Being born LGA represents a higher risk of severe obesity. At this age, the most frequent component of MS was an abnormal lipid profile with low high-density lipoprotein and high triglycerides. Finally, the most frequent finding associated with abnormalities of glucose tolerance was a family history of diabetes. Thus, BW, lipid profile, and family history are mandatory when these patients are evaluated.

Growth hormone release was assessed utilizing insulin-induced hypoglycemia and arginine infusion in 13 children with primary hypothyroidism and in 10 patients with thyrotoxicosis. In the hypothyroid group there were 6 blunted and 7 normal responses, with a mean peak concentration of serum growth hormone (SGH) of 7.9 ng/ml which differed significantly from the controls (p<.02). The hypothyroid patients also exhibited a delayed peak in SGH compared to normal subjects. There was no correlation between the severity or duration of the hypothyroidism and growth hormone response. It was shown that thyroid deficiency is inconstantly associated with an abnormal growth hormone response to insulin-induced hypoglycemia and arginine infusion which was reversible after treatment with thyroid hormone. The impaired growth hormone release found in some patients with primary hypothyroidism may be indistinguishable from that observed in hypo pituitary subjects. The growth hormone response in the group of children with thyrotoxicosis did not differ significantly from that of the normal controls. (J Clin Endocr 29: 346, 1969)

Background: Novel molecular insights have suggested that ghrelin may be involved in the pathogenesis of some forms of short stature. Recently, growth hormone secretagogue receptor (GHSR) mutations that segregate with short stature have been reported. Aim: To study plasma ghrelin levels in prepubertal patients with idiopathic short stature (ISS). Methods: Fasting total plasma ghrelin levels (radioimmunoassay) in 41 prepubertal patients with ISS (18 females, age 7.9 ± 0.5 years) compared with 42 age- and sex-matched controls (27 females, age 8.0 ± 0.3 years) with normal height. In a subset of 28 patients, the ghrelin receptor was sequenced. Results: ISS patients exhibited a higher level of ghrelin (1,458 ± 137 vs. 935 ± 55 pg/ml, p < 0.01) and similar IGF-I levels (–0.66 ± 1.29 vs. –0.32 ± 0.78 SDS) compared to controls. Ten patients with ISS had ghrelin levels greater than +2 SDS compared to controls. These patients did not differ in height, BMI or IGF-I SDS compared to ISS patients with ghrelin levels within the normal range. Molecular analysis of GHSR did not show any mutations, but showed some polymorphisms. Conclusion: These results suggest that in ISS patients, short stature does not appear to be frequently caused by abnormalities in ghrelin signaling.

The pentasomy 49,XXXXY is one of the rarest sex chromosome defects, occurring with an estimated incidence of 1 in 85000 male births. This condition is associated with pre‐ and postnatal growth deficiency, severe mental retardation, hypogenitalism, and other skeletal, facial and cardio‐vascular anomalies. In this report we present such a case diagnosed prenatally by chorionic villus sampling after the ultrasound detection of cystic hygroma at 16 weeks' gestation. Although the prenatal diagnosis of cystic hygroma and its association with aneuploidy has been documented in numerous reports, sex chromosome aneuploidy, other than the 45,X karyotype, accounts for only 0·3 per cent of cases. Copyright © 1999 John Wiley & Sons, Ltd.

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