In 1990, the Italian Study Group for Turner's Syndrome (ISGTS) undertook a nationwide survey, involving the retrospective collection of cross-sectional data and longitudinal growth profiles of 772 girls with Turner's syndrome born between 1950 and 1990. The study was carried out in 29 pediatric endocrinological centers. In this first report, the familial characteristics and neonatal data of Turner girls are described, compared to those of the general population, and related to postnatal somatic development. Furthermore, charts for birth weight and growth standards for height and weight from infancy to adulthood are presented (these are the first charts based on a large sample from the Mediterranean area). The main findings were: (1) incidence of Turner births increases with parental age or parity; (2) most of the neonates are small for dates; (3) girls with normal birth weight tend to be both taller and heavier than girls with low birth weight during the whole growth period; and (4) a 10-cm difference in midparental height leads to a 6.5-cm difference in adult stature.

Increased cholinergic tone induced by pyridostigmine (PD) increases basal plasma GH levels and potentiates the GH response to GHRH in normal adults. In this study the effects of PD (60 mg, orally) on both basal and GHRH (1 microgram/kg)-induced GH secretion in seven children with familial short stature (FSS), six with GH deficiency (GHD) and 10 with constitutional growth delay (CGD) were studied and compared with results obtained by stimulation with insulin-induced hypoglycemia (IH) and GHRH alone. The mean peak plasma GH levels were variable, but individual values were frequently low in all groups after both IH [FSS, 9.7 +/- 1.3 (+/- SEM) ng/mL; GHD, 1.6 +/- 0.4 ng/mL; CGD, 7.0 +/- 0.8 ng/mL] and GHRH (FSS, 23.8 +/- 6.6 ng/mL; GHD, 11.1 +/- 5.8 ng/mL; CGD, 15.1 +/- 4.5 ng/mL) administration. PD induced GH responses (FSS, 14.5 +/- 1.6 ng/mL; GHD, 3.8 +/- 0.8 ng/mL; CGD, 18.3 +/- 3.2 ng/mL) that in many children in the FSS and CGD groups were higher than those after IH and GHRH treatment. PD clearly increased the GH response to GHRH in all children [FSS, 69.5 +/- 9.4 ng/mL (P less than 0.01 vs. other stimuli); GHD, 18.0 +/- 7.5 ng/mL; CGD, 50.0 +/- 8.5 ng/mL (P less than 0.01 vs. other stimuli)]. We conclude that in children with short stature, as in adults, enhancement of cholinergic tone increases both basal and GHRH-induced GH secretion, and that PD plus GHRH is the best provocative stimulus for evaluating the somatotroph response.

Physiologic interindividual differences in neonatal size are traditionally thought of as determined by differences in fetal growth occurring only in the second half of pregnancy. Whether possible differences in early intrauterine growth velocity are the effect of random growth fluctuations or may affect size at birth is still debated. This article aims at evaluating to what extent differences in neonatal size are accounted for by differences in fetal growth velocity. We analyzed the fetal growth of 130 healthy singletons for whom head (HC) and abdomen (AC) circumferences and femur diaphysis length (FDL) longitudinal profiles were available, together with the measures of weight (BW), length (BL), and head circumference (BHC) at birth. Individual profiles were fitted with ad-hoc models. Neonatal traits were transformed into standard deviation scores (SDS). Neonates in the upper third of BW-SDS distribution (3618 Ϯ 43 g, mean Ϯ SEM) had, at 22 wk of gestational age, AC growth velocity higher by 0.55 Ϯ 0.10 mm/wk than those in the lower third (2902 Ϯ 36 g). Neonates in the upper third of BL-SDS distribution (51.7 Ϯ 0.21 cm) had, at 20 wk, FDL growth velocity higher by 0.11 Ϯ 0.05 mm/wk than those in the lower third (48.2 Ϯ 0.18 cm). Neonates in the upper third of BHC-SDS distribution (35.7 Ϯ 0.13 cm) had, at 18 wk, HC growth velocity higher by 0.57 Ϯ 0.20 mm/wk than those in the lower third (33.3 Ϯ 0.11 cm). The differences in growth velocity remain constant throughout the second and third trimester for AC, and tend to vanish in the third trimester for HC and FDL. The differences in fetal growth velocity, which in our study were observed as early as mo 4, suggest that the genetic component plays an important role in fetal growth and is precociously expressed. Abbreviations AC, abdomen circumference BHC, head circumference at birth BL, birth length BPD, biparietal diameter BW, birth weight CRL, crown-rump length FDL, femur diaphysis length GA, gestational age HC, head circumference SDS, standard deviation score Physiologic interindividual differences in neonatal size are traditionally thought of as determined by differences in fetal growth occurring only in the second half of pregnancy (1,2). Actually, the assessment of GA derived from the measurement of CRL during the late first trimester (3), as well as of BPD, HC, and FDL during the second trimester (4), rests on the assumption that in this period fetuses of the same size have nearly the same GA. Empirical evidence against the above assumption is unlikely to be provided, inasmuch as differences in size in the first half of pregnancy are expected to be small, growth being a cumulative process, and measurement error being relatively large with respect to size. On the other hand, negligible interindividual differences in size at a given gestational age do not necessarily imply negligible differences in growth velocity, which may be estimated only by means of longitudinal studies.Longitudinal studies presently available, although based on few subjects and limited to t...

(Fig. 1), abundant, very thick, reddish, curly hair which was not easily combed. The hair appeared structurally normal when observed through a scanning microscope; its stress-strain features were not tested. The girl had a small face with maxillary hypoplasia and a small triangular mouth, lateral hypoplasia of the eyebrows; she had lost her eyelashes and suffered from epiphora caused by aplasia of the lacrimal canaliculi. Teeth were normal as far as number and age of eruption were concerned, but appeared small and grey (enamel hypoplasia). The nose was narrow with hypoplastic alae nasi and a bulbous tip. Finger and toenails were small, narrow, and dysplastic. Both feet had partial cutaneous syndactyly between second and third toes and clinodactyly of the third toes. No finger-tip ridges were visible; the dermatoglyphic examination showed generalised flattening of the crests which were also partially dissociated. Ac hypothenar patterns in both hands and a high axial triradius (t' left, t" right) were also present. According to our evaluation the number of sweat pores on the surface of epidermal ridges was normal (c. 20/cm) although the features described made it difficult to perform an accurate count with a stereomicroscope.3 (According on 11 April 2019 by guest. Protected by copyright.