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Genetic Counseling in Assisted Reproductive Technology
Published in Carlos Simón, Carmen Rubio, Handbook of Genetic Diagnostic Technologies in Reproductive Medicine, 2022
Trisomy X is compatible with life and causes a genetic syndrome called Triple X syndrome. Triple X syndrome is common in the human population with an incidence of 1/1000 female births. Most pregnancies identified to have Triple X syndrome are able to develop to term. Triple X syndrome is not phenotypically recognizable at birth. Affected individuals may appear taller than average and have learning disabilities. Fertility is usually normal.
Endocrinology
Published in Stephan Strobel, Lewis Spitz, Stephen D. Marks, Great Ormond Street Handbook of Paediatrics, 2019
Mehul Dattani, Catherine Peters
The incidence of congenital adrenal hypoplasia has been reported as 1 in 12,500 births. Inheritance is either as an autosomal or X-linked recessive condition. Mutations in the DAX1 gene are associated with the X-linked form of the disease. Autoimmune adrenal insufficiency is associated with the two types of polyglandular autoimmune syndrome (Table 13.2). Type I is associated with mutations in the AIRE (autoimmune regulator) gene on chromosome 21. Familial glucocorticoid deficiency (FGD) and triple A syndrome are characterised by an insensitivity to adrenocorticotrophic hormone (ACTH) concentrations. FGD is caused by mutations in the ACTH receptor (MC2R), or mutations in the MC2R accessory protein MRAP. More recently, mutations in the genes encoding nicotinamide nucleotide transhydrogenase (NNT) and minichromosome maintenance-deficient 4 (MCM4) have also been associated with FGD. Triple A syndrome is autosomal dominant and secondary to mutations in the ALADIN gene.
Esophageal Motility: Measures and Disorders of Esophageal Motor Function
Published in John F. Pohl, Christopher Jolley, Daniel Gelfond, Pediatric Gastroenterology, 2014
It is mostly an isolated condition; however, it can occur together with other abnormalities. The most common syndrome is called triple-A syndrome; an autosomal recessive disease characterized by achalasia, alacrimia, and Addison disease. The gene responsible, AAAS, is located on chromosome 12q13. In children with this syndrome, neurologic and dermatologic disorders are also observed in addition to facial dysmorphism.
Congenital alacrima
Published in Orbit, 2022
Zhenyang Zhao, Richard C. Allen
Triple A syndrome (AAAS) is an autosomal recessive disorder featured by adrenocortical insufficiency, alacrimia and achalasia cardia. Clinically evident autonomic dysfunction ensues in 30% of the patients, however, subclinical autonomic abnormalities are universally found early in life, presenting as alacrima, pupillary abnormalities and variable heart rate.23,24 Therefore, AAAA syndrome or ‘quaternary A syndrome’ is often used to emphasize the autonomic feature. The pathogenic mutation of this disease is identified in the AAAS gene, which has high expression in the adrenal gland, gastrointestinal tract, pituitary gland, and fetal lungs. Diagnostic investigation of AAAS is usually triggered by the childhood manifestation of glucocorticoid deficiency, such as hypoglycemic episodes or shock. However, ocular signs are the earliest and the most consistent features, which are frequently missed.59
Evaluating the Scope of Language Impairments in a Patient with Triple X Syndrome: A Brief Report
Published in Developmental Neurorehabilitation, 2020
Puck Christine van Elst, Maarten Otter, Frank Wijnen, Caroline Junge
The phenotype of triple X syndrome lists a variety of physical, psychiatric, and cognitive features [for reviews, see6–7-89]. The physical features are best understood: These are usually subtle and variable, and include long legs or tall stature, small head circumference, scoliosis, poor motor coordination, and infertility.3,6 The psychiatric characteristics that are more frequent than in the general population include mood disorders (anxiety and depression), shyness, lower self-esteem, and attention deficits. Some researchers noted the similarities between patients with triple X syndrome and people with autism spectrum disorder (ASD) in their communicative abilities.10 Indeed, cognitive limitations often manifest themselves in the verbal domain with delays in language [e.g.11–12-1314] and in reduced executive functions.15
AAMR syndrome in a 22-month-old and literature review
Published in Ophthalmic Genetics, 2022
Mark A. Oet, Venkatesh Brahma, James McGrath, Jennifer A. Galvin
A congenital condition involving alacrima is Triple-A syndrome. In 1978, Allgrove first described this syndrome in patients with a triad of symptoms, which included alacrima, achalasia, and adrenal (glucocorticoid) insufficiency (2). Triple-A syndrome is caused by a mutation in the AAAS gene, which codes for the ALADIN (Alacrima Achalasia adrenal Insufficiency Neurologic Disorder) protein, which is located on chromosome 12 (3). In addition, a fourth “A,” autonomic dysfunction, has been noted in patients with Triple-A syndrome (4). Of note, there is much heterogeneity in syndromes involving alacrima.