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Biomedical subjects

A Pertzelan

Publications and source records attributed to A Pertzelan.

At least 55 records · Page 3Linked to original sources
PubMed1982

Late-onset type of 21-hydroxylase deficiency in childhood.

It was recently proposed that congenital and late-onset 21-hydroxylase deficiency are caused by two distinct recessive allelic genes. Although both genes are associated with the HLA system, only the late-onset type was found to be linked with the antigens B14 and DR1. Biochemical and immunological studies were conducted in two families with children suffering from 21-hydroxylase deficiency of postnatal onset. In the first family, of Jewish Ashkenazic origin, a 2 1/2-yr-old girl presenting with clitoromegaly was found to be homozygous for the antigens B14 and DR1. In the second family, of Arabic origin, all the children, their parents and a paternal aunt were clinically and/or biochemically affected, carrying the B14, but not the DR1 antigen on one or both HLA haplotypes. These data suggest that some cases of simple virilizing 21-hydroxylase deficiency in childhood are related to the late-onset type of 21-hydroxylase deficiency.

Adrenal Hyperplasia, Congenital↗
PubMed1981

Occurrence of four types of growth hormone-related dwarfism in Israeli communities.

Data are presented on 121 dwarfed patients belonging to 98 Israeli families with 4 types of dwarfism related to deficiency or in activity of human growth hormone (hGH): isolated growth hormone deficiency (IGHD), partial hGH deficiency (pIGHD), multiple pituitary hormone deficiencies (MPHD) and Laron-type dwarfism (LTD). These series are believed to comprise most of the dwarfs of these types in Israel; however, their distribution among the various ethnic communities varies greatly: LTD (15 families) is confined to a few communities of Oriental Jews; only 3 of 30 families with IGHD, but 7 of 10 families with pIGHD, are Ashkenazi, whereas the clinic distribution of 42 families with MPHD corresponds roughly to that of the general population. These data seem to reflect the role of genetic factors in the etiology of the various types of dwarfism: the stronger the genetic component, the greater is its deviation from random occurrence among the various communities.

Dwarfism, Pituitary↗
PubMed1980

Puberty in Laron type dwarfism.

The onset and progress of puberty was followed in 18 patients (7 males and 11 females) with Laron-type dwarfism (LTD). The boys had delayed puberty, testicular enlargement occurring between 12--14 years being the first sign. The first conscious ejaculation occurred between 17--21 years and full maturity was reached after the age of 22. In girls menarche occurred between 13--14 years and full maturity was reached between 16-19 years. Two patients--one male and one female--have children.

Adolescent↗
PubMed1980

Growth hormone resistance.

Biological ineffectiveness of endogenous or exogenous growth hormone (GH) (i.e. a state or resistance) has been reported in several clinical conditions. The most typical form is Laron-type dwarfism, a hereditary disease which is clinically undistinguishable from isolated GH deficiency and which is characterized by high levels of plasma hGH but low somatomedin (SM). It is shown that the GH molecule binds normally to human liver receptors proving its normalcy. Thus the disease is due to an inability to generate active SM. States of resistance to exogenous GH by receptor occupancy exist when endogenous hormone is secreted in large amounts (newborns, acromegaly) or even normal amounts. Endorgan resistance to SM and GH such as in Pygmies represent an additional type. GH resistance is also induced by a rise in antibodies to GH by use of an impure or altered preparation or in a rare form of lack of immunotolerance to hGH, or by an enhancement of SM inhibitors as is seen in chronic renal failure or corticosteroid overdosage.

Dwarfism↗
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↗
PubMed1979

Effect of triiodothyronine administration on the plasma TSH and prolactin responses to TRH in patients with hypothalamic-pituitary insufficiency.

A study was carried out in 10 patients with multiple pituitary hormone deficiencies to determine the response of thyroid-stimulating hormone (TSH) and prolactin (PRL) to thyrotropin-releasing hormone (TRH) and their suppressibility by treatment with triiodothyronine (T3) given at a dose of 60 microgram/day for 1 week. In 3 patients the basal tsh values were normal and in 7 patients, 2 of whom had not received regular thyroid replacement therapy, they were elevated. The response of TSH to TRH was normal in 6 patients and exaggerated in 4 (of these, 1 patient had not received previous substitution therapy and 2 had received only irregular treatment). The basal and stimulated levels of TSH were markedly suppressed by the treatment with T3. The basal PRL levels were normal in 7 and slightly elevated in 3 patients. The response of PRL to TRH stimulation was exaggerated in 2, normal in 6 and absent in 2 patients. The basal PRL levels were not suppressible by T3 treatment but in 4 patients this treatment reduced the PRL response to TRH stimulation. From these findings the following conclusions are drawn: (1) T3 suppresses TSH at the pituitary level, and (2) the hyperreactivity of TSH to TRH and the low set point of suppressibility are probably due to a lack of TRH in the type of patients studied.

Adolescent↗
PubMed1978

Gonadotrophin release in untreated congenital virilising adrenal hyperplasia.

A 9.9-year-old boy and a 9.8-year-old girl with virilising congenital adrenal hyperplasia were subjected to an IV LH-RH (luteinising hormone-releasing hormone) test (so microgram/m2 before initition of therapy with corticosteroids. The pattern of response of LH and follicle-stimulating hormone to LH-RH was found to correspond to the stage of their precocious sexual development and advanced bone age, but not to their chronological age. This finding has implications with regard to the mechanism controlling gonadotrophin secretion at puberty.

Adrenocortical Hyperfunction↗
PubMed1977

The combined effect of growth hormone and methandrostenolone on the linear growth of patients with multiple pituitary hormone deficiencies.

Six patients with multiple pituitary hormone deficiencies (MPHD) were initially treated with separate courses of methandrostenolone and growth hormone and later with the two drugs combined. During the basal period the mean growth velocity was 2.8 cm/year. Methandrostenolone alone, 0.02-0.05 mg/kg/day given to four of the patients led to an acceleration of the growth velocity to a mean of 5.0 cm/year, while growth hormone 6 mg/week alone accelerated the growth rate to a mean of 6.0 cm/year. Combined therapy led to a striking increase in the mean growth rate to 9.3 cm/year. The shortcoming of the combined growth hormone-androgen therapy was the fast acceleration in skeletal maturation even after short-term administration.

Adolescent↗
PubMed1977

Prolactin secretion in girls with isolated gonadotrophin deficiency.

Plasma prolactin, basal levels and the response to an i.v. injection of TRH (100 microgram/m2) was determined in five girls with isolated gonadotrophin deficiency of hypothalamic origin before and after at least 3 months cyclic replacement therapy with conjugated oestrogens (1.25 mg/day). The basal plasma prolactin levels were similar during both tests, however, during oestrogen therapy the mean peak response to TRH almost doubled and the sum of all the values obtained (basal, +15, +30 and +60 min) was significantly higher. It is of note that even upon prolonged oestrogen deprivation the releasable prolactin response to TRH was adequate.

Adolescent↗
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↗