Folic acid replacement in folate-deficient children on anticonvulsants.

309 infection. Since Case 18 failed to respond adequately to either arginine alone or arginine with oestrogen priming, an insulin response test was performed, and she also failed to respond to this. Discussion The majority of subjects with chromosomal anomalies also have a disorder of growth. Tall stature in males with multiple X chromosome disorders, and short stature in subjects with the XO syndrome or autosomal aneuploidies are characteristic. No adequate explanation for these disorders of growth in subjects with chromosomal anomalies has been advanced. Plasma growth hormone has not been studied in these subjects except in a few patients with the XO and XXY syndromes (Frasier, 1967; Hillman and Colle, 1969; Lundberg andWahl-strom, 1970) in whom the PGH responses were not different from those in normal control subjects. In the present study all subjects with anomalies of the sex chromosomes had positive PGH responses (Table). It is of interest that among this group the 2 subjects who required more than one test for demonstration of a positive PGH response also had marked growth retardation (more than 2 SD below the mean). Among the subjects with autosomal aneuploidy, 3 failed to respond adequately to the initial arginine stimulation test. Two of these (Cases 16 and 24) did exhibit adequate PGH responses when the test was repeated with oestrogen priming. In one case (Case 18), a 1696-year-old female who had a height age of 3-4 years and mosaicism for a cell line with possible trisomy D, none of the 3 stimulation tests (arginine, arginine with oestrogen priming, insulin) resulted in an adequate response of 5 ng/ml above baseline. These results suggest an anomaly of growth hormone production in this patient which probably contributed to her dwarfism. The average height of adult patients with Down's syndrome is approximately 151 cm for males and 141 cm for females (Penrose and Smith, 1966), both values being 3 SD below the mean height for normal subjects. The mean height of 50 adult male subjects with X chromosome anomalies (Klinefelter's syndrome) reported by Hambert (1966) was 180-3 cm ± 6 8 cm, which is nearly 1 SD above the mean height for normal adult males. Since the groups of subjects with Klinefelter's and Down's syndromes in our study had normal PGH responses, the characteristic short stature in subjects with Down's syndrome and the tall stature in males with multiple X chromosome anomalies are probably not related …