A Rare Etiology of 46, XY Disorder of Sex Development and Adrenal Insufficiency: A case of MIRAGE syndrome caused by mutations in SAMD9 gene

This report describes the first MIRAGE syndrome patient in Turkey. PMID: 31208161 [PubMed - as supplied by publisher]
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

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ConclusionsAVS may contribute to appropriate treatment in patients with ACTH-independent hypercortisolism and bilateral adrenal lesions. In our series, AVS was helpful in the decision-making of two out of ten patients, avoiding chronic treatment with steroidogenesis inhibitors, or inappropriate bilateral adrenalectomy.
Source: Endocrine - Category: Endocrinology Source Type: research
ConclusionsClinical symptoms vary even among patients carrying the same mutation. Triple A syndrome should be considered in the etiology of non-CAH PAI in Arab populations and in Southeast Turkey. Any child with non-CAH PAI should be evaluated for the presence of alacrima and/or achalasia or family history of alacrima and/or achalasia. Children with alacrima and/or achalasia should also be investigated for adrenal insufficiency. Definitive molecular diagnosis is essential for early diagnosis and management of adrenal insufficiency, neurological symptoms, and growth retardation in patients and early diagnosis of as yet asym...
Source: Journal of Endocrinological Investigation - Category: Endocrinology Source Type: research
Shankar Vithalrao Kadam, Kamlesh B Tailor, Vinay H K Joshi, Suresh G RaoAnnals of Pediatric Cardiology 2019 12(3):351-353
Source: Annals of Pediatric Cardiology - Category: Cardiology Authors: Source Type: research
Under what circumstances should daily dose adjustments be initiated in patients with adrenal insufficiency?Clinical Endocrinology
Source: Medscape Today Headlines - Category: Consumer Health News Tags: Diabetes & Endocrinology Journal Article Source Type: news
Publication date: Available online 8 August 2019Source: Autoimmunity ReviewsAuthor(s): Alberto Romano, Donato Rigante, Clelia CipollaAbstractThe contribution of autoimmune phenomena to dysfunction of hypophysis or hypothalamus is far to be unraveled and also the specific pathways of hypophysitis are poorly understood until now, mostly for the pediatric population. Primary hypophysitis is rare in children and often regarded as an autoimmune disorder, following the evidence of lymphoplasmacytic infiltration in the pituitary gland, detection of anti-pituitary antibodies (APA) and anti-hypotalamus antibodies (AHA) by indirect ...
Source: Autoimmunity Reviews - Category: Allergy & Immunology Source Type: research
Nature Reviews Endocrinology, Published online: 08 August 2019; doi:10.1038/s41574-019-0248-9Emerging evidence demonstrates that an increasing number of novel medications have considerable potential to induce adrenal insufficiency. This condition might lead to acute adrenocortical insufficiency, which is potentially fatal; however, the condition could be avoided if clinicians are more aware of the new findings and their implications.
Source: Nature Reviews Endocrinology - Category: Endocrinology Authors: Source Type: research
CONCLUSIONS: We found that a standard dose of prednisone of 5 mg/day as recommended previously may be inadequate to achieve physiologic glucocorticoid replacement in some patients with prostate cancer while on abiraterone treatment and as a result adrenal insufficiency due to inadequate dosing might be more common than initially thought. Additionally 10 mg of prednisone daily may cause adverse effects in some patients. Thus clinicians should be aware of the potential for development of adrenal insufficiency or symptoms of glucocorticoid excess in these patients receiving prednisone so that appropriate modifications in...
Source: Oncology - Category: Cancer & Oncology Authors: Tags: Oncology Source Type: research
Authors: Matsuo K, Koga M, Oishi M, Kawai M, Kanda T Abstract Isolated adrenocorticotropic hormone deficiency (IAD) is a cause of adrenal insufficiency (AI), which shows impaired secretion of ACTH with the preserved secretion of other anterior pituitary gland hormones. We herein report a case of IAD complicated by chronic thyroiditis presenting with neuropsychiatric symptoms without other signs indicative of AI that showed complete improvement of the cognitive function after the administration of corticosteroids. The clinical features of our case may be confused with autoimmune encephalopathies (AEs); however, IAD ...
Source: Internal Medicine - Category: Internal Medicine Tags: Intern Med Source Type: research
Authors: Nassoro DD, Mkhoi ML, Sabi I, Meremo AJ, Lawala PS, Mwakyula IH Abstract Adrenal insufficiency (AI) is one of the most common endocrine disease in patients with HIV/AIDS, leading to high morbidity and mortality in HIV patients who become critically ill. Various etiologies are associated with the condition, including cytomegalovirus (CMV), Mycobacterium tuberculosis, lymphoma, Kaposi's sarcoma, and drugs such as rifampin, among others. HIV patients with advanced disease develop relative cortisol deficiency largely due to the reduction of cortisol reserve, which predisposes patients to adrenal crisis in peri...
Source: International Journal of Endocrinology - Category: Endocrinology Tags: Int J Endocrinol Source Type: research
Abstract Adrenoleukodystrophy is a genetic diseases classified in the group of peroxisomal disorders caused by mutations in ABCD1, gene located on the X chromosome (Xq28). It demonstrates X-linked recessive inheritance. There is an accumulation of very long-chain fatty acids (VLCFA) in plasma and all tissues in the process of ALD. No causal treatment for ALD is known, although hematopoietic stem cell transplantation (HSCT) and gene therapy are allowed for early diagnosis in childhood cerebral form. The case report describes three of the brothers suffering from ALD, diagnosed in different stages of disease. Th...
Source: Pediatric Endocrinology, Diabetes, and Metabolism - Category: Endocrinology Authors: Tags: Pediatr Endocrinol Diabetes Metab Source Type: research
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