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testicular androgen production/action from the second trimester onwards result in disorders of sex development for boys. A similar phenomenon akin to that seen in 46,XX individuals with STAR variants may occur, where enzyme deficiency is either compensated
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taking the dose on waking in the morning. MRHC has delayed release and sustained absorption was called Chronocort during development and has been shown to mimic the normal circadian rhythm of cortisol ( 13 , 14 ). MRHC is taken twice daily, at bedtime
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NIHR Health Protection Research Unit on Chemical Radiation Threats and Hazards, Imperial College London, London, UK
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NIHR Health Protection Research Unit on Chemical Radiation Threats and Hazards, Imperial College London, London, UK
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NIHR Health Protection Research Unit on Chemical Radiation Threats and Hazards, Imperial College London, London, UK
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explore their relationship to pubertal development, with secondary objectives of investigating the effect of sample collection time and the stability of the long-term storage of the samples for measuring the sex steroids in saliva. Methods Study
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= −3.74, P < 0.0002). (B) GO analysis showed that all upregulated genes in the in vivo 1-h Dex treatment group were highly associated with neural cell development and function. The fold change used for heatmaps was calculated based on FPKM +0.001. S
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Servicio de Endocrinología y Nutrición. Instituto de Investigación Sanitaria del Hospital Clínico San Carlos (IdISSC), Hospital Clínico San Carlos, Madrid, España
Centro de Investigación Biomédica en Red de Diabetes y Enfermedades Metabólicas Asociadas (CIBERDEM), Madrid, España
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hypoaldosteronism was absent in the case of EH. Thus, we can extrapolate that, whereas HH can be a direct consequence of hypoaldosteronism, the development of EH in this disease would respond to another physiopathological mechanism altogether. Hypoaldosteronism
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Department of Endocrine and Metabolic Diseases, Istituto Auxologico Italiano IRCCS, Milan, Italy
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female sex development and prevent genital virilisation. In other words, excessively high androgen levels will cause the female genitalia to develop towards the male phenotype. The lack of HPA axis inhibition can, therefore, result in severe virilisation
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provides an ideal target for a selective antagonist as its biological effect should be highly specific. Elucidating the molecular basis of MCR ligand binding and signalling is therefore a prerequisite to the development of selective MC2R agonists and
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Department of Clinical Medicine, University of Copenhagen, Denmark
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; however, adult patients with CAH often experience inadequate treatment with health sequelae including an impaired gonadal function ( 3 ). One of the most important testicular complications in male patients with CAH is the development of testicular
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nucleus, where it regulates the expression of WNT target genes ( 1 ). One aspect that is currently the focus of attention is the involvement of the Wnt/β-catenin pathway in the regulation of adrenal development, physiology, and carcinogenesis ( 2 , 3
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immunohistochemical testing demonstrates loss of SDH staining ( 11 ). If a germline pathogenic variant in a PPGL-susceptibility gene is identified, cascade genetic testing of relatives is recommended to identify family members at risk of tumour development and thus