Genetic Counseling in Assisted Reproductive Technology
Carlos Simón, Carmen Rubio in Handbook of Genetic Diagnostic Technologies in Reproductive Medicine, 2022
The 47,XYY syndrome, also known as Jacobs syndrome, is found in 0.1% of the general male population. Most men with 47,XYY are usually fertile (Nussbaum et al., 2004). In the literature, variable meiotic behavior is described among 47,XYY men. Whereas some investigators report no increased incidence of aneuploidy in sperm, others have described a very small but significant increase of diploidy or an increase in both sex chromosome aneuploidy and diploidy (Gardner and Amor, 2018; Rodrigo et al., 2010). Wong et al. (2008) studied germ cells and sperm from a 47,XYY infertile patient, showing the presence of mosaic pachytene cells 46XY/47,XYY leading to an increase in sex and autosome disomy. No discernibly increased risk of having chromosomally abnormal children has been documented (Gardner and Amor, 2018; Nussbaum et al., 2004).
Scientific Basis of Male Hypogonadism
Anthony R. Mundy, John M. Fitzpatrick, David E. Neal, Nicholas J. R. George in The Scientific Basis of Urology, 2010
An extra Y chromosome from paternal meiosis results in 47,XYY syndrome, occurring in about 0.1% of newborn males. There are few clinical signs other than a relatively tall stature. Testicular function is mildly impaired with normal Leydig cell function, and thus the levels of testosterone and LH are within reference range. Although, most patients are fertile, a proportion may be azoo-spermic because of germinal epithelium maturation arrest. Serum FSH levels are usually increased, and cognitive abilities may be reduced in some men. It was originally thought that patients with 47,XYY syndrome have aggressive behavior (38), but there has been no consistent evidence to support this notion.
Genetic Causes of Male Infertility
Botros Rizk, Ashok Agarwal, Edmund S. Sabanegh in Male Infertility in Reproductive Medicine, 2019
47, XYY syndrome is characterized by the presence of an extra Y chromosome and is estimated to present in around 1/1,000 newborn males. However, up to 85% of XYY males are undiagnosed [26]. The common presentations of XYY syndrome include macrocephaly, macro-orchidism, hypotonia, tall stature, and autistic spectrum disorders [27]. Generally, men with XYY syndrome are fertile. There are divergent data on the link between XYY syndrome and increased sperm sex chromosome aneuploidy [28].
Genetic aspects of idiopathic asthenozoospermia as a cause of male infertility
Published in Human Fertility, 2020
Zohreh Heidary, Kioomars Saliminejad, Majid Zaki-Dizaji, Hamid Reza Khorram Khorshid
Elfateh et al. (2014) investigated the influence of genetic abnormalities on semen quality and reproductive hormone levels of 691 infertile men from Northeast China with abnormal sperm parameters and found abnormal chromosomal karyotype in 12% of patients. From these men, there were one AZS with Klinefelter’s syndrome, one AZS and two OAS with chromosomal polymorphism, one OAS with XYY syndrome, one AZS and four OAS with robertsonian translocation, one AZS and five OAS with reciprocal translocation. Azoospermia factor (AZF) region microdeletions in infertile men with normal karyotype were detected in six OAS (AZFb and AZFc) and one AZS (AZFc) and AZFc deletion in two OAT (Elfateh et al., 2014). Similarly, AZF microdeletion was detected in 1/6 OAS patients, while no microdeletions were found in normozoospermic and asthenozoospermic men (Khan, Ganesan, & Kumar, 2010).
Clinical aspects of infertile 47,XYY patients: a retrospective study
Published in Human Fertility, 2019
Parnaz Borjian Boroujeni, Marjan Sabbaghian, Ahmad Vosough Dizaji, Shabnam Zarei Moradi, Navid Almadani, Faranak Mohammadpour Lashkari, Mohamad Reza Zamanian, Anahita Mohseni Meybodi
Generally, 47,XYY syndrome is not a hereditary anomaly but usually occurs as a random mistake in chromosome segregation during spermatogenesis and results in the production of sperm with an extra copy of the Y chromosome which could lead to a child from a father with 47,XYY having an extra Y chromosome in all cells of his body. In some cases, adding the extra Y chromosome is due to non-disjunction in cell division during post-zygotic mitosis in the early development of the foetus and produces the mosaic karyotype 46,XY/47,XYY (Robinson & Jacobs, 1999).
Related Knowledge Centers
- Cytogenetics
- Fertility
- Heredity
- Karyotype
- Spermatogenesis
- Y Chromosome
- Aneuploidy
- Genetic Disorder
- Learning Disability
- Speech–Language Pathology