Endocrine Abstracts

The nuclear receptor SF1/NR5A1 regulates transcription of genes involved in reproduction, steroidogenesis and male sexual differentiation. Mutations in humans cause gonadal dysgenesis with or without adrenal failure in both 46,XY and 46,XX individuals. In a cohort of patients with familial 46,XY DSD, we identified 6 heterozygous NR5A1 mutations in 19 subjects from 5 unrelated families (F1-F5). Moreover, a de novo heterozygous mutation in one patient with 46,XY DSD and no affec...

Introduction: 5 alpha-steroid reductase deficiency (5α SRD) is a rare autosomal recessive disorder. Presented here is the clinical profile and long term outcomes of subjects with 5α SRD examined in our hospital during the last 30 yrs.Methods: Records of patients registered in the endocrine clinic of our hospital and new patients with diagnosis of 5α SRD were compiled. Details of history,physical examination,chromosomal analysis, hormonal s...

Background: Vitamin D insufficiency (VDI) was reported to be associated with decreased insulin sensitivity (IS). Individuals with higher osteocalcin (OC) were shown to have better IS. Vitamin D regulates OC synthesis. Obese children carry an abnormal glucose homeostasis risk. Whether correction of VDI improves IS in obese children and mediates such effect via OC are unclear. We, therefore, studied glucose homeostasis, IS, vitamin D status and serum OC concentration in 230 obes...

Preliminary data from the French SAGhE study of 6928 pts with isolated idiopathic GH deficiency (IsIGHD), idiopathic short stature (ISS) or born small for gestational age (SGA) who started GH treatment during childhood (1985–1996) & were followed up in 2009, suggested increased mortality vs the French general population (pop; standardized mortality ratio (SMR): 1.3, 95% confidence interval (CI): 1.1–1.6; 116 403 person-years (PY))1.<p class="abstex...

The reawakening of the hypothalamo-pituitary-gonadal (HPG) leading to attainment of sexual maturation and reproductive capacity is influenced by several internal and external factors. Amongst external factors, adverse physical or psychological conditions may alter the timing of onset of puberty. The present study examined the effect of persistent and severe physical stress on timing of onset of puberty. The study included non-working school/college going and working boys of 10...

TTF1/NKX2.1 is a transcription factor expressed in thyroid, lung and brain. Several heterozygous mutations have been described in patients with primary congenital hypothyroidism, respiratory distress and benign hereditary chorea, typical aspects of the ‘thyroid–lung–brain syndrome’.We recently studied a family affected by some of these features, and the direct sequencing of the NKX2.1 gene demonstrated an heterozygous deletion of a cy...