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Biomedical subjects

R Rappaport

Publications and source records attributed to R Rappaport.

At least 145 records · Page 8Linked to original sources
PubMed1983

Leydig-cell function in children after direct testicular irradiation for acute lymphoblastic leukemia.

To assess the effect of testicular irradiation on testicular endocrine function, we studied 12 boys with acute lymphoblastic leukemia who had been treated with direct testicular irradiation 10 months to 8 1/2 years earlier. Insufficient Leydig-cell function, manifested by a low response of plasma testosterone to chorionic gonadotropin or an increased basal level of plasma luteinizing hormone (or both), was observed in 10 patients, 7 of whom were pubertal. Two of these patients had a compensated testicular endocrine insufficiency with only high plasma concentrations of luteinizing hormone. Testosterone secretion was severely impaired in three pubertal boys studied more than four years after testicular irradiation. A diminished testicular volume indicating tubular atrophy was found in all pubertal patients, including three who had not received cyclophosphamide or cytarabine. These data indicate that testosterone insufficiency is a frequent complication of testicular irradiation, although some patients continue to have Leydig-cell activity for several years after therapy.

Adolescent↗
PubMed1983

Persistence of Müllerian ducts in male pseudohermaphroditism, and its relationship to cryptorchidism.

Twenty-two cases of male pseudohermaphroditism with persistence of Müllerian duct derivatives were reviewed. In 12 cases of mixed gonadal dysgenesis and five cases of dysgenetic male pseudohermaphroditism, testosterone-dependent steps of sex differentiation were also impaired, and testicular dysgenesis was prominent, even in the younger age group. The capacity of testes to inhibit the ipsilateral Müllerian duct was correlated with testicular descent: it is suggested that testicular dysgenesis explains both the functional and topographical testicular abnormalities observed in these male pseudohermaphrodites. Five other patients were cryptorchid but externally normally virilised, persistence of Müllerian derivatives representing their only abnormality of sex differentiation. Testicular structure was usually normal or showed changes attributable to long-standing cryptorchidism. It is suggested that in these patients, persistence of Müllerian derivatives is due to an inborn error of metabolism, affecting the binding of anti-Müllerian hormone to its receptor and that failure of testicular descent is caused by mechanical restraint by the abdominal Müllerian organs.

Cryptorchidism↗
PubMed1982

Endocrine aspects and tumoral markers in intracranial germinoma: an attempt to delineate the diagnostic procedure in 14 patients.

This work outlines the endocrine abnormalities associated with intracranial germinomas (14 patients before treatment). Diabetes insipidus of various intensity was present in all cases. Adipsia is often present as well. In six patients, the first neuroradiologic examination after the onset of DI was normal. Growth hormone secretion was deficient in 11 of 13 patients. Abnormalities of TSH response to TRH were present in nine of ten (four insufficient and five exaggerated responses to TRH). Anterior pituitary dysfunction could not be predicted by the tumor site as determined by radiologic criteria. Tumoral markers have also been studied. Elevated plasma tumoral markers were found in four patients of 11 studied. Tumoral germinoma cells were present in CSF in five patients of ten, in one of them before radiologic confirmation. Pertinent endocrine evaluation and search for tumoral markers was of great value in systematic follow-up of patients with central diabetes insipidus, and could lead to early diagnosis and treatment of the tumor.

Adolescent↗
PubMed1982

Effect of hypothalamic and pituitary irradiation on pubertal development in children with cranial tumors.

The purpose of the present study was to report on gonadotropin function and puberty of a large group of children treated by cranial irradiation for cranial and neck tumors and medulloblastoma. Forty-five children of pubertal age were investigated. The mean interval time since radiation was 5 2/12 yr. Gonadotropin and gonadal function were evaluated by clinical criteria, plasma sex steroids, and plasma LH and FSH responses to LRH. Puberty was complete or progressing normally in 31 cases and was abnormal in 14 cases. Severe gonadotropin deficiency, with lack of or slow progression of puberty and decreased LH and FSH responsiveness to LRH, was observed in 5 cases; 2 of these had moderately elevated plasma PRL levels. Secondary amenorrhea or lack of pubertal progression was found in 5 other cases. GH deficiency was associated with gonadotropin deficiency in 9 of these 10 cases. Adrenal function, estimated by basal dehydroisoepiandrosterone, dehydroisoepiandrosterone sulfate, and estrone, was normal according to pubic hair stages. In conclusion, complete or partial gonadotropin deficiency can be the consequence of cranial irradiation in children receiving 6000 rads or less. It is usually associated with GH deficiency. The site of the damage on the pituitary gland or the hypothalamus remains to be demonstrated.

Adolescent↗
PubMed1982

[Genetic of the 21 hydroxylase deficiency].

A dose genetic linkage exist between the HLA complex (especially HLA-B), and the 21 hydroxylase deficiency form of adrenal hyperplasia. By their polymorphisms HLA antigens can be used as "markers" to follow the segregation of 21-OH deficiency in families, to diagnose the heterozygous offspring and eventually to offer a prenatal diagnosis to couples at risk. In late onset forms of 21-OH deficiency the same genetic linkage has been demonstrated with a high frequency of HLA-B14 antigen.

Adrenal Hyperplasia, Congenital↗
PubMed1982

[Continued evaluation of results of surgical management of female congenital adrenal hyperplasia. Report on 48 cases (author's transl)].

In a continued surgical and medical evaluation of the surgical management of female congenital adrenal hyperplasia, 48 girls were studied. Clitoroplasty (relocation and recession) was considered satisfactory in 22 out of 26 children of pubertal age. Vaginoplasty results were rated as excellent in 8 cases, and fair in 19 cases. Six patients indicated to have normal sexual intercourse. However a second surgical procedure will be necessary in 16 cases (30%) during or at the end of their puberty. These cases are among the more severely masculinized with a vaginal opening located at the upper part of the urethra. A prolonged follow-up is necessary in order to perform an adequate evaluation of these procedures, some of which have to be repeated at the age of adolescence.

Adolescent↗
PubMed1982

[Precocious puberty. Comment on the diagnostic conditions and etiological aspects].

The present review is based on the retrospective study of 124 children with precocious puberty, 92 girls and 32 boys. In girls, the analysis of the clinical initial presentation has shown that premature pubarche (n = 18), premature adrenarche (n = 2) or isolated menstruations (n = 3) must be ruled out, as these symptoms can remain isolated for more than a year. However, in most cases the presence of growth acceleration and vaginal estrogenisation was of major diagnostic value. Bone maturation, although generally accelerated, can be normal in recently developed puberty. Precocious puberty may proceed by steps, with complete disappearance of physical signs in the intervals. Organic causes were found in 31% of the girls, and 44% of the boys with some characteristic features as rapid progression, and elevated LH response to LRF stimulation. Main causes were glioma of the optic chiasma (n = 11), 3rd ventricule invasive tumors, hamartoma (n = 8). The latter should be looked for by a non invasive procedure as the CT scan. In girls, precocious puberty with very high circulating estrogen levels was observed as part of a McCune-Albright syndrome. As the effect of precocious puberty on the final adult height is variable, the evaluation of therapeutic results remains uncertain. Medroxyprogesterone as well cyproterone acetate have not been fully efficient in controlling bone maturation. More recently, and still controversial, the treatment with long acting LRF analogues might provide a more satisfactory statural prognosis.

Bone Development↗
PubMed1981

Aniridia, male pseudohermaphroditism, gonadoblastoma, mental retardation, and del 11p13.

A 20-month-old male patient was referred because of severe growth and mental retardation, bilateral glaucoma, hypospadias, and cryptorchidism. Karyotyping revealed a de novo complex three-chromosome rearrangement as well as deletion of band 11p13:46,XY,t(4;7;15)(q212;p14;q26)del(11)(p13p14). Trabeculectomia revealed bilateral aniridia. Surgery on the genitalia revealed male pseudohermaphroditism and bilateral gonadoblastoma. The kidneys were normal. A deficiency in catalase (CAT) activity allowed the regional assignment of the CAT gene to band 11p13.

Chromosome Deletion↗
PubMed1980

Somatomedin activity and growth hormone secretion. I. Changes related to body weight in anorexia nervosa.

Anorexia nervosa in childhood and adolescence, associated with impaired growth can be considered as a form of chronic malnutrition. Twelve patients aged 11 to 17 years were investigated. In spite of increased GH secretion, plasma somatomedin activities were diminished in 8 cases. Plasma T4, T3 and arginine stimulated insulin secretion were also decreased. In six patients who gained weight a significant negative correlation was found between weight deficit and plasma somatomedin activity. Prolonged administration of growth hormone in one case did not stimulate the generation of somatomedin activity. Nutrition and increased insulin secretion could plan a role in changes observed during recovery.

Adolescent↗