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Biomedical subjects

H Frisch

Publications and source records attributed to H Frisch.

At least 55 records · Page 3Linked to original sources
PubMed1995

Growth retardation and reduced growth hormone secretion in a boy with achalasia.

UNLABELLED: A 15-year-old boy with achalasia of the oesophagus is described in whom growth retardation was the presenting and misleading symptom. Growth hormone (GH) and insulin-like growth factor-I secretion were decreased but GH therapy was unsuccessful. After pneumatic dilatation of the oesophageal sphincter catch up growth occurred. CONCLUSION: In children with inconclusive results of GH stimulation tests and unresponsiveness to GH treatment, rare causes of growth retardation due to malnutrition or malabsorption should be considered.

Adolescent↗
PubMed1995

Treatment of patients with Ullrich-Turner syndrome with conventional doses of growth hormone and the combination with testosterone or oxandrolone: effect on growth, IGF-I and IGFBP-3 concentrations.

UNLABELLED: Thirty-nine girls with Ullrich-Turner syndrome (UTS) (median age 9.5 years) were treated with growth hormone (GH) with either 12 or 18 IU/m2 per week for 12 months followed by combination therapy with either oxandrolone (Ox) (0.0625 mg/kg/day po) or low-dose testosterone (T) (5 mg in every 2 weeks). Growth velocity improved significantly after 12 IU/m2 per week (6.4 +/- 1.7 cm/year vs 4.0 +/- 1.3 cm/year, x +/- SD, P < 0.001) and 18 IU/m2 per week of GH (6.5 +/- 1.3 cm/year vs 4.5 +/- 1.4 cm/year, P < 0.001). Ox, but not T was effective in maintaining growth velocity during the 2nd year of therapy (6.9 +/- 1.3 vs 5.3 +/- 1.5 cm/year). Basal insulin-like growth factor-I (IGF-I) concentrations were in the lower normal range and increased significantly in patients treated with 18 IU/m2 per week (357 +/- 180 ng/ml vs 160 +/- 84 ng/ml) and 12 IU/m2 per week (273 +/- 121 ng/ml vs 140 +/- 77 ng/ml). IGF-I concentrations increased further after addition of Ox (533 +/- 124 ng/ml, P < 0.001) or T (458 +/- 158, P < 0.05). IGFBP-3 concentrations were in the upper normal range before therapy and increased only moderately in both GH dosage groups. However, IGF binding protein-3 (IGFBP-3) concentrations were not affected by additional Ox or T treatment. CONCLUSIONS: 1. Conventional GH doses are effective in increasing growth velocity in UTS, especially, when combined with Ox.(ABSTRACT TRUNCATED AT 250 WORDS)

Age Determination by Skeleton↗
PubMed1995

Aldosterone and testosterone producing adrenal adenoma in childhood.

An 8-year-old boy presented with precocious puberty and hypertension. He had hypokalemia, increased serum aldosterone and testosterone levels and low plasma renin activity. An adrenal adenoma was found using imaging methods and was removed. Postoperatively aldosterone, testosterone and blood pressure returned to normal. Renal ultrasonography findings were consistent with nephrocalcinosis, which might be explained by long lasting hypokalemic metabolic alkalosis and hypercalciuria. Precocious pseudopuberty progressed into true puberty due to the maturational effect of testosterone. Nephrocalcinosis was still present 8 years later and hypertension was recurring obviously as a consequence of increased peripheral resistance.

Adenoma↗
PubMed1995

Final height and pubertal development in children with growth hormone deficiency after long-term treatment.

Auxological data and final height were analysed in 42 patients with growth hormone deficiency (GHD), 10 had isolated GHD (group 1), 23 had multiple pituitary hormone deficiencies (group 2) and 9 had organic GHD (group 3). Patients received growth hormone (GH) for a mean of 6.5 +/- 2.6 (group 1), 8.0 +/- 2.9 (group 2) and 2.9 +/- 1.5 years (group 3). Most patients were treated with pituitary GH (pGH), 11 IU/m2/week (mean) in 3 divided doses, which was not changed during puberty. Six patients, treated with daily injections of recombinant GH, showed a significantly better height velocity than those treated with pGH (2.1 vs. -0.3 SDS), though the mean dose was identical (p = 0.03). Final heights for boys and girls were -2.8 and -3.3 SDS (group 1), -1.9 and -1.6 SDS (group 2), and -2.9 and -3.2 SDS (group 3). Only 20% of group 1, 70% of group 2 and 22% of group 3 reached final heights within target limits. Final height was positively correlated with height at onset of puberty, but there was no association with the timing or magnitude of pubertal growth.

Adolescent↗
PubMed1995

Hormonal, genetic and clinical findings in an XX male.

A 17-year-old XX male with constitutional delay of growth and development and genetic short stature is described. Testosterone levels were normal but luteinizing-hormone-releasing-hormone-stimulated gonadotropin concentrations were increased. Testicular biopsy showed atrophic tubuli seminiferi and hyperplasia of the Leydig cells, and the spermiogram indicated azoospermia. Molecular analysis demonstrated the SRY gene close to the centromere of the paternally derived X chromosome. Clinical data in addition to the cytogenetic and molecular aspects are discussed.

Adolescent↗
PubMed1994

Raymond's syndrome following petrosal sinus sampling.

Inferior petrosal sinus sampling (IPSS) is used to evaluate the pituitary-dependency of Cushing's disease, and to predict the laterality of a microadenoma prior to transsphenoidal operation. A serious complication occurred in a 14-year-old boy: he suffered brain stem ischaemia with abducens nerve palsy and hemiparesis (Raymond's syndrome). The case prompted us to reconsider the indication for this investigation.

Abducens Nerve↗
PubMed1994

Diagnosis of X-recessive Kallmann syndrome in early infancy. Evidence of hypoplastic rhinencephalon.

A 3-month-old infant presented with hypogonadism, a small penis and bilateral cryptorchidism. He showed an insufficient response of luteotropic hormone (LH) and follicle stimulating hormone (FSH) to luteotropic hormone releasing hormone (LHRH) and of testosterone to human chorionic gonadotropin. The maternal uncle had hypogonadism and anosmia and also showed an impaired LH and FSH response to LHRH. MRI examination showed hypoplasia of the rhinencephalon in both cases. These findings in the son and brother of the clinically unaffected mother suggest X-linked recessive inheritance.

Adult↗
PubMed1994

Perspectives of longitudinal growth in cystic fibrosis from birth to adult age.

The longitudinal growth in 139 patients with cystic fibrosis (CF) was investigated from birth until the age of 19 years. Already at birth weight and length were reduced (weight: -0.83 +/- 0.13 SDS in girls, -0.44 +/- 0.13 SDS in boys; length: 0.55 +/- 0.13 SDS in girls, -0.39 +/- 0.14 SDS in boys; mean +/- SEM). Both variables showed a further decline until diagnosis was established (weight: -1.57 +/- 0.21 SDS in girls, -1.46 +/- 0.25 SDS in boys; length: -1.15 +/- 0.32 SDS in girls, -1.03 +/- 0.52 SDS in boys; mean +/- SEM). Six to 12 months after diagnosis length improved and reached the 25th percentile in both sexes. Height and weight followed the 25th percentile throughout childhood. Growth velocity was fairly normal during this period. There was a loss in percentiles of both height and weight after the age of 8 years and the pubertal growth spurt was delayed and reduced. However, the 25th percentile was reached again in the adolescent period. At the age of 19 years median height was 161.5 cm in girls and 173 cm in boys, both representing the 25th percentile. Using a sensitive statistical method for analysis of growth data we present CF specific growth curves for height, weight and growth velocity. There was no significant effect of pulmonary colonization with Pseudomonas aeruginosa on growth velocity.

Adolescent↗
PubMed1994

Methods for evaluation of growth in Turner's syndrome: critical approach and review of the literature.

Patients with Ullrich-Turner syndrome (UTS) are treated increasingly with growth hormone (GH) to improve growth velocity and final height. For evaluation of the effectiveness of this treatment, different methods have been applied and we demonstrate that the results depend, to some extent, on the specific method that has been used for analysis of data. We have analysed height and growth velocity data as well as the applied methodology from 13 studies on spontaneous growth in UTS. Most studies were based on calculations of annual means or medians of data collected in a longitudinal/cross-sectional manner; others used mathematical models. Growth velocities were calculated longitudinally in individual patients or were derived from height curves graphically or mathematically. Individual height data for a given age varied between 2.6 and 7.7 cm, when estimated annual means were applied, and between 0.4 and 5.8 cm when mathematical models were used. Reported data on growth velocity were almost identical in all studies except for the age of expected puberty, when some authors found a minor pubertal growth spurt. Standard deviations for growth velocity increased at the time of pubertal age and amounted to up to 70% of the respective growth velocity. When various UTS height standards were applied for evaluation of treatment effects, we found a difference of up to 100% of the SD score due to the different SD values of reference data. Results expressed as height SD score may be biased by relatively low mean heights of reference data at adolescent ages.

Adolescent↗
PubMed1993

Urinary growth hormone excretion in diabetic children: relation to nocturnal course of blood glucose levels.

A potential relation was evaluated between nocturnal urinary growth hormone (GH) excretion as a parameter for integrated GH secretion and the course of blood glucose (BG) levels during night and morning hours. Twelve diabetic children aged 11.6 +/- 2.0 years (mean +/- SD), with diabetes duration 4.4 +/- 1.6 years, took part in the study. Urine for GH estimation by a highly sensitive EIA was collected from 24.00 to 07.00 h during a diabetic summer camp. BG was monitored at 24.00, 04.00 and 07.00 h. Mean nocturnal GH excretion measured from 158 collections was 5.6 +/- 5.1 ng/g creatinine, with a wide range of 0.36-36.6. Remarkable intra-individual variations were found between distinct nights. GH excretion correlated positively with BG levels at 07.00 h (p = 0.003) and with the increment of BG between 24.00 and 07.00 h (p = 0.002). Thus, endogenous variations in nocturnal GH levels may be involved in the day-to-day fluctuations in fasting BG in diabetic subjects.

Adolescent↗
PubMed1993

Heterogeneous growth hormone (GH) gene mutations in familial GH deficiency.

The GH1 genes of probands of two families with familial isolated GH deficiency (IGHD) were sequenced. Double stranded sequencing of the polymerase chain reaction (PCR) amplification products from genomic DNA of two affected cousins in a consanguineous Turkish family revealed a G-->A transition in the 20th codon of the GH1 signal peptide. This substitution converts a TGG (Trp) to a TAG (stop) codon and generates a new AluI recognition site. PCR amplification of the GH1 alleles of family members, followed by AluI digestion, revealed that the G-->A transition segregated with the IGHD phenotype. In a Saudi Arabian family, a G-->C transversion was found that alters the first base of the donor splice site of intron IV. This substitution should perturb mRNA splicing, resulting in an altered protein product which should be unstable or bioinactive. This transversion also destroys an HphI site, which was used to assay samples from relatives. Digestion of PCR amplification products with HphI demonstrated cosegregation of the G-->C transversion with IGHD. These results demonstrate that familial IGHD is a heterogeneous disease that perturbs different steps in the expression of the GH1 gene.

Base Sequence↗
PubMed1993

Effect of growth hormone treatment on hormonal parameters, body composition and strength in athletes.

The effect of recombinant GH on strength, body composition and endocrine parameters in power athletes was investigated in a controlled study. Twenty-two healthy, non-obese males (age 23.4 +/- 0.5 years; ideal body weight 122 +/- 3.1%, body fat 10.1 +/- 1.0%; mean +/- SEM) were included. Probands were assigned in a double-blind manner to either GH treatment (0.09U (kg BW)-1 day-1 sc) or placebo for a period of six weeks. To exclude concurrent treatment with androgenic-anabolic steroids urine specimens were tested at regular intervals for these substances. Serum was assayed for GH, IGF-I, IGF-binding proteins, insulin and thyroxine before the onset of the study and at two-weekly intervals thereafter. Maximal voluntary strength of the biceps and quadriceps muscles was measured on a strength training apparatus. Fat mass and lean body mass were derived from measurements of skinfolds at ten sites with a caliper. For final evaluation only data of those 8 and 10 subjects in the two groups who completed the study were analyzed. GH, IGF-I and IGF-binding protein were in the normal range before therapy and increased significantly in the GH-treated group. Fasting insulin concentrations increased insignificantly and thyroxine levels decreased significantly in the GH-treated probands. There was no effect of GH treatment on maximal strength during concentric contraction of the biceps and quadriceps muscles. Body weight and body fat were not changed significantly during treatment. We conclude that the anabolic, lipolytic effect of GH therapy in adults depends on the degree of fat mass and GH deficiency.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗
PubMed1992

Hypoplasia of the corpus callosum and growth hormone deficiency in the XXXXY syndrome.

A 3-year-old Libyan boy with the XXXXY syndrome is described. MRI examination of the brain showed hypoplasia of the corpus callosum. He had growth retardation and endocrine studies demonstrated growth hormone (GH) deficiency. Dermatoglyphic pattern was different from previous reports. At histological examination of the undescended testes, Leydig cells were seen although they are usually not found in this variant of the Klinefelter syndrome.

Agenesis of Corpus Callosum↗
PubMed1992

Spontaneous growth in Turner syndrome: evidence for a minor pubertal growth spurt.

Spontaneous growth of 141 untreated girls with Turner syndrome was analysed. Of the patients 25% were born prematurely; their weight and height were normal when compared to prematurely born healthy infants. However, birth weight and height was significantly retarded in Turner patients born at term. A curve for height and growth velocity for the age range 0-16 years was constructed with a sensitive statistical method. By use of a mathematical model equations were created for calculating z-scores and the related percentiles for the height of individual patients at given age. Median height of 18 untreated patients at 18 years was 143.8 cm. Analysis of growth velocity revealed a minor but significant growth spurt at the age of 12.5 years. This growth spurt was also detectable in patients without signs of spontaneous puberty and occurred later in patients with 45,X0 karyotype. Bone age progression was linear up to the age of 7.5 years and decelerated thereafter.

Adolescent↗
PubMed1992

Growth hormone treatment in Turner's syndrome: short and long-term effects on metabolic parameters.

OBJECTIVE: The effect of GH administration on various metabolic parameters and on growth and bone age development was studied in patients with Turner's syndrome. DESIGN: Patients were treated with daily s.c. GH (20 IU/m2/week) and ethinyloestradiol p.o. (100 ng/kg/day) during the first year and with additional oxandrolone (0.125 mg/kg/day) during the second year. The responses of free fatty acids (FFA), urinary excretion of hydroxyproline (HP) and IGF-I were evaluated after short-term GH application. Glucose tolerance was investigated before any therapy, during treatment with GH and oestradiol and after adding oxandrolone, respectively. The course of growth, bone age and IGF-I levels was followed throughout the study. PATIENTS: Eleven patients with Turner's syndrome aged 12.6 +/- 1.9 years (mean +/- SD) were included. RESULTS: Free fatty acids increased significantly 4 hours after one s.c. injection of GH (0.7 +/- 0.2-1.1 +/- 0.3 mmol/l; mean +/- SD). Mean urinary hydroxyproline excretion remained unchanged after 6 weeks of GH therapy (337 +/- 206-299 +/- 145 mumol/m2/24 h), but there was a significant negative correlation between individual hydroxyproline values and the peak serum GH followed stimulation. IGF-I was in the prepubertal range and increased significantly after 3 days of GH injection (30.0 +/- 10.0-42.5 +/- 10.0 nmol/l). Growth velocity (in Turner's syndrome related SD) increased from 0.0 +/- 0.3 SD before treatment to 0.9 +/- 0.8 SD after the first year and to 3.4 +/- 1.3 SD during the second year of treatment. There was no undue acceleration of bone age. During long-term treatment, IGF-I increased significantly only when oxandrolone was added. Two patients had impaired glucose tolerance prior to GH therapy and three additional children developed impaired or abnormal glucose tolerance after GH therapy. Insulin concentrations increased significantly only after introduction of oxandrolone. CONCLUSIONS: Patients with Turner's syndrome who had lower basal IGF-I levels had significantly higher responses of IGF-I, free fatty acids and hydroxyproline (P less than 0.01 for all parameters) after short-term GH application. The data indicate adequate endocrine and metabolic responses in patients with Turner's syndrome which are the basis for growth promoting action. A considerable number of patients had impaired glucose tolerance during GH treatment.

Adolescent↗