ALLGROVE (TRIPLE-A) SYNDROME IN PUERTO RICAN KINDREDS MAPS TO CHROMOSOME 12(12q13). † 630
نویسندگان
چکیده
منابع مشابه
Triple A (Allgrove) syndrome: an unusual association with syringomyelia
Triple A (Allgrove) syndrome was first described by Allgrove in 1978 in two pairs of siblings. Since then, about 100 cases have been reported, all of them displaying an autosomal recessive pattern of inheritance. Clinical picture is characterized by achalasia, alacrimia and ACTH-resistant adrenal failure. A progressive neurological syndrome including central, peripheral and autonomic nervous sy...
متن کاملAllgrove syndrome.
Allgrove syndrome is a rare autosomal recessive disorder. It is also known as the 3A syndrome and characterised by the triad of achalasia, alacrima and adrenal insufficiency. The AAAS gene is encoded on chromosome 12q13. We report the case of a 23-year-old woman who presented at the hospital with adrenal crisis that was triggered by infection of the urinary system and gastrointestinal bleeding....
متن کاملtriple-a syndrome (allgrove syndrome) in iranian children:report of 4 cases
allgrove syndrome also known as triple-a syndrome is an autosomal recessive disorder characterized by alacremia, achalasia and acth-resistant adrenal insufficiency. although this syndrome is rare, herein we report four cases with different clinical manifestations. they were referred to the gastrointestinal ward during a one year period with complaints of vomiting and dysphagia. the diagnosis of...
متن کاملDyspareunia in Puerto Rican middle-aged women.
OBJECTIVE Dyspareunia is a common sexual dysfunction. There is a lack of studies that address female sexual dysfunction in Puerto Rico. The present cross-sectional study characterized dyspareunia in a sample of Puerto Rican women aged 40 to 59 years and evaluated the relationship between reported dyspareunia with demographic, lifestyle, and health factors. METHODS Nine hundred twenty Puerto R...
متن کاملAllgrove (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 in 1978, approximately 100 cases have been reported in the literatu...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1997
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-199704001-00650