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Biomedical subjects

R Kauli

Publications and source records attributed to R Kauli.

17 recordsLinked to original sources
PubMed1992

Social, educational and vocational status of 48 young adult females with gonadal dysgenesis.

OBJECTIVE: The purpose of this study was to evaluate the educational, vocational and social function of young adults with gonadal dysgenesis. DESIGN: Forty-eight female patients with gonadal dysgenesis (17, 45XO; 26, 45XO/46XX or other mosaics; and five pure gonadal dysgenesis) followed by our multidisciplinary team from childhood, were re-evaluated in adult age. RESULTS: Mean age +/- SD at diagnosis was 11.4 +/- 5.0 years and mean age at the time of survey was 29.6 +/- 6.3 years. The mean final height for the patients was 145.5 +/- 8.3 cm (range 134-170 cm). Mean verbal IQ (WISC-R) for the 39 subjects tested was 101.4 +/- 20.7 and mean performance IQ was 86.8 +/- 17.7. No difference in verbal IQ levels was found between the various karyotype groups. Twenty-five had an academic education. All were employed except for one housewife; 37 work in white collar professions. A significant correlation was found between verbal IQ and education (P = 0.005) and between verbal IQ and profession (P = 0.005). Twenty-three served in the army. Fourteen are married: three have an adopted child and two a child born after in vitro fertilization (IVF); others are waiting for IVF or adoption. Five patients had some form of psychiatric problem that required psychiatric or psychological treatment in the past (two had transitory anorexia nervosa and three behavioural problems). Sixty-three per cent reported having wide and satisfactory social relations but limited to female friends. CONCLUSION: Positive adjustment in the professional area and fair adjustment in the social area were not related to physical stigmata or to any other independent variable tested, but rather to intellectual ability and a high degree of achievement motivation.

Adult↗
PubMed1979

Effect of human growth hormone therapy on head circumference in children with hypopituitarism.

Head circumference was measured before and during hGH therapy in fourteen children with isolated growth hormone deficiency (IGHD) and in twenty-one children with multiple pituitary hormone deficiencies (MPHD). In both groups there was a retardation in growth of the neurocranium, more marked in the children with IGHD, which was less than the retardation in linear height. In the group with IGHD, initiation of hGH therapy before a chronological age of 5 and a bone age of 3 had been reached led to a rapid catch-up in cranial growth with normalization of the head size. In older children the induction of head growth was similar to that achieved by the long bones but without a true catch-up phenomenon. In three adults with hereditary IGHD without therapy or with irregular treatment during late puberty, the head circumference was below normal range. In view of the possible role played by development of brain tissue upon cranial size, the importance of early diagnosis and initiation of therapy in infants and young children with a deficiency of hGH is stressed.

Adolescent↗
PubMed1979

XY gonadal dysgenesis associated with hGH and gonadotrophin deficiencies.

A girl of remarkably short stature, referred for investigation with the diagnosis of gonadal dysgenesis and the finding of a male karyotype, proved to be deficient in growth hormone and gonadotrophin secretion, and was treated with growth and sex hormones. It was concluded that this case demonstrates an apparently casual coincidence of pituitary insufficiency with XY gonadal dysgenesis, evidently the first to be reported.

Adolescent↗
PubMed1979

Linear growth in hypopituitary patients treated with hGH after age fifteen.

Two groups of hHG deficient adolescents (isolated growth hormone deficiency: 11 patients and multiple pituitary hormone deficiency: 20 patients) receiving hGH therapy were analyzed for their linear growth response. It was found that even at a chronological age of 15 years or more, growth can be markedly enhanced, depending upon the bone age and pubertal stage in the IGHD patients and upon optimal balance between hGH and sex hormones in the MPHD patients.

Adolescent↗
PubMed1978

Ectopic thyroid gland. A clinical study of 30 children and review.

Of 108 children being treated at our Institute for primary (nongoitrous) hypothyroidism, tests with radioactive iodine 131I uptake showed that 26 of them (24%) had an ectopic thyroid gland. Four euthyroid children also had anterior swellings of the neck which, in each case, proved to be an ectopic thyroid gland. Of the 30 children studied, 20 were girls and 10 were boys. Nine patients were diagnosed within the first year of life. Growth retardation, manifest in 20 patients, was the most common clinical finding at the time of diagnosis. Delayed bone age was a feature in all of them. Growth, after diagnosis was within normal limits in 83% of the infants who were treated within the first two years of life; only 50% of the children diagnosed later grew within normal limits. Similarly, mental function was best preserved in those patients in whom treatment was initiated within the first two years of life.

Age Determination by Skeleton↗
PubMed1978

Pubertal development in the Prader-Labhart-Willi syndrome.

The sexual maturation in the Prader-Labhart-Willi (PLW) syndrome was investigated in 14 patients, 10 females and 4 males. A wide variability in the pattern of pubertal development was found including delayed puberty in 5 patients and normal puberty in 4 patients; sexual precocity was also observed in 5 patients, true precocious puberty in one patient and incomplete sexual precocity in the form of precocious pubarche in 4 patients. In 5 patients, 3 of them with precocious pubarche, the appearance of the pubertal signs was followed by a delay or arrest in their future development. An LH-RH stimulation test was performed in 11 patients. In the 6 patients who eventually developed normal puberty, the basal levels and the peak responses of both LH and FSH were within the range of those observed in normal controls of the same pubertal stage. In 4 patients showing marked delay or arrest of puberty, the basal levels were normal or low and the responses of LH and FSH to LH-RH were blunted. Priming with repeated LH-RH stimulation in one of the male patients led to an augmented LH response, suggesting a hypothalamic hypogonadotrophism. It is concluded that the lack of uniformity in the pattern of sexual maturation in the PLW syndrome is due to a variability in the location and extent of a hypothalamic lesion, which may comprise an active process continuing beyond the perinatal period.

Adolescent↗
PubMed1978

Plasma insulin response to arginine stimulation in children and adolescents with constitutional short stature according to sex, age, sexual development and skinfold thickness.

The plasma insulin response to a standard arginine stimulation test was studied in 247 children and adolescents (177 males and 70 females) with constitutional growth retardation as compared with the response obtained in a matched group of 42 normal subjects and a group of 57 obese subjects. When the insulin response was related to pubertal ratings in the children and adolescents with growth retardation, it was found that the mean fasting levels and mean peak response both rose with the progression of puberty. This tendency was more pronounced in the females. When the insulin response was related to the degree of adiposity as measured by the degree of subscapular skinfold thickness, it was found that the greater the adiposity, the greater was the mean response, with the females showing higher levels than the males in each group. Even when the response in the two sexes was compared in subjects of a similar age and skinfold thickness, the females had a higher mean peak insulin response than did the males.

Adolescent↗
PubMed1977

The LH and FSH responses to LH-releasing hormone (LH-RH) in girls with true precocious puberty treated with cyproterone acetate.

Ten girls with precocious puberty ranging in age from 7 to 10 7/12 years who were treated with oral cyproterone acetate on a long term basis, were subjected to LH-RH tests, prior to and 3 to 16 months after the institution of therapy. Cyproterone acetate was given in doses from 60 to 153 mg/m2, which proved to be clinically effective, as evidenced by the slowing down of sexual maturation. The basal levels of LH were found to be unaffected by therapy and corresponded to the pubertal stages of the individual girls. The peak increment of LH after LH-RH stimulation was markedly suppressed by the therapy. FSH secretion and its responsiveness to LH-RH was not affected by cyprotereone acetate. The basal levels of FSH were higher during therapy than before, but the peak FSH increment remained the same. An escape phenomenon in the LH peak response was evident in 2 patients upon retesting after prolonged therapy. It is possible that the antigonadotrophic action of cyproterone acetate is due to its progestational nature.

Child↗
PubMed1977

Hypothyroidism due to ectopy in siblings.

Two families each had two siblings with hypothyroidism due to ectopy and hypoplasia of the thyroid. A genetic factor controlling normal thyroid development and descent may be responsible, and the importance of plasma thyroid-stimulating hormone estimation in borderline hypothyroid cases is emphasized. We suggest screening of siblings of patients with ectopic thyroid for hypothyroidism.

Child, Preschool↗
PubMed1977

Gonadal function in Bloom's syndrome.

Five patients with Bloom's syndrome aged from 2 8/12 to 27 years, all of whom had hypogonadism, were subjected to an i.v. LHRH test and two of them to an i.m. HCG test. There was increased responsiveness of plasma LH and FSH, indicating that the hypogonadism is primary in nature and of early development. The tubular element of the testis seems to be mainly affected, as indicated by the particularly high FSH response to LHRH stimulation, a history of sterility in the two adult patients and documented azoospermia in one of them. The Leydig cells seem to be less affected and secrete sufficient androgens to enable puberty within acceptable normal limits. Hypogonadism seems to be a major characteristic of Bloom's syndrome.

Abnormalities, Multiple↗
PubMed1976

Comparative HGH response to i.v. glucagon and i.v. arginine stimulation tests in children and adolescents.

Thirty-seven children and adolescents of several diagnostic entitites (constitutional growth retardation, diabetes mellitus and pituitary insufficiency) were tested with an i.v. bolus injection of glucagon for plasma human growth hormone (HGH) response. Most of the subjects were also tested for the same purpose by the arginine stimulation test, and the data were compared. It was found that i.v. glucagon is a potent stimulus of human growth hormone release. The HGH is released in two peaks, the first one occuring within 30 min, most probably by a direct effect. The second peak occurs after 120 min, most probably as a secondary effect caused by the drop in blood glucose after its initial rise, which is induced by glucagon. The peak concentrations of HGH induced by glucagon, were very similar to those provoked by i.v. arginine in the same subjects.

Adolescent↗
PubMed1976

Cyproterone acetate in treatment of precocious puberty.

Twenty-nine children (23 girls, 6 boys) with precocious puberty were treated with cyproterone acetate for various periods of time ranging from 6 months to 3 years 4 months. They received an oral dose ranging from 70-150 mg/m2 per day, or an intramuscular depot injection once a fortnight or once a month at a dose ranging from 107-230 mg/m2. Both forms of therapy were found to suppress the signs of sexual maturation, but the oral form proved to be superior. Only the younger patients with a bone age under 11 years showed a beneficial effect upon linear growth and bone maturation. No side effects were noted, but additional advantageous effects upon behaviour and sociability were. It is concluded that at present cyproterone acetate by mouth is the drug of choice in the treatment of precocious puberty. The treatment should be initiated as early as possible to attain maximum benefit.

Administration, Oral↗
PubMed1976

Intermittent treatment with human growth hormone (GH) in isolated GH deficiency and in multiple pituitary hormone deficiencies.

The results of intermittent GH treatment of 3-7 1/2 years duration in seven patients with isolated GH deficiency (IGHD) and five patients with multiple pituitary hormone deficiencies (MPHD) are presented. This therapeutic schedule was found to be comparably effective to those using a continuous-administration schedule. In contradistinction to the findings obtained with the latter, there was no progressive decline in growth velocity. The patients with IGHD were found to respond better than the patients with MPHD both in the first course as well as in consequent courses. In the intervals between courses, the growth velocity was less than in the pretreatment period in both groups. It is concluded that optimal results can be obtained by instituting an initial course of continuous treatment of 1 year's duration for the IGHD patients and of 2 years' duration for the MPHD patients, followed by an intermittent therapeutic schedule. This regime not only leads to the same growth achievement obtained with long-term continuous administration of GH but allows conservation of supplies of this very scarce hormone.

Adolescent↗
PubMed1975

The LH response to LH releasing hormone in children with true isosexual precocious puberty treated with cyproterone acetate.

Fourteen girls and one boy with isosexual precocious puberty were submitted to LHRH stimulation tests, during and without therapy with cyproterone acetate. In addition, fourteen girls with isosexual precocious puberty not receiving any therapy were tested and served as controls. It was found that cyproterone acetate induces suppression of the responsiveness of the pituitary gland to secrete LH on LHRH stimulation. Daily oral therapy was found to be more effective than the regimen of intramuscular depot injections. These findings demonstrate that cyproterone acetate has an antigonadotrophic effect.

Administration, Oral↗