A roughly circular hypoplastic defect restricted to the labial enamel surface of the deciduous canine is described. This pathology is quite common in available samples of Upper Paleolithic and Neolithic children and a cadaver sample of recent Calcuttans, affecting 44% to 70% of individuals. It is rare in a Neanderthal sample and in children from a clinical practice in Vancouver. The lesion occurs twice as commonly in the lower jaw. The defect appears to commence at or after birth owing to localized pressure on thin or nonexistent alveolar bone overlying the bulging crypt of the deciduous canine. Population differences in the incidence of the pathology probably reflect innate and acquired variation in hard and soft tissue thicknesses in this region. 相似文献
Congenital lipoid adrenal hyperplasia (lipoid CAH) is the most severe form of CAH in which the synthesis of all gonadal and adrenal cortical steroids is markedly impaired. Lipoid CAH may be caused by the defect in either the steroidogenic acute regulatory (StAR) protein or the P450scc. More than 34 different mutations in StAR gene have been identified. Clinically, most of the patients manifest adrenal insufficiency from 1 day to 2 months of age, but some patient show delayed onset of adrenal insufficiency. Affected 46, XY subjects do not show pubertal development, whereas affected 46, XX subjects undergo spontaneous feminization, breast development and cyclical vaginal bleeding at the usual age of puberty.
X-linked adrenal hypoplasia congenital (AHC) is a rare congenital adrenal disorder characterized by severe adrenal insufficiency and hypogonadotropic hypogonadism. More than 80 different several intragenic mutations of DAX-1 have been identified. The failure of pubertal development may be caused by either abnormal hypothalamic or pituitary regulation of gonadotropin secretion. In addition, although the testicular steroidogenesis is largely intact, the functional maturity of Sertoli cells and also spermatogenesis are impaired. The type of mutation does not predict clinical phenotype. Thus, unified mechanism how DAX-1 gene defect gives rise to adrenal insufficiency, hypothalamic/pituitary hypogonadism and impaired spermatogenesis remains established. 相似文献
Hypoplastic defects of tooth enamel and Harris lines in the long bones have been heralded as potentially useful indicators of health conditions in prehistoric populations. Both result from temporary cessation of growth processes due to similar types of disease, malnutrition, or other metabolic insult. An association test for the first six years of life was conducted on a large series of prehistoric California Indians, using femora and canines from young adults. No significant association was found. This is ascribable to differences in etiology and stability. 相似文献
A pathognomonic macular ripple sign has been reported with scanning laser ophthalmoscopy images in patients with foveal hypoplasia, though the optical basis of this sign is presently unknown. Here we present a case series of seven individuals with foveal hypoplasia (based on spectral domain optical coherence tomography). Each patient underwent infrared scanning laser ophthalmoscopy retinal imaging in both eyes, acquired with and without a polarization filter and assessment for a ripple-like effect in the fovea. On imaging, macular ripples were present in all eyes with foveal hypoplasia when using a polarization filter, but not when imaged without the filter. We conclude that the macular ripple sign is an imaging artifact attributable to the unique pattern of phase retardation of the Henle fiber layer in the setting of foveal hypoplasia. By utilizing a polarization filter with retinal photography, this feature can be exploited to promptly identify foveal hypoplasia in settings where OCT is not possible due to nystagmus. 相似文献