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Biomedical subjects

A Pertzelan

Publications and source records attributed to A Pertzelan.

At least 37 records · Page 2Linked to original sources
PubMed1990

Congenital hereditary hypothyroidism--prenatal diagnosis and treatment.

Intrauterine diagnosis of congenital hypothyroidism was established on the basis of TSH concentration in amniotic fluid in the 22nd week of gestation for the offspring of a couple both known to have an iodide organification defect. Prenatal treatment consisted of intramniotic injections of 500 mcg Na-1-thyroxine, which was administered from the first amniocentesis until one week before delivery. Following delivery, the diagnosis was confirmed by the elevated level of TSH, 60.5 uU/ml, and a gradual decrease of fT4 to 0.8 ng/ml. Regular substitution therapy was commenced on the third day of life. The normal shape and location of the thyroid gland was demonstrated by Technetium scintiscan. At 18 months the infant revealed no significant deviation from normalcy in growth or mental capacity. This experience indicates that testing of amniotic fluid for TSH in the 22nd week of gestation can be diagnostic for congenital primary hypothyroidism. Furthermore, it is suggested that the treatment approach described is warranted in all cases in which there is a high risk of congenital primary hypothyroidism.

Amniotic Fluid↗
PubMed1988

Comparison of dental findings in patients with isolated growth hormone deficiency treated with human growth hormone (hGH) and in untreated patients with Laron-type dwarfism.

The effect of human growth hormone (hGH) on dental structures was investigated by comparing two groups of patients with hypopituitarism. One group of 19 patients with isolated growth hormone deficiency who received hGH replacement therapy was compared with a group of 13 patients with high immunoreactive growth hormone and IGF-I deficiency, Laron-type dwarfism, who could not benefit from hGH treatment. Plaster casts of the dentitions and panoramic radiographs were obtained from all patients and analyzed for dental age, arch length, arch circumference, and width of teeth. the main findings were that (1) hGH therapy did not accelerate dental age but enhanced bone age; (2) the mandible was significantly smaller in the untreated group but no significant difference was found between the groups in the maxilla; (3) third molars were missing in more than 90% of the patients with Laron-type dwarfism whereas hypodontia of other teeth was found in 30% of all the patients; and (4) crowding was less prevalent than expected and the mesiodistal width of the teeth seemed to be smaller.

Adolescent↗
PubMed1988

Growth hormone (hGH) secretion and turnover in three patients with Laron-type dwarfism.

The 24-h secretory pattern of hGH was studied by the aid of a continuous blood withdrawal pump in three Laron-type dwarfism (LTD) patients and compared with that in sex- and age-matched normal control subjects. It was found that the secretion of hGH was enhanced in the LTD patients, but in all three the diurnal secretory profile, as expressed by the number of pulses and the sleep-related maximal pulse, was preserved. In the younger LTD patients, women aged 19 and 21 years, the number of pulses was 9 and 7 (compared with 6 in the control subjects), the maximal hGH pulse amplitude was 164 and 280 ng/ml (compared with 135 ng/ml), the area under the curve (AUC) was 560 and 780 (compared with 268), and the average integrated concentration (A-IC) of hGH was 33.9 and 23.4 ng/ml (compared with 11.3). In the older LTD patient, a man aged 27 years, the hGH secretion was lower than that in the LTD women, but still higher than that in normal matched controls: the number of pulses was 4 (control 2), maximal pulse amplitude 67 ng/ml (control 19), AUC 231 (control 51), and A-IC 9.9 ng/ml (control 2.2). The decline in hGH secretion, which is characteristic of advancing age in normal subjects, seems to occur in LTD as well. Metabolic clearance rate (MCR) and production rate (PR) of hGH were measured in the 19-year-old female LTD patient. Her MCR was 73.4 ml/m2 per min, and her PR was 2,480 ng/ml compared with 158.3 and 839, respectively, in a normal subject. The exaggerated PR explains the elevation of plasma hGH in this syndrome and is probably the result of a lack of negative feedback due to insulin-like growth factor deficiency.

Adolescent↗
PubMed1987

The impact of long-term therapy by a multidisciplinary team on the education, occupation and marital status of growth hormone deficient patients after termination of therapy.

Forty-two GH deficient patients (14 isolated GH deficiency (IGHD), 28 multiple pituitary hormone deficiencies (MPHD), 23 males and 19 females) were evaluated after termination of hGH therapy and achievement of final height. IGHD patients were found to score higher in intelligence quotients (IQ) than the MPHD patients. The educational and occupational achievements of all patients positively correlated with their IQ level. Three patients achieved only elementary education, 26 completed high school and 13 had higher education. Thirty patients who had completed their education were employed, whereas 12 continued to study. Seventeen of the male patients and five females served in the Army. Eight patients were married and half of the single patients reported having a stable relationship with the opposite sex. The hypopituitary patients did not differ in five out of seven subscales of the human services rehabilitation scale when compared to a normal control group. These results which vary from those previously reported demonstrate the importance of long-term psychosocial counselling initiated at the time of diagnosis as part of the therapeutic approach in hypopituitary patients.

Educational Status↗
PubMed1987

Familial Hashimoto's thyroiditis with kidney impairment.

A 12 year old boy and his two sisters with Hashimoto's thyroiditis and renal impairment were studied. Three generations of this family had autoimmune thyroid disease: Graves' disease was diagnosed in the first generation, and the second and third generations had thyroid enlargement with abnormal thyroid function and immunological abnormalities. The disease in this family could not be explained simply by the types of human leucocyte antigens found. Renal disease in autoimmune thyroid disease is uncommon, treatment difficult, and the prognosis unknown. The proteinuria disappeared in all three children during the three and a half years of follow up, which implies that the renal impairment may be transitory in some patients.

Female↗
PubMed1987

Greater efficiency of human growth hormone therapy in children below five years of age with growth hormone deficiency. A 5-year follow-up study.

The effect of human growth hormone (hGH) therapy was studied in 39 prepubertal children with growth hormone deficiency (24 with isolated growth hormone deficiency; 15 with multiple pituitary hormone deficiencies) who had been treated for 2-5 years. They were divided into two groups according to age at the initiation of therapy: group A (n = 21), 0.7-4.8 years (mean chronological age, 2.9 +/- 1.4 years, and bone age, 1.2 +/- 0.9 years); group B (n = 18), 5.2-9.9 years (mean chronological age, 7.4 +/- 1.3 years, and bone age, 4.0 +/- 1.5 years). hGH was given at an initial dose of 2-4 IU 3 times/week, raised to 4-6 IU 3 times/week when growth velocity slowed. In the first year, the mean height SDS gain was 1.7 for group A and 0.8 for group B, and in the second year, 1.1 and 0.1, respectively. Subsequently this remained consistent. Bone age advancement was significantly slower in the younger group (3.8 vs. 5.8 years during 5 years) although this group had a greater catch-up response to therapy. It is concluded that hGH therapy is significantly more effective in achieving normalization of height when treatment is initiated at an early age.

Age Factors↗
PubMed1986

Responsiveness of pituitary hGH to GRH1-44 in juveniles with obesity.

The response of plasma hGH to an iv bolus injection of GRH1-44 (1 microgram/kg) was studied in 14 obese juveniles with a mean overweight of 4.7 +/- 0.05 standard deviation score (SDS). Two patterns of response were observed: in all 7 adolescents with 'simple' obesity not related to any particular disorder (group A) the response was good (a mean of 11.8 +/- 2.4 ng/ml) whereas in 6 of the 7 juveniles suffering from syndromes associated with obesity (group B) the response was poor (a mean of 3.2 +/- 1.4 ng/ml). This divergence in response could not be related to a difference in the degree of overweight. These results indicate that in group B with syndromes associated with obesity there may also be a pituitary impairment in addition to the hypothalamic defect.

Adolescent↗
PubMed1986

Recurrent hypothermia, hypersomnolence, central sleep apnea, hypodipsia, hypernatremia, hypothyroidism, hyperprolactinemia and growth hormone deficiency in a boy--treatment with clomipramine.

A boy referred at the age of 4 years because of obesity and under observation for 16 years, was found to be suffering from a hypothalamic syndrome of unknown origin characterized by progressive obesity, polyphagia, deficiency of growth and thyroid hormone, hyperprolactinemia, hypodipsia, hypernatremia and hyperosmolality without diabetes insipidus. At ages 11 and 16 there were 3 day episodes of spontaneous muscular weakness, hypersomnolence and hypothermia associated with central sleep apnea and severe bradycardia. Subsequently, decreased ventilatory responsiveness to carbon dioxide (CO2) was found as a consequence of blunted neural drive. Therapy with clomipramine HCl (Anafranil Ciba-Geigy) for 6 months led to a normalization of serum sodium levels, pulse rate, ventilatory response to dioxide with no recurrence of the central apnea within 4 following years.

Child, Preschool↗
PubMed1985

Plasma growth hormone response to synthetic GH-RH1-44 in 52 children and adults with growth hormone deficiency of various etiologies.

52 patients (42 children and 10 adults) with growth hormone deficiency (GHD), grouped into four diagnostic categories, and 6 children with constitutional short stature who served as controls were tested for plasma GH response to synthetic GH-RH1-44 given in an intravenous bolus. The response was classified into three degrees according to the magnitude of the maximal rise: Good, greater than 9 ng/ml; Partial, 3.1-9.0 ng/ml; None, less than or equal to 3 ng/ml. Among the GHD patients the highest response was observed in patients with partial growth hormone deficiency (PGHD), and 60% of the children with isolated GH deficiency (IGHD) showed an increase in plasma GH levels. Nevertheless, the response of the GHD patients was lower than that in the control group. In the children and adolescents with PGHD and IGHD the response was not age related. Among those with multiple pituitary hormone deficiencies-idiopathic (MPHD-ID) there was no response in the adolescents although a hypothalamic disorder had been documented by other tests. Among those with MPHD-organic (MPHD-ORG) the GH-RH stimulated GH secretion in the patients with glioma, who had received only irradiation treatment, and in the youngest of the patients with craniopharyngioma. Of the 10 young adults tested none showed a good response. It is concluded that GH-RH is useful in differentiating between GH deficiency of hypothalamic origin and that of pituitary origin, and in selecting those patients who might benefit from long-term treatment with GH-RH in the future.

Adolescent↗
PubMed1985

Human growth hormone gene deletion without antibody formation or growth arrest during treatment--a new disease entity?

Using restriction endonuclease analysis of genomic DNA hybridized to a human chorionic somatomammotropin (hCS) complementary (c)DNA probe, we studied four young Jewish patients with isolated growth hormone deficiency (IGHD), and 15 family members. One family originated in Iraq, two in Yemen and one in Iran. Each patient was homozygous for a deletion of approximately 7.5 kilobases, which included the hGH-N gene. Three of the deletions were associated with the same restriction fragment length polymorphism haplotype, while the deletion in the child of Iranian descent was associated with a different haplotype. All the patients were treated with three injections per week of pituitary human growth hormone (hGH) for periods of 2 1/2 to 14 1/2 years. All had a good growth response. Three reached normal and one almost normal height. Repeated serum analyses revealed absence of anti-hGH antibodies. Thus, the presently described patients differ from those previously reported from Switzerland, Argentina and Japan, all of whom developed anti-hGH antibodies during treatment, with resultant slowing or arresting of growth. Expression of heterozygosity in family members was variable with regard to stature, hGH reserve and insulin-like growth factor I (IGF-I) levels. It is hypothesized that hGH-N gene deletion is not the sole determinant of immune response during hGH treatment, and that the difference between the current series and other cases needs further investigation.

Autoantibodies↗
PubMed1984

Differential diagnosis between hypothalamic and pituitary hGH deficiency with the aid of synthetic GH-RH 1-44.

Synthetic GH-RH 1-44 administered as an intravenous bolus (1 microgram/kg) evoked a marked hGH rise (greater than 20 ng/ml) in three children with constitutional short stature and in two of eight children diagnosed as having hGH deficiency by insulin hypoglycaemia and/or clonidine tests. As judged by the intensity of the hGH response to the dose employed and the peak time, GH-RH 1-44 may be as potent as GH-RH 1-40 in children. It is concluded that GH-RH is an important addition to the endocrine armamentarium, providing the means for differentiation between hypothalamic and pituitary hGH deficiency in a simple test which is devoid of side effects.

Adolescent↗
PubMed1984

Treatment of precocious puberty with LHRH analogue in combination with cyproterone acetate-further experience.

Six girls and one boy with precocious puberty were treated with a superactive LHRH analogue (D-TRP6-LHRH) for periods ranging from 1 year to 2 years and 3 months. In the first phase of the treatment it was administered in combination with cyproterone acetate (CyA) to counteract an early stimulatory effect until inhibition of gonadotrophin secretion was achieved. The gonadotrophin-dependent signs i.e. gonadarche, showed sustained arrest and even regression. Gonadal sex steroids decreased but the adrenal androgens were unaffected. In four patients who showed progression of the angrogen-dependent signs (adrenarche), despite suppression of gonadotrophins, increasing the dosage of the LHRH analogue was ineffective and combined therapy with CyA was reinstituted in three of them because of accelerated growth and bone maturation. It is concluded that at present the treatment of choice for precocious puberty is the daily administration of a superactive LHRH analogue such as D-TRP6-LHRH, together with CyA in the initial stage, and at a later state if adrenarche progresses too rapidly.

Androgens↗
PubMed1984

Defect of human growth hormone receptors in the liver of two patients with Laron-type dwarfism.

Liver microsome pellets prepared from tissue obtained by elective open biopsy from two patients (aged 4 and 26 years) with Laron-type dwarfism (LTD) showed no specific binding of 125I-hGH (human growth hormone). In contrast, 31 assays of liver microsomes obtained immediately after clinical death from 6 healthy subjects (kidney transplantation donors with a mean age of 24 years) showed a mean specific binding of 14% (range 7.9 to 24%). We interpreted these findings as evidence that in patients with LTD there is a defect in the hGH receptors of the liver and a consequent lack of somatomedin generation. The fact that the liver microsomes from the two LTD patients showed active specific binding of 125I-insulin suggest that, in this syndrome, it is only the receptors for hGH that are defective.

Adolescent↗
PubMed1983

Effect of human growth hormone therapy on penile and testicular size in boys with isolated growth hormone deficiency: first year of treatment.

The response of genital and gonadal growth during the first year of treatment with human growth hormone (hGH) was studied in 20 boys with isolated growth hormone deficiency (IGHD) (11 of hereditary origin and 9 sporadic cases). Prior to hGH treatment, 13 of the 15 prepubertal boys had a penis length below the normal mean, 3 of which were more than 2 SDS below the mean. The boys with hereditary IGHD had a greater deficit in penile size than did the sporadic cases. hGH treatment improved the penile length in all but two boys aged 14 and 15 yr, and led to growth up to normal size in the three boys with very small penises. Three of the hereditary IGHD patients had subnormal testes and all of the other prepubertal boys had a testicular volume in the normal range. hGH treatment increased testicular size, particularly in the prepubertal boys. Of three additional untreated adults with IGHD, one had a subnormal-size penis and two had penises of low-normal size. Our findings constitute further evidence that hGH deficiency is associated with decreased penile growth and, to some extent, decreased testicular size, and that hHG treatment improves the growth of the genitalia and gonads. Since these effects were also observed in prepuberty, it seems that not all the hGH or, rather, somatomedin effect on sex organs is androgen mediated.

Adolescent↗
PubMed1982

A comparative study of the effect of oestrogen substitution therapy on breast development in girls with hypo- and hypergonadotrophic hypogonadism.

During treatment of girls with oestrogen deficiency we observed different patterns of breast development in response to therapy. The forty-five girls studied fell into four groups: Group A, gonadal dysgenesis; Group B, isolated gonadotrophin deficiency; Group C, multiple pituitary hormone deficiencies; Group D, congenital adrenal hyperplasia (17-alpha-hydroxylase deficiency). Treatment with oestrogen was given in an identical manner to all. In the patients with gonadal dysgenesis, in whom the hypothalamic-pituitary function was normal, treatment led to full breast development. In isolated gonadotrophin deficiency and multiple pituitary hormone deficiency breast development was incomplete even after 3 years or more of oestrogen treatment. The conspicuous difference in the hormonal status is that the latter two groups lack gonadotrophins, while in gonadal dysgenesis these hormones are grossly elevated. Our conclusion is that gonadotrophins play an important role in mammary gland development, a finding not previously described. In the girl with 17-alpha-hydroxylase deficiency we observed that cortisol was necessary, in addition to sex hormones, for normal breast development.

Adolescent↗