RESUMO
Familial isolated growth hormone deficiency (GHD) type 1 is characterized by an autosomal recessive pattern of inheritance with varying degrees of phenotypic severity. We report a proband, with isolated GHD (IGHD) with very early growth arrest and undetectable levels of GH. Homozygous complete deletion of the GH1 gene was identified by real-time/quantitative polymerase chain reaction (RT/q-PCR) and confirmed by an independent molecular genetic method; the multiplex ligation-dependent probe amplification (MLPA) technique. Prenatal diagnosis was offered for the subsequent pregnancy in the mother of our proband. Identical heterozygous deletion of the GH1 gene was detected in both parents. The fetus had a similar homozygous deletion of the GH1 gene. We thus report a unique case with a confirmed mutation in GH1 gene in the proband followed by prenatal detection of the same mutation in the amniotic fluid which to our knowledge hitherto has not been documented from India.
RESUMO
BACKGROUND: Literature reports examining the association of bone mineral density (BMD) and socioeconomic status suggest of an inconclusive relation. METHODS: We studied 58 and 54 women (mean age 49.5 ± 7.2 years) from upper socioeconomic class (USC) and lower socioeconomic class (LSC), respectively, for their BMD at lumber spine and total femur by Lunar DPX-PRO dual-energy X-ray absorptiometry. Socioeconomic, lifestyle and biochemical data were collected. RESULTS: Percent prevalence of osteoporosis in USC women was 12% and 0% at lumber spine and total femur, respectively, while it was 33% and 11%, respectively, in LSC women. When the mean BMD values were adjusted for the effect of body mass index, protein and calcium intake, physical activity, and sunlight exposure, only the total femoral BMD of USC premenopausal women was significantly greater. CONCLUSION: Our data suggest that bone health of our LSC women was poor possibly due to the influence of socioeconomic and lifestyle factors.