Endocrine Abstracts

Antiproliferative actions of 1,25(OH)2D3 (1,25D), the active form of Vitamin D, are reported in various types of cancer, whereas little is known about the underlying molecular mechanism. Interestingly, in non thyroid-cancer cells, stimulation with 1,25D has been shown to affect cell proliferation in a Sirtuin 1 (Sirt1) dependent manner. Sirtuin histon deacetylases are key factors in cell metabolism recently found to be overexpressed in different carcinoma...

Cushing’s syndrome (CS) during pregnancy is a rare metabolic condition with only a few cases reported in the literature. Misdiagnosis of CS is common because of the overlapping features of fatigue, weight gain, striae, and emotional changes that occur during normal pregnancy. The clinical presentation together with laboratory and imaging findings help to make a diagnosis. However, changes in maternal hormones and their binding proteins complicate assessment of the normal ...

Kisspeptin is a neuropeptide secreted in anteroventral-periventricular and arcuate hypothalamic nuclei involved pubertal onset and in other functions of adult life. Kisspeptin levels are sex dependent, so they are higher in prepubertal girls and in adult women compared to age-matched male. This sex-related pattern has been reported in adult obesity, but few data are reported in childhood obesity. In order to evaluate correlations between metabolic status and kisspeptin, we stu...

Background: Delta-like homologue 1 (DLK1) encodes a transmembrane protein, which may also be secreted into the circulation. Levels are known to rise in maternal serum during late gestation and our genetic studies in the mouse have shown that this DLK1 arises from the conceptus. The cell population that secretes DLK1 into the maternal circulation has not been identified. In humans DLK1 has been shown to be differentially expressed in intrauterine growth restricted (IUGR) when c...

Introduction: The Sonic hedgehog (Shh) pathway is an evolutionarily conserved signalling pathway, playing an essential role during embryonic development. Murine studies have shown the importance of Shh in the growth of the adrenocortical primordium. Shh expression has previously been described in relatively undifferentiated sub-capsular cells in the developing rodent adrenal, however the organisation of the human foetal adrenal (HFA) is unique. This novel study aimed to descri...

Background: Multiple diagnostic modalities may be needed to establish the source of excessive androgen production in women. The detection of testosterone-producing ovarian tumors by imaging techniques can be difficult because of their in same cases small size and radiological structure.Case report: We describe a 55-year-old postmenopausal woman presenting with progressive severe virilization (Ferriman Gallwey-Score: 23–26), increased hair growth, ma...

Objectives: Several different pathogenic mechanisms may converge on a final common pathway to produce the phenotype of delayed pubertal timing. Abnormal pubertal timing affects >4% of adolescents and is associated with adverse health outcomes. Up to 80% of variation in the timing of pubertal onset is genetically determined. Self-limited delayed puberty (DP) segregates in an autosomal dominant pattern, but in the majority the neuroendocrine pathophysiology and genetic regul...

Background: Physical activity is the first-line treatment in type 2 diabetes. Interval walking training has demonstrated good tolerability and more pronounced positive effects on physical fitness and metabolism in type 2 diabetes, compared to continuous walking. However, the effects of interval walking on vascular health markers, such as albuminuria, has not been extensively studied. Type 2 diabetes is associated with derangements in leptin/adiponectin axis, which might predis...

Background: Disturbances of pubertal timing affect >4% of the population and are associated with adverse health outcomes. Studies estimate 60–80% of variation in pubertal onset is genetically determined, but few genetic factors are known. We hypothesise that causal variants will be low-frequency, intermediate-impact variants and will be enriched in populations at the extremes of normal pubertal timing. Families with constitutional delay in growth and puberty (CDGP) ha...

Background: GH resistance or primary IGF1 deficiency (PIGFD) presents with growth failure, low serum IGF1 and normal/elevated serum GH. PIGFD comprises a spectrum of phenotypic and biochemical abnormalities for which genetic GH–IGF1 axis defects may be causative.Objective: Genotyping of PIGFD patients referred for sequencing of candidate genes.Methods: From 2008 to 2013, 62 patients (42 males and 20 females), median age 6.9 ye...