Increasing Infertility in Myotonia dystrophica Curschmann-Steinert

Hauser, W. Allen; Aulitzky, W.; Baltacı, Sümer; Frick, J

doi:10.1159/000471729

Cited by 6 publications

(3 citation statements)

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“…Fertility of DM males can also be affected; Hortas et al (2000) report that this is due to deficient capacitation and acrosome reactions in spermatozoa of DM patients. Hauser et al (1991) also report that DM causes sclerosis of the tubuli seminiferi contorti, which can ultimately lead to azoospermia.…”

Section: Myotonic Dystrophymentioning

confidence: 91%

The genetic basis of infertility

Shah¹,

Sivapalan²,

Gibbons³

et al. 2003

Reproduction

142

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Infertility is defined as the inability to conceive after one year of regular unprotected intercourse; approximately one in six couples wishing to start a family fall into this category. Although, in many cases, the diagnosis is simply 'unexplained', a variety of reasons including lack of ovulation, mechanical stoppage, sperm deficiencies and parental age have been implicated. It is difficult to assess accurately the overall magnitude of the contribution of genetics to infertility as most, if not all, conditions are likely to have a genetic component, for example susceptibility to infection. Nevertheless, a significant number of infertility phenotypes have been associated with specific genetic anomalies. The genetic causes of infertility are varied and include chromosomal abnormalities, single gene disorders and phenotypes with multifactorial inheritance. Some genetic factors influence males specifically, whereas others affect both males and females. For example, chromosome translocations affect both males and females, whereas Klinefelter syndrome and the subsequent infertility phenotype caused by it are specific to males. This article reviews current research in the genetic basis of infertility; gender-specific disorders and those affecting both sexes are considered.

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Section: Myotonic Dystrophymentioning

confidence: 91%

The genetic basis of infertility

Shah¹,

Sivapalan²,

Gibbons³

et al. 2003

Reproduction

142

View full text Add to dashboard Cite

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Section: Myotonic Dystrophymentioning

confidence: 91%

The genetic basis of infertility

Shah¹

2003

Reproduction

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“…Infertility or hypogonadism are unrelated to the number of CTG repeats [100,101]. Infertility can be the first symptom of the disease [79,102]. An association between myotonic dystrophy and Klinefelter syndrome has been reported [103,104].…”

Section: Hypogonadism Associated With Myopathiesmentioning

confidence: 99%

Perspectives in Pediatric Pathology, Chapter 17. Other Hypergonadotropic Hypogonadisms

et al. 2016

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Several complex syndromes have in common the development of hypergonadotropic hypogonadism. In a large number of them, such as Down syndrome, hypogonadism associated with myopathies (myotonic dystrophy and progressive muscular dystrophy), syndromes of Werner, Alström, and Weinstein, and the hypogonadism associated with alopecia, the testicular biopsy is similar to that observed in 47XXY Klinefelter syndrome, except for the absence of sex chromatin. In other examples, including Noonan syndrome and hypogonadism associated with cerebellar atrophy, testicular abnormalities are less severe. Noonan and Ehmke [1] first described this syndrome in 1963. Patients feature a male phenotype and 46XY karyotype, although they have somatic anomalies similar to those of Turner syndrome, including atypical facies (Fig. 17.1), hypertelorism, down-slanting palpebral fissures, ptosis, low set and posteriorly rotated ears, small mandible, short neck, pterygium colli, short stature, puffy hands and feet, short metacarpals, shield chest, widely spaced nipples, cubitus valgus, nail deformities, mental retardation, and lymphedema [2]. Approximately 62% of these patients show pulmonary artery stenosis, and 20% develop hypertrophic myocardiopathy [3,4]. Aortic coarctation may also occur, as in patients with Turner syndrome [5,6]. Peripheral vascular malformations may also develop [7,8]. The incidence of Noonan syndrome is estimated in 1:1000 to 1:2500 live births [9], with an autosomal dominant inheritance pattern in most cases. In half of the cases, the fathers show some features of the syndrome [10,11]. Noonan syndrome is a genetically heterogeneous disorder linked to the chromosomal band 12q24 [1]. In 75% of the cases Noonan syndrome is caused by activating mutations in PTPN [11,12], SOS1 [13,14], RAF1 [15,16] and less frequently in KRAS [17], NRAS [18] or SHOC2 [19]. Noonan syndrome is considered a RASopathy and is included in a group of genetic syndromes with germline mutations in genes of the

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Increasing Infertility in Myotonia dystrophica Curschmann-Steinert

Cited by 6 publications

References 0 publications

The genetic basis of infertility

The genetic basis of infertility

The genetic basis of infertility

Perspectives in Pediatric Pathology, Chapter 17. Other Hypergonadotropic Hypogonadisms

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