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Biomedical subjects

R H Ruvalcaba

Publications and source records attributed to R H Ruvalcaba.

At least 37 records · Page 2Linked to original sources

Discordance of congenital bilateral anorchia in uniovular twins: 17 years of observations on growth and development.

We have reported observations of growth and development made over a 16-year period on a subject who suffered bilateral congenital anorchia and his uniovular twin brother. The anorchic individual was treated with oxandrolone for a period of 3.6 years prior to the testosterone replacement therapy. The oxandrolone therapy produced a significant increment in the height age without excessive gain in bone age. At the age of 20.9 years the anorchic twin is 5.4 cm taller than his normal twin. Other differences observed between the twins reported here include the following: the anorchic subject had longer extremities, greater biacromial and biiliac distances and a smaller penis than his normal sibling. Oxandrolone therapy does appear to modify the ultimate height in children.

Adolescent↗

Prevalence of thyroid disorder in Down syndrome.

Thyroid function has been studied in 121 patients between 13 and 48 years old with proven Down syndrome. Chemically, hypothyroidism was found in 17% and hyperthyroidism in 2.5% of the patients; 18% of patients had goiter. Thyroid antibodies were detected in 33% of subjects studied. The abnormal findings were almost equally distributed between the sexes above 20 years of age; however, females had significantly more thyroid disease than males in the younger age group.

Adolescent↗

X-linked mental deficiency megalotestes syndrome.

Members of two kindreds had mental deficiency and megalotestes. The familial occurrence suggests an X-linked recessive trait or autosomal-dominant trait with male sex limitation. The increased testicular size was apparently due to excess fluid content.

Abnormalities, Multiple↗

Studies of anabolic steroids. VI. Effect of prolonged administration of oxandrolone on growth in children and adolescents with gonadal dysgenesis.

Twenty-five patients with Turner Syndrome were treated with oxandrolone for six or more months. Mean growth velocity for the first year of treatment was significantly greater than pretreatment control growth velocity. Overall, there was no excessive skeletal maturation. Mean "final" height in nine XO patients (146.4 cm) was significantly greater than mean adult height of an estrogen-treated control group (140.3 cm), while that for five mosaic patients (148.2 cm) was not significantly different from a mean untreated mosaic adult height (145.2 cm).

Age Determination by Skeleton↗

Children who age rapidly--progeroid syndromes: case report of a new variant.

A case report of an apparently unique progeroid syndrome is reported here. Major clinical characteristics included growth failure with onset of senility in the early teens, atrophic skin, hypogonadism, and retinal and vascular sclerosis. Mental retardation was present, but could have been attributable to trauma. The replicative life spans of several lines of cultured skin fibroblasts were within the normal range, in contrast to the limited life-spans of such cultures from patients with Werner's syndrome, whom our patient most closely resembles. Also, in contrast to Werner's syndrome, our patient did not have white or gray hair or cataracts.

Adult↗

Androgen Therapy in an "excessively" tall boy.

An "excessively" tall, early pubertal boy was treated with androgen for a period of 33 months. Sexual development and fusion of epiphyses was accelerated with achievement of shorter stature than that predicted prior to therapy. Testicular size did not appear to be impaired by the therapy. Androgen administration in this young boy appeared to be effective in shortening the eventual adult stature.

Adolescent↗

Some aspects of carbohydrate metabolism in Prader-Willi syndrome.

Three patients with Prader-Willi syndrome are reported. The subjects presented chemical diabetes mellitus. All patients were hypersentsiive to exogenous insulin and they showed poor adrenal medullary response to hypoglycaemics. It was postulated that the poor adrenal medullary response to the insulin injection may be a contributing factor in the excessive hypoglycaemic response, and that the diabetes mellitus observed in the patients could be due to inactivation of endogenous insulin.

Adolescent↗

Epilepsy and abnormal calcium metabolism in institutionalized mentally retarded patients.

A group of epileptic and nonepileptic patients from an institution for mentally retarded persons was surveyed for roentgenographic and biochemical abnormalities of calcium metabolism. Osteoporosis, hypocalcemia, and increased alkaline phosphatase were found to be significantly increased in incidence in the epileptic group. The only significant difference among the osteoporotic and nonosteoportic epileptic patients was the increase fo the alkaline phosphatase in the former. Ambulation did not appear to influence the significance of the above parameters.

Adolescent↗

Hypogonadism in Prader-Willi syndrome.

Sexual development was evaluated in 9 female and 2 male subjects with Prader-Willi syndrome. The process of sexual development and degree of genital development attained were found to be variable but abnormal in all subjects. Hypothalamic-pituitary-gonadal functions were evaluated by measurement of serum Luteinizing Hormone and plasma testosterone responses to stimulation by clomiphene citrate and plasma testosterone responses to stimulation by human chorionic gonadotrophin. The degree of vaginal estrogenization was variable. The testicular biopsies showed abnormalities mainly in the germinal epithelium. In agreement with previous studies, it was concluded that the abnormalities of sexual development in this syndrome are mainly due to a defect in the hypothalamic pituitary axis. Adrenal function was not found to be grossly abnormal. The 17 ketosteroid excretion values were low, probably explaining the rather sparse pubic and axillary hair observed in these patients. The urinary 17-hydroxycorticosteroid creatinine ratios were found to be elevated, probably due to decreased creatinine excretion, reflecting the muscular abnormalities of these subjects.

17-Hydroxycorticosteroids↗