Hypergonadotropic hypogonadism and chromosomal aberrations: clinical heterogeneity and implications on the health of elderly men, case series.

BACKGROUND: Hypogonadism in older men is often considered as late onset hypogonadism. However, this clinical condition results from primary testicular failure which could be of genetic origin with Klinefelter syndrome being the most common chromosomal abnormality associated with it. CASE PRESENTATION: We report a heterogeneous group of cases who were diagnosed with hypergonadotropic hypogonadism in their adulthood and were found to have rare chromosomal aberrations. All were elderly men (in their 70 s and 80 s) for whom the diagnosis was made during the evaluation of incidental symptoms suggestive of endocrinopathy. The first had hyponatremia; the other two had gynaecomastia and features of hypogonadism noted during admission for various acute medical problems. With respect to their genetic results; the first had a male karyotype with balanced reciprocal translocation between the long arm of chromosome 4 and the short arm of chromosome 7. The second case had a male karotype with one normal X chromosome and an isochrome for the short arm of the Y chromosome. The third case was an XX male with unbalanced translocation between the X & Y chromosomes with retention of the SRY locus. CONCLUSION: Hypergonadotrophic hypogonadism in the elderly, may be due to chromosomal aberrations, resulting in heterogeneous and diverse clinical phenotypes. Vigilance must be exercised when seeing cases with subtle clinical findings. This report suggests that in selected cases of adult hypergonadotropic hypogonadism, chromosomal analysis may be indicated.

The beneficial effects of breastfeeding on microvascular function in 11- to 14-year-old children.

Infant feeding practices have an impact on health in later life, although the evidence for its effects on cardiovascular health is not so clear. The aim of this study was to investigate the relationship between breastfeeding in infancy and vascular function in later childhood. Infant feeding data, together with demographic and clinical information, were obtained prospectively from a cohort of children from birth until 2 years of age. Vascular function was assessed in 159 children, now aged 11-14 years, by measuring their skin microvascular responses to iontophoretic administration of the endothelium-dependent vasodilator acetylcholine. Endothelial function was significantly better in children who had been breastfed than in those who had received infant milk formula (p = 0.001), after adjustment for potential confounding factors. Linear regression showed that acetylcholine responses were significantly related to the duration of breastfeeding (r = 0.30, p = 0.006). The risk of later cardiovascular disease may be reduced by exclusively breastfeeding during infancy. These findings have potential public health implications, and support policies aimed at promoting breastfeeding.

Impaired microvascular function in normal children: effects of adiposity and poor glucose handling.

Clustering of cardiovascular risk factors is thought to occur early in life. The endothelium is an important regulator of microvascular function. We investigated the relationship between microvascular function and cardiovascular risk factors in 145 normal, healthy children aged 11-14 years. Skin microvascular responses, measured using laser Doppler imaging, to iontophoresis of acetylcholine (ACh) and sodium nitroprusside (SNP), were negatively correlated with percentage body fat (r = -0.20, P < 0.05 and r = -0.18, P < 0.05, respectively). Subjects were stratified into quintiles based on 2-h, post-feeding glucose levels. Subjects in the upper glucose quintile (range 7.4-11.4 mmol l-1) showed significantly lower vasodilatation to both ACh (P < 0.005) and SNP (P < 0.02) than those in the lower quintile (range 3.9-4.9 mmol l-1). Waist-to-hip ratio and the fasting insulin resistance index were significantly greater in subjects in the upper quintile than those in the lower quintile (P < 0.001 and P < 0.05, respectively). Additionally, in subjects in the upper glucose quintile, fasting triglyceride correlated with fasting insulin (r = 0.59, P < 0.001) and with the fasting insulin resistance index (r = 0.49, P < 0.009), and plasma levels of cholesterol and 2-h glucose were also correlated (r = 0.40, P < 0.05). In a cross-section of normal children, microvascular function was negatively associated with adiposity. Additionally, in a subgroup of subjects, there was a clustering of high post-feeding glucose, impaired microvascular function, increased insulin resistance and higher central fat distribution. These findings suggest that risk factors for adult cardiovascular disease begin to cluster in normal children, which might have important consequences for development of atherosclerosis later in life.