Adrenocorticotropic hormone (ACTH) insensitivity syndrome is one of the rare causes of adrenal insufficiency in children. All described inherited ACTH insensitivity forms are of autosomal recessive origin. In our resource-poor Countries, many of these rare diseases are ignored or not diagnosed due to inadequate technical equipments. We report the case of a 4-month old infant hospitalized for refractory hypoglycaemias. Despite the patient had generalized and severe melanodermia, digestive disorders and ion channel disorders the diagnosis of cortisol deficiency was only diagnosed retrospectively during respiratory arrest with favorable outcome under hydrocortisone therapy. This study aims to highlight the clinical, laboratory and therapeutic features of peripheral cortisol deficiency, without enzymatic blocks, including this adrenocorticotropic hormone (ACTH) insensitivity syndrome.
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http://dx.doi.org/10.11604/pamj.2018.30.244.15541 | DOI Listing |
Psychoneuroendocrinology
December 2020
Laboratory for Molecular Psychosomatics, Department of Psychosomatic Medicine and Psychotherapy, University of Ulm, 89081 Ulm, Germany. Electronic address:
Background And Aim: Chronic subordinate colony housing (CSC, 19 days), an established and preclinically-validated mouse model for posttraumatic stress disorder (PTSD), causes evening hypocorticism and a reduced adrenal in vitro ACTH (adrenocorticotropic hormone) sensitivity despite pronounced adrenal hyperplasia. However, until now it remains unclear at what time point during CSC exposure evening hypocorticism and adrenal in vitro ACTH insensitivity develop and whether the repeated change of dominant aggressor mice plays an important role in this context. It is, therefore, the aim of the current study, to explore the detailed time course of these stress-induced adrenal changes.
View Article and Find Full Text PDFProtein Pept Lett
February 2021
Lab of Endocrine and Metabolic Research, IRCCS Istituto Auxologico Italiano, Cusano Milanino, Milan, Italy
Triple-A Syndrome (TAS) is a rare autosomal recessive disorder characterized by three cardinal symptoms: alacrimia, achalasia and adrenal insufficiency due to ACTH insensitivity. Various progressive neurological abnormalities and skin changes have been described in association with the syndrome. The disease is caused by mutation in the AAAS gene on chromosome 12q13.
View Article and Find Full Text PDFPrimary generalized glucocorticoid resistance (PGGR) is a rare hereditary disease characterized by generalized partial target-tissue insensitivity to glucocorticoids. To date, few cases have been reported, and more cases, especially involving other races, are needed to fully understand this disease. This study presented a novel glucocorticoid receptor mutation in a PGGR pedigree.
View Article and Find Full Text PDFBiol Rev Camb Philos Soc
June 2020
Centre for Dermatology, School of Biological Sciences, University of Manchester, and NIHR Manchester Biomedical Research Centre, Stopford Building, Oxford Road, Manchester, M13 9PT, U.K.
The nervous system communicates with peripheral tissues through nerve fibres and the systemic release of hypothalamic and pituitary neurohormones. Communication between the nervous system and the largest human organ, skin, has traditionally received little attention. In particular, the neuro-regulation of sebaceous glands (SGs), a major skin appendage, is rarely considered.
View Article and Find Full Text PDFEndokrynol Pol
November 2020
Department of Endocrinology, Metabolism, and Internal Medicine, Poznan University of Medical Sciences, Poznan, Poland.
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