Dietary survey during pregnancy in a low socio-economic group.

Maternal food intakes were assessed by 7-d weighed diet records during the three trimesters of pregnancy in 75 mothers in a low socio-economic groups. Mean (+/- s.e.) energy intakes in the first, second and third trimesters were 1613 +/- 45.7, 1723 +/- 45.4, 1772 +/- 50.2 kcal respectively. Mean (+/- s.e.) energy intakes of nine mothers with babies less than 2500 g at birth were 1446 +/- 95.1 kcal, compared with 1723 +/- 39.9, P less than 0.001. Intake of almost all nutrients was lower in mothers of babies less than 2500 g, but only the difference in fat (62.1 +/- 5.0 vs 72.6 +/- 1.75, P less than 0.025) and pyridoxine (0.92 +/- 0.06 vs 1.47 +/- 0.14, P less than 0.005) intakes reached statistical significance.

Prader-Willi Syndrome after age 15 years.

Twenty-four patients, all of them over 15 years, with the Prader-Willi syndrome are described. Obesity, often extreme, associated with an insatiable appetite, was their principal handicap and this was made worse by educational subnormality and hypogonadism. Three of the them developed diabetes. Each attended a special school or an adult training centre. Although most of them were of short stature and had scoliosis, 2 were tall but they even more severely mentally retarded than is usually the case. Nine other patients died aged between 3 and 23 years. The most common cause of death was cor pulmonale.

Endocrine function in the Prader-Willi syndrome.

Hypothalamic, pituitary and gonadal function was studied in five male and three female patients with the Prader-Willi syndrome. All were clinically hypogonadal: all males had low circulating testosterone levels, although in two females basal plasma oestradiol was within the normal range for the early follicular phase of the menstrual cycle. Basal gonadotrophin levels were low and the response to the intravenous ater 10 days and 6 weeks treatment with oral clomiphene (200 mg daily) was followed by a normal rise in luteinizing hormone (LH) and follicle stimulating hormone (FSH) in four out of five patients tested. All five males were tested with human chorionic gonadotrophin (hCG) and the rise in plasma testosterone was subnormonal in four. Treatment with hCG was continued for 6 weeks in these four patients, but in only one did testosterone levels rise (transiently) to the normal adult male range. In one female patient studied no rise in plasma oestradiol was detected in response to human menopausal gonadotrophin (hMG). These results suggest that the hypogonadism in the Prader-Willi syndrome is due to combined hypothalamic and primary gonadal abnormalities.

HCG stimulation test in children with abnormal sexual development.

Plasma testosterone was estimated by radioimmunoassay in 60 children with disorders of sexual development before and after stimulation with human chorionic gonadotrophin (HCG). In 21 children the testosterone levels after 3 and 5 daily injections of 1000 units HCG were compared and good correlation was found between the paired results (r =0-93), suggesting that the 5-day HCG test has no advantage over the 3-day test. In 7 boys with apparently normal genital development the increments in plasma testosterone ranged from 2-0 to 8-5 nmol/1 after 3 injections of HCG. 10 boys with anorchia showed little response to HCG stimulation, but in patients with other disorders, such as micropenis (10), cryptorchidism (8), hermaphroditism (3), male pseudohermaphroditism (13), hypospadias (3), and sex chromosome anomalies (6), there was considerable variation in the plasma testosterone level after HCG. In 2 boys with suspected anorchia the results suggested that testes were present and this was confirmed at operation.

Two XX males diagnosed in childhood. Endocrine, renal, and laboratory findings.

Two prepubertal boys with bilateral cryptorchidism were identified as 46,XX after nuclear sexing studies in several tissues. Gonadal histology and chromosome studies suggested that true hermaphroditism or mosaicism were unlikely. Xg blood grouping was informative in one patient. Accepting paternity, this suggested either that both Xs were maternal, with loss, for example, of the male determining Y chromosome, or that the paternal X chromosome did not express, probably because of a deletion, the allele for the positive Xg blood group. The patients had normal thyroid stimulating hormone reserves but subnormal responses to human chorionic gonadotrophin stimulation, and may need hormonal replacement at puberty. Both had renal anomalies. We suggest that chromosome analysis is essential when cryptorchidism, hypospadias, or microgenitalia are found and that an intravenous pyelogram is desirable.

The justification for early radiological investigations of urinary-tract infection in children.

97 children, 67 girls aged 0-13 years and 30 boys aged 0-11 years, with apparent first urinary-tract infections were investigated radiologically. The intravenous pyelogram was abnormal in 15.5% of the girls and 33% of the boys and the micturating cystourethrogram was abnormal in 34% of the girls and 39% of the boys. When both examinations were combined the abnormality-rate rose to 41% in the two sexes. Accordingly, radiological investigation of the renal tract is recommended after the first proven urinary tract infection.

The prevalence of asymptomatic urinary-tract infection in pre-school children.

Urine samples from 1000 pre-school children aged 4 weeks to 5 years, attending welfare centres, nursery schools or day nurseries in one London borough, were cultured by the dip-slide method. Five children had asymptomatic bacteriuria, a prevalence of 0-5 per cent. The need for screening the urine of pre-school children is discussed.