45,X/46,XY mixed gonadal dysgenesis: A case of successful sperm extraction

Flannigan, Ryan; Chow, Victor; Ma, Sai; Yuzpe, A. Albert

doi:10.5489/cuaj.1574

Cited by 29 publications

(15 citation statements)

References 13 publications

(11 reference statements)

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“…Higher gonadotropin levels and normal testosterone levels were detected in this subgoup [4, 7, 9, 11]. A low testosterone level was detected only in one case (case 8) and this case had the highest gonadotropin levels.…”

Section: Discussionmentioning

confidence: 99%

“…Bofinger and colleagues described successful conception of offspring with the use of intracytoplasmic sperm injection in the setting of 45,X/46,X(r)Y karyotypes [21]. Flannigan et al [11] presented a report of successful sperm extraction from a patient with 45,X/46,XY mixed gonadal dysgenesis. In our case population, all the cases were azoospermic.…”

Section: Discussionmentioning

confidence: 99%

“…This interesting subgroup has usually been evaluated as case reports or as a small part of the case population in previous studies [4, 5, 7-11]. The objective of the current study is to describe the phenotypic, genotypic, and endocrinological features of 8 cases with 45,X/46,XY mosaicism who were diagnosed in a single tertiary infertility clinic.…”

Section: Introductionmentioning

confidence: 99%

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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: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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

et al. 2017

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“…Whilst it is generally considered that individuals with 45,X/46,XY are infertile, there are isolated case reports of fertility in both males and females. A single case of successful sperm extraction was reported in a patient with azoospermia [138]. This individual had a 50:50 split in mosaicism and 96% of the retrieved sperm were aneuploid.…”

Section: Klinefelter Syndromementioning

confidence: 99%

Disorders of Sex Development—Novel Regulators, Impacts on Fertility, and Options for Fertility Preservation

Gomes

Chetty

Jørgensen

et al. 2020

IJMS

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Disorders (or differences) of sex development (DSD) are a heterogeneous group of congenital conditions with variations in chromosomal, gonadal, or anatomical sex. Impaired gonadal development is central to the pathogenesis of the majority of DSDs and therefore a clear understanding of gonadal development is essential to comprehend the impacts of these disorders on the individual, including impacts on future fertility. Gonadal development was traditionally considered to involve a primary ‘male’ pathway leading to testicular development as a result of expression of a small number of key testis-determining genes. However, it is increasingly recognized that there are several gene networks involved in the development of the bipotential gonad towards either a testicular or ovarian fate. This includes genes that act antagonistically to regulate gonadal development. This review will highlight some of the novel regulators of gonadal development and how the identification of these has enhanced understanding of gonadal development and the pathogenesis of DSD. We will also describe the impact of DSDs on fertility and options for fertility preservation in this context.

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“…Microdeletions of the Y chromosome, especially the AZFb and AZFc regions which harbor several genes, are responsible for abnormal spermatogenesis, and may also be the cause of 45,X cell line mosaicism in early stages of embryonic development [Dos et al, 2013]. In vitro fertilization with intracytoplasmic sperm injection [Silber, 2011;Park et al, 2013;Flannigan et al, 2014] and preimplantation genetic screening are necessary, since these patients may generate not only male offspring with sterility but also carriers with a 45,X cell line [Siffroi et al, 2000].…”

Section: Discussionmentioning

confidence: 99%

The Clinical Manifestation and Genetic Evaluation in Patients with 45,X/46,XY Mosaicism

Shi²,

Kong³

et al. 2017

Sex Dev

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45,X/46,XY mosaicism is a rare chromosomal abnormality and probably underdiagnosed. Although clinical and genetic analyses have been performed in some disorders of sexual development, there have been few studies focusing on the phenotype and genetic details of 45,X/46,XY mosaicism, especially in the Chinese population. The aim of this study was to describe the experience of our service in relation to 16 cases with 45,X/46,XY mosaicism. The age at the first evaluation of the patients ranged from 43 days to 30 years. Eight patients were reared as female and 8 as male. The main reasons for examination were primary amenorrhea, sterility, or ambiguous genitalia. Short stature was more common in female than in male patients. Two patients accepted gonadectomy due to tumor risk and none presented gonadal malignancy. The SRY gene was amplified positively in all of the patients. AZF gene microdeletions were present in 6 of 8 male patients, and all adult male patients had no sperm. No correlation has been found between clinical manifestations and the proportion of mosaic cells in peripheral blood. Our observations may permit a better management of people with 45,X/46,XY mosaicism.

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45,X/46,XY mixed gonadal dysgenesis: A case of successful sperm extraction

Cited by 29 publications

References 13 publications

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

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

Disorders of Sex Development—Novel Regulators, Impacts on Fertility, and Options for Fertility Preservation

The Clinical Manifestation and Genetic Evaluation in Patients with 45,X/46,XY Mosaicism

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