Biomedical subjects
Publications and source records attributed to S Castells.
A diagnosis of androgen receptor deficiency was made in a male with ambiguous genitalia during the neonatal period. Since the neonate had a small hypospadiac phallus with laboratory evidence of a receptor deficiency and clinical unresponsiveness to high levels of androgen, it was decided to assign a female gender. Bilateral orchiectomy and phallic recession were performed.
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The relationships between growth retardation and metabolic and hormonal parameters were studied in 7 children with fetal alcohol syndrome (FAS). Fasting blood concentrations of TSH, T4, T3, FSH and LH were normal. Plasma prolactin concentrations after chlorpromazine stimulation were normal. 3 children had abnormal oral glucose tolerance tests with increased plasma insulin response. Peak plasma growth hormone responses to insulin-induced hypoglycemia were elevated in 5 patients. Fasting bioassayable serum somatomedin activity, determined in 6 patients, was elevated in 3 patients and normal in 3 patients. Administration of hGH to 3 patients with FAS had little effect upon nitrogen retention and did not increase plasma insulin concentrations, although serum somatomedin activity sharply increased in 1 patient evaluated for somatomedin response. The data indicate that the growth defect in FAS is not due to deficiency of growth-promoting hormones, but rather to peripheral unresponsiveness.
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A group of autistic children had the concentrations of spinal fluid 5-HIAA, HVA and cAMP studied before and twenty-four hours after afflux blockade with probenecid. Spinal fluid aminoacids were studied before probenecid administration and found to be normal. Three children lacked an increase in the concentration of 5-HIAA after probenecid administration, and two had only modest increases in the concentration of spinal fluid HVA. The concentration of spinal fluid cAMP was increased by probenecid administration in all eight children. These findings suggest an abnormality in monoamine metabolism in a small group of autistic children.
In a patient with the Lesch-Nyhan syndrome we found decreased spinal fluid 5-hydroxyindole acetic acid (5-HIAA), the major metabolite of serotonin, and decreased homovanillic acid (HVA), the major metabolite of dopamine, indicating a decrease in monoamine metabolism. Administration of 5-hydroxytryptophan and carbidopa produced an increase in spinal fluid 5-HIAA, indicating that it might be possible to correct the serotonin deficiency in this syndrome, but there were no changes in the marked mental retardation and neurological deficits. Self-mutilation appeared to be suppressed by therapy but the effectiveness of the drugs decreased with time. There were also changes in the spinal fluid concentration of amino acids that might affect brain protein synthesis. These changes were corrected during administration of 5-hydroxytryptophan and carbidopa.
We evaluated the long-term use of synthetic salmon calcitonin in the management of osteogenesis imperfecta tarda and congenita. Forty-eight children, ranging in age from 6 months to 15 years, and two young adults, received synthetic salmon calcitonin 2 MRC units/kg three days a week and a daily oral calcium supplement of 230 to 345 mg. The annual fracture rate was decreased during calcitonin therapy as compared to the period preceding therapy. There was an increase in the ability of the patient to stand and move and in the subjective feeling of strength in the lower extremities during calcitonin therapy. There was also a significant improvement in radiographic bone density, as determined by the method of photodensitometry, in patients under 5 years of age. Long-term administration of synthetic salmon calcitonin may be beneficial to young children with osteogenesis imperfecta.
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A 15-year-old boy with a history of maternal deprivation since age 2 years had severe growth retardation and panhypopituitarism. After one year in an appropriate foster home, there were no changes in his growth rate and pituitary function. This appears to be a case in which panhypopituitarism, probably secondary to maternal deprivation, was not corrected after placement in an appropriate environment. The normal increase in the concentration of serum thyroid stimulating hormone after the administration of protirelin (Thypinone) suggested that the primary abnormality was in the hypothalamic centers controlling the release of the pituitary hormones. Knowledge of the possibility of permanent panhypopituitarism secondary to maternal deprivation might encourage careful follow-up of these patients after placement.
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