIONS: All patients were hemizygous for a CYP21 mutation that is usually considered not to be associated with clinically relevant salt loss. However, we demonstrated an aldosterone secretion disturbance in patients with SV CAH which cannot be corrected by glucocorticoid treatment alone. Additional mineralocorticoid therapy should be considered in order to suppress PRC and reduce the glucocorticoid dose required for adequate control.

17-alpha-Hydroxyprogesterone↗