"Triple-A syndrome"

Case report of a familial triple: a syndrome and review of the literature. Triple-A syndrome, or Allgrove syndrome (AS), is a rare autosomal recessive disorder characterized by the alacrimia, achalasia, and adrenal insufficiency triad. Alacrimia usually starts at early infancy, while achalasia and adrenal insufficiency appear later during childhood or adulthood. Some patients may also present

Triple-A syndrome: a wide spectrum of adrenal dysfunction. Triple-A or Allgrove syndrome is an autosomal recessive disorder due to mutations in the gene, which encodes a nucleoporin named ALADIN. It is characterized by a classical clinical triad: alacrima, achalasia and adrenal insufficiency, the canonic symptoms that are associated with progressive peripheral neuropathy. Only a few cohorts

Ashtawarga plants – Suffering a triple standardization syndrome Ayurveda is one of the oldest known holistic health care systems recommending diverse medicinal uses of plants for prevention and cure of diseases and illness. World Health Organization (WHO) estimates that the holistic system is gaining more popularity due to its easy availability, low cost, congeniality, better accessibility

Management of Triple M syndrome: A systematic review of immune-checkpoint-inhibitor induced myasthenia gravis, myositis and myocarditis PROSPERO International prospective register of systematic reviews Print | PDF PROSPERO This information has been provided by the named contact for this review. CRD has accepted this information in good faith and registered the review in PROSPERO. The registrant

Triple X syndrome and puberty: focus on the hypothalamus-hypophysis-gonad axis. To evaluate the hypothalamus-hypophysis-gonad axis in a cohort of children and adolescents with nonmosaic triple X syndrome. Cross-sectional study with retrospective analysis. University pediatric hospital. Fifteen prepubertal subjects (median age 9.0 years, range 6.9-11.9 years) with nonmosaic triple X syndrome

High Myopia Associated with Triple X Syndrome We report our findings in a 3-year-old girl who was suspected of having triple X syndrome because she was taller than +4.35 standard deviations for her age. She also had high myopia. Optical coherence tomography (OCT) showed that her retinas were thin, the lenses were subluxated, and the axial length was elongated. Our findings indicate

Low bone mineral density for age/osteoporosis in triple A syndrome-an overlooked symptom of unexplained etiology. Triple A syndrome (alacrima, achalasia, adrenal failure, progressive neurodegenerative disease) is caused by mutations in the AAAS gene which encodes the protein alacrima achalasia adrenal insufficiency neurologic disorder (ALADIN). Our investigation suggests that low bone mineral density (BMD) for age/osteoporosis could be a common but overlooked symptom of unexplained etiology in this rare multisystemic disease. The purpose of this study is to evaluate incidence and etiology of BMD for age/osteoporosis, a possibly overlooked symptom in triple A syndrome. Dual-energy X-ray absorptiometry (DXA) of the femoral neck, total hip, lumbar spine, and radius, bone turnover markers

Allgrove (Triple A) Syndrome: A Case Report from the Kashmir Valley Allgrove (Triple A) syndrome is a rare autosomal recessive disorder characterized by cardinal features of adrenal insufficiency due to adrenocorticotropic hormone (ACTH) resistance, achalasia, and alacrimia. It is frequently associated with neurological manifestations like polyneuropathy. Since its first description by Allgrove

A Case Associated with Comorbidities Among Cerebral Infarction, Idiopathic Thrombocytopenic Purpura, and Triple X Syndrome A 46-year-old female presented to the emergency room due to the chief complaint of left-sided weakness. By imaging study, she was diagnosed with cerebral infarction. Thrombolytic and antiplatelet agents were not considered due to the "golden hour" for treatment having passed and a low platelet count. The peripheral blood smear, bone marrow biopsy, and aspirate findings were consistent with immune thrombocytopenic purpura. The chromosome analysis revealed the 47,XXX karyotype. To the best of our knowledge, this is the first case report associated with the comorbidities of cerebral infarction, idiopathic thrombocytopenic purpura, and triple X syndrome.

with genetic syndromes, such as Down Syndrome (in which individuals have an additional Chromosome 21). Sex chromosome aneuploidies (having an atypical number of sex chromosomes) result in a variety of genetic syndromes (including Triple X syndrome, Klinefelter’s Syndrome and Turner Syndrome) with a wide range of psychiatric, neuropsychological and phys-ical presentations. (For more information, the Society

(SCA)- a group of chromosome disorders characterized by an unbalanced number (loss or gain of one or more) of the sex chromosomes. Includes conditions such as Turner syndrome (45,X), Klinefelter syndrome (47,XXY), triple X syndrome (47,XXX), and Jacob’s syndrome (47, XYY). Copy number variants (CNVs)- A variation in the number of copies of a segment of chromosomal DNA that is typically present

Novel recurrent mutations and genetic diversity in Sudanese children with Adrenal Insufficiency. Studies of Primary Adrenal Insufficiency (PAI) in African children are rare but in Sudan, congenital adrenal hyperplasia (CAH) and Triple A syndrome are the most common genetic causes. Differential diagnosis is challenging, especially in resource-limited settings, where presentation can mimic common

) of our cohort. Amniocentesis was proposed to 86.0% (184/214) and performed in 70.1% (129/184) of cases. Of the 184 karyotypes performed, two (1.6%) were abnormal (one trisomy 21 and one triple X syndrome). Of the 103 microarrays performed, two (1.9%) revealed a pathogenic copy number variation (one with a de novo 18p deletion and one with a de novo 22q11.2 deletion) (DiGeorge syndrome). Neuromuscular

with achalasia and alacrima (as in achalasia-addisonism-alacrima syndrome, or triple A syndrome [AAAS]) (OMIM 231550). [12, 13] .Acquired primary adrenal insufficiencyIn developed countries, the most common cause of adrenal insufficiency (Addison disease) is autoimmune destruction of the adrenal cortex. [14] This disorder may occur in isolation or may be part of a polyglandular autoimmune disorder (PGAD Endocrinol Metab. 1994. 5:209-14. [Full Text]. 12. Handschug K, Sperling S, Yoon SJ, Hennig S, Clark AJ, Huebner A. Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene. Hum Mol Genet. 2001 Feb 1. 10(3):283-90. [QxMD MEDLINE Link]. 13. Grant DB, Barnes ND, Dumic M, Ginalska-Malinowska M, Milla PJ, von Petrykowski W. Neurological and adrenal dysfunction

. [QxMD MEDLINE Link]. [Full Text]. 4. Cronshaw JM, Matunis MJ. The nuclear pore complex protein ALADIN is mislocalized in triple A syndrome. Proc Natl Acad Sci U S A. 2003 May 13. 100(10):5823-7. [QxMD MEDLINE Link]. [Full Text]. 5. Li W, Gong C, Qi Z, Wu DI, Cao B. Identification of AAAS gene mutation in Allgrove syndrome: a report of three cases. Exp Ther Med. 2015 Oct. 10(4 ):1277-82. [QxMD MEDLINE Link]. [Full Text]. 6. Sarathi V, Shah NS. Triple-A syndrome. Adv Exp Med Biol. 2010. 685:1-8. [QxMD MEDLINE Link]. 7. Prasad R, Kowalczyk JC, Meimaridou E, Storr HL, Metherell LA. Oxidative stress and adrenocortical insufficiency. J Endocrinol. 2014 Jun. 221(3):R63-73. [QxMD MEDLINE Link]. [Full Text]. 8. Roy FH. Allgrove syndrome. Ocular

, Hung W, Chrousos GP. Hereditary isolated glucocorticoid deficiency is associated with abnormalities of the adrenocorticotropin receptor gene. J Clin Invest. 1993 Nov. 92(5):2458-61. [QxMD MEDLINE Link]. [Full Text]. 41. Tullio-Pelet A, Salomon R, Hadj-Rabia S, et al. Mutant WD-repeat protein in triple-A syndrome. Nat Genet. 2000 Nov. 26(3):332-5. [QxMD MEDLINE Link]. 42. Weber

), Klinefelter syndrome (47,XXY), triple X syndrome (47,XXX), and 47,XYY syndrome. However, the loss of a single chromosome (monosomy) is also possible, as can be seen in those with Turner syndrome (45,X). An increased risk of having a child with an aneuploidy is the most common reason couples are referred for prenatal testing. The prenatal diagnosis of chromosome abnormalities requires an analysis of fetal

"Crying without tears" as an early diagnostic sign-post of triple A (Allgrove) syndrome: two case reports. Triple A syndrome (or Allgrove syndrome) is a rare autosomal recessive disorder characterized by alacrima, achalasia, adrenal insufficiency and autonomic/neurological abnormalities. The majority of cases are caused by mutations in the AAAS gene located on chromosome 12q13. However , the clinical picture as well as genetic testing may be complex since symptomatology is variable and mutations cannot be identified in all clinically diagnosed patients. We present two unrelated patients with triple-A syndrome illustrating the importance of alacrima as an early clinical sign. A 3.5 year old girl presented with repeated hypoglycaemic myoclonic events. Adrenal insufficiency was diagnosed

Compensation for chronic oxidative stress in ALADIN null mice Mutations in the gene coding for the nuclear pore complex protein ALADIN lead to the autosomal recessive disorder triple A syndrome. Triple A patients present with a characteristic phenotype including alacrima, achalasia and adrenal insufficiency. Patient fibroblasts show increased levels of oxidative stress, and several studies have demonstrated that the nucleoporin ALADIN is involved in both the cellular oxidative stress response and adrenal steroidogenesis. It is known that ALADIN knock-out mice lack a phenotype resembling human triple A syndrome. The objective of this study was to determine whether the application of chronic oxidative stress by ingestion of paraquat would generate a triple A-like phenotype in ALADIN null