Clinical and molecular cytogenetic studies in three infertile patients with mosaic rearranged Y chromosomes

Bettio, Daniela; Venci, Anna; Rizzi, Nicoletta; Negri, L; Levi-Setti, Paolo Emanuele

doi:10.1093/humrep/dei426

Cited by 22 publications

(21 citation statements)

References 14 publications

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“…However, short stature is not a consistent finding in all 45,X/46,XY individuals. Some cases had normal stature in our series and this result was similar to several previous reports [4, 9, 10]. This situation may be associated with normal testosterone levels.…”

Section: Discussionsupporting

confidence: 92%

A Rare Cause of Male Infertility: 45,X/46,XY Mosaicism

et al. 2017

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Objective: To present the clinical, chromosomal, and endocrinological features of 8 infertile male cases with the 45,X/46,XY karyotype who were admitted to our infertility clinic. Materials and Methods: The records of cases who were admitted to our infertility clinic between 1999 and 2015 were investigated. Eight cases with 45,X/46,XY were detected. The clinical, endocrinological, and chromosomal assessments were analyzed. Each patient’s height, weight, body mass index, testicular volume, endocrine hormone levels, follow-up period semen analysis, testicular biopsy reports, and karyotype analysis were evaluated retrospectively. Results: Some cases had a short stature, but often their phenotypes were normal. Seven of the cases had normal testosterone levels and all cases, except one, had elevated gonadotropin levels. All cases were azoospermic and testicular biopsy showed Sertoli cell-only syndrome. Peripheral blood karyotype revealed 45,X/46,XY mosaicism in all cases. Metaphase counts and percentages were different. Conclusions: Individuals with 45,X/46,XY mosaicism that have a normal male phenotype form make up a rare subgroup of the 45,X/46,XY karyotype. These individuals usually present with infertility and were diagnosed based on the results of the karyotype analysis during azoo or severe oligospermia evaluation.

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Section: Discussionsupporting

confidence: 92%

A Rare Cause of Male Infertility: 45,X/46,XY Mosaicism

et al. 2017

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“…Although less clear in 45,X/46,XY males with bilaterally descended testes, phenotypic 45,X females (regardless of mosaicism) have an increased risk of congenital anomalies, Down syndrome, fetal wastage, and 45,X offspring (15). Bettio et al (16) described three infertile males with 45,X/46,X,idic(Yq11), normal height (171,163, and 170 cm respectively), azoospermia, elevated gonadotropins in two patients, normal LH and testosterone in one patient. The normal stature in all three patients may be related to the presence of three copies of the statural determining gene SHOX in the isodicentric Y cells.…”

Section: Discussionmentioning

confidence: 99%

Phenotypic spectrum of 45,X/46,XY males with a ring Y chromosome and bilaterally descended testes

Layman

Tho

Clark

et al. 2009

Fertility and Sterility

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MAIN OUTCOME MEASURES-Clinical phenotype vs. genotypeRESULTS-Both prepubertal males had short stature and low testosterone. All three adults had normal puberty and normal testosterone levels. Two of the adults (one with short stature and one with normal stature) had elevated gonadotropins and azoospermia. The third adult had normal stature, severe oligospermia, normal gonadotropins, and normal serum testosterone. CONCLUSIONS-The phenotypic spectrum of males with a 45,X/46,X(r)Y karyotype and bilaterally descended testes varies greatly from males with short stature and spermatogenic failure to males without short stature and less severely affected spermatogenesis. This broad spectrum of phenotypic findings needs to be taken into account when the clinical geneticist encounters a prenatal diagnosis of a 45,X/46,X(r)Y karyotype. This information will also be helpful for pediatric and reproductive endocrinologists in counseling males with bilaterally descended testes and a 45,X/46,X(r)Y karyotype.Address reprint requests to Lawrence C. Layman, M.D. Section

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Section: Introductionmentioning

confidence: 99%

“…Abnormalities in the number or the structure of sex chromosomes are sometimes associated with a wide spectrum of phenotypes, ranging from almost male through mixed gonadal dysgenesis to female with Turner syndrome [1]. The most common structural abnormalities of the human Y chromosome are dicentrics [1]. Patients with ambiguous genitalia and patients with Turner syndrome, beside a 45,X cell line, frequently have an additional one that contains structural abnormalities of the Y chromosome [2][3][4].…”

Section: Introductionmentioning

confidence: 99%