Adrenarche, pubertal development, age at menarche and final height of full-term, born small for gestational age (SGA) girls.

Children born small for gestational age (SGA) may present advanced bone maturation in childhood and reduced final height. The objectives of the study were to evaluate adrenarche, pubertal development, age at menarche and final height in full-term born-SGA girls. Twenty-four girls (12 born-SGA and 12 matched controls) were evaluated at 6-7.5 years of age for clinical signs of puberty and dehydroepiandrosterone sulfate (DHEAS) levels, as a marker of adrenarche. Thirty-eight girls (19 born-SGA and 19 matched controls) were evaluated at 17.5-18.5 years of age to assess final height, sexual maturation and age at menarche. SGA girls had a mean final height (160.1 cm vs 165.8 cm, p < 0.01) and mean weight (52.1 kg vs 56.5 kg, p < 0.05) significantly lower than controls. Controls had a mean final height significantly higher than their mean target height. Sexual maturation was at stage 5 of Tanner's staging in SGA girls and control subjects. SGA girls had a slightly anticipated puberty (9.9 vs 10.4 years for initial breast development) and a lower age at menarche (11.9 vs 12.3 years). At 6-7.5 years of age, SGA females and controls did not show any difference for clinical signs of puberty; however, DHEAS levels (0.75 + 0.18 microgram/ml vs 0.57 + 0.22 microgram/ml, p < 0.05) were significantly higher in SGA girls than in control subjects. We concluded that full-term born-SGA females have impaired final height and weight in adolescence but substantially normal sexual maturation and age at menarche. Increased DHEAS levels before puberty in born-SGA girls may predispose to increased bone maturation in childhood with a reduced final height. In our population a progressive increment in final stature is evident.

[A case of partial 6q trisomy diagnosed at birth]. / Un caso di trisomia 6q parziale diagnosticato alla nascita.

This report concerns a male newborn investigated with chromosomal analysis due to dysmorphic and malformative signs. His caryotype was 46,XY but the short arm of one 3 was not normal: parental chromosomes showed a maternal balanced translocation (3;6)(p25;q23) which had led to 6q23----6qter duplication in the patient. The phenotype was like the twenty-one cases found in the literature: it is characterized by facial dysmorphism (bow shaped mouth, high prominent forehead, protruding ocular bulbs, anteverted nostrils), short neck with pterigium, flexion contractures especially at extremities and neurological problems as well as internal malformations. Moreover, it seems not affected, or very little, by monosomies accompanying unbalanced translocations.