X-linked adrenoleukodystrophy diagnosed in three brothers.

X-linked adrenoleukodystrophy diagnosed in three brothers. Pediatr Endocrinol Diabetes Metab. 2019;25(2):95-98 Authors: Herman M, Jura M, Krakowska K, Barg E 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. The eldest brother was diagnosed by the age of nine, with the first symptom of hearing loss. After that, test was also conducted in boy's younger brother - he was then asymptomatic, however diagnosed with ALD at age 7. The mutation in the ABCD1 gene was also detected in the mother's blood. Due to the significant severity of the disease, the eldest boy was not qualified for HSCT. Nowadays, 2 years after, the health condition of the eldest brother is severe. The middle brother underwent HSCT. Currently, the he is in a good general condition. The youngest brother had genetic testing performed shortly after birth. The mutation in the ABCD1 gene also was confirmed, but in this moment there is...
Source: Pediatric Endocrinology, Diabetes, and Metabolism - Category: Endocrinology Authors: Tags: Pediatr Endocrinol Diabetes Metab Source Type: research

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Publication date: Available online 18 September 2019Source: The Lancet Diabetes &EndocrinologyAuthor(s): Maria Fleseriu, Rosario Pivonello, Atanaska Elenkova, Roberto Salvatori, Richard J Auchus, Richard A Feelders, Eliza B Geer, Yona Greenman, Przemyslaw Witek, Fredric Cohen, Beverly M K BillerSummaryBackgroundLevoketoconazole is a ketoconazole stereoisomer in development for treatment of Cushing's syndrome and has not been assessed previously in a clinical trial in patients with Cushing's syndrome. We aimed to investigate the efficacy and safety of levoketoconazole in patients with endogenous Cushing's syndrome.Metho...
Source: The Lancet Diabetes and Endocrinology - Category: Endocrinology Source Type: research
We report a 48-year-old HIV-negative, diabetic male who presented with fever and adrenal insufficiency. Abdominal sonography and PET-CT revealed bilateral enlarged adrenal glands with peripheral enhancement and central necrosis. An endoscopic ultrasound-guided fine-needle aspiration cytology of the left adrenal gland demonstrated well-defined, round cysts of PJ. There was no evidence of pulmonary involvement. The response to first-line treatment was poor and the patient responded to second-line treatment for Pneumocystis infection. PMID: 31497790 [PubMed - in process]
Source: Journal of the Royal College of Physicians of Edinburgh - Category: General Medicine Tags: J R Coll Physicians Edinb 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
Authors: Arima H, Iwama S, Inaba H, Ariyasu H, Makita N, Otsuki M, Kageyama K, Imagawa A, Akamizu T Abstract Immune checkpoint inhibitors (ICIs) have become a promising treatment for advanced malignancies. However, these drugs can induce immune-related adverse events (irAEs) in several organs, including skin, gastrointestinal tract, liver, muscle, nerve, and endocrine organs. Endocrine irAEs comprise hypopituitarism, primary adrenal insufficiency, thyroid dysfunction, hypoparathyroidism, and type 1 diabetes mellitus. These conditions have the potential to lead to life-threatening consequences, such as adrenal crisi...
Source: Endocrine Journal - Category: Endocrinology Tags: Endocr J Source Type: research
Abstract A previously healthy 40-year-old Japanese male was urgently admitted with a 2-month history of dysphagia, 30-kg weight loss, and fever. Human immunodeficiency virus (HIV) antibodies and cytomegalovirus antigenemia were positive. Pneumocystis pneumonia and cytomegalovirus pneumonia were suspected. The patient was diagnosed with acquired immune deficiency syndrome (AIDS). Cytomegalovirus antigenemia became negative 20 days after the positive result. On hospital day 41, he experienced cardiopulmonary arrest. The clinical diagnosis was fulminant type 1 diabetes mellitus. He later developed hypoglycemia and wa...
Source: Acta Med Okayama - Category: Universities & Medical Training Authors: Tags: Acta Med Okayama Source Type: research
Authors: Howell JC, Rose SR Abstract Introduction: Treatment of childhood brain tumors, including surgical resection and especially external beam radiation, often results in endocrine complications manifested by hypopituitarism, which can involve growth hormone deficiency, hypothyroidism, adrenal insufficiency, disorders of puberty, diabetes insipidus, and hypothalamic obesity. Areas covered: A comprehensive literature search was conducted on Medline (publications from the 1990s to 01/2019) including systematic reviews, meta-analyses, longitudinal controlled studies, retrospective cohort studies, and case reports. ...
Source: Expert Review of Endocrinology and Metabolism - Category: Endocrinology Tags: Expert Rev Endocrinol Metab Source Type: research
Conclusion The basal cortisol level on the second postoperative day is a valuable tool to predict integrity of the HPA axis after pituitary tumor surgery. Our data suggest that the cortisol level of ≥300 nmol/L accurately predicts adrenal sufficiency and that in these patients glucocorticoid therapy can be withdrawn. [...] © Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals: Table of contents  |  Abstract  |  Full text
Source: Experimental and Clinical Endocrinology and Diabetes - Category: Endocrinology Authors: Tags: Article Source Type: research
AbstractPrader-Willi syndrome (PWS) is a genetic disorder characterized by short stature, low lean body mass, muscular hypotonia, mental retardation, behavioral abnormalities, dysmorphic features, and excessive appetite with progressive obesity. It is caused by lack of expression of genes on the paternally inherited chromosome 15q11.2-q13. This genetic disorder has an estimated prevalence that ranges between 1/10,000 –1/30,000. Hypothalamic dysfunction is a common finding in PWS and it has been implicated in several manifestations of this syndrome such as hyperphagia, temperature instability, high pain threshold, sle...
Source: Reviews in Endocrine and Metabolic Disorders - Category: Endocrinology Source Type: research
Abstract Prader-Willi syndrome (PWS) is a genetic disorder characterized by short stature, low lean body mass, muscular hypotonia, mental retardation, behavioral abnormalities, dysmorphic features, and excessive appetite with progressive obesity. It is caused by lack of expression of genes on the paternally inherited chromosome 15q11.2-q13. This genetic disorder has an estimated prevalence that ranges between 1/10,000-1/30,000. Hypothalamic dysfunction is a common finding in PWS and it has been implicated in several manifestations of this syndrome such as hyperphagia, temperature instability, high pain threshold, ...
Source: ENDOCR REV - Category: Endocrinology Authors: Tags: Rev Endocr Metab Disord Source Type: research
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