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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.
Non-Invasive Prenatal Testing for “Non-Medical” Traits: Ensuring Consistency in Ethical Decision-Making
Published in The American Journal of Bioethics, 2023
Hilary Bowman-Smart, Christopher Gyngell, Cara Mand, David J. Amor, Martin B. Delatycki, Julian Savulescu
NIPT currently also screens for conditions that may not be considered “serious” health problems. There is an SCA that can be identified by NIPT called triple X syndrome (47,XXX). In the case of 47,XXX, the children are females and have an extra X chromosome. This aneuploidy results in an average reduction of 20 intelligence quotient (IQ) points (Otter, Schrander-Stumpel, and Curfs 2010); this does not usually result in an intellectual disability. Otherwise, the symptom profile is mild enough that only a small minority of individuals with 47,XXX ever come to clinical attention (Wigby et al. 2016). The primary physical trait is increased height, and there is also an increased risk for psychiatric disorders such as depression (Wigby et al. 2016). A 2019 Danish nationwide cohort study found that 87% of females with 47,XXX are undiagnosed and the incidence is likely to be higher than previously thought (Berglund et al. 2019).
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
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.