High prevalence of primary ovarian insufficiency in girls and young women with Nijmegen breakage syndrome: evidence from a longitudinal study.

Context: Nijmegen breakage syndrome (NBS) is a severe chromosomal instability disorder characterized by microcephaly, growth retardation, immune deficiency, and predisposition for malignancy. It is caused by hypomorphic mutations in the NBN gene, which product belongs to the protein complex critical for processing DNA double-strand breaks during mitotic and meiotic recombination. Data on gonadal function in patients with NBS are limited.

Weight deficit at birth and Turner's syndrome.

Turner's syndrome (TS) is one of the most frequent diseases accompanied by growth deficiency. Though developmental disorders have been observed in the fetal period, there has been disagreement as to whether short stature is frequent in newborn girls with Turner's syndrome. Hence we attempted to determine the incidence of 'small for gestational age' in TS compared with healthy newborns girls delivered at term above -2 SD (body length and weight) for gestational age.

[Turner's syndrome: subjects with a normal body mass at birth grow taller than born small for gestational age].

Background: Body mass deficit at birth is one of the characteristic features observed in Turner's syndrome (TS). Body mass is lower than expected for gestational age in about 90% of TS-babies, and is below -2 SD (i.e.