A Clinical and Cytogenetic Study of Fifteen Patients with 45,X/46,XY Gonadal Dysgenesis

Gantt, Pickens A.; Byrd, J. Rogers; Greenblatt, Robert B.; McDonough, Paul G.

doi:10.1016/s0015-0282(16)44950-2

Cited by 62 publications

(9 citation statements)

References 10 publications

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“…Previous studies have shown that individuals with the 45,X/46,XY karyotype have an increased risk of developing gonadal tumours regardless of phenotype [4, 5, 6, 7, 8, 9, 10]. This study has shown that premalignant histological changes may be detected in boys with 45,X/46,XY and cryptorchidism and/or hypospadias who were referred for gonadal biopsy or gonadectomy.…”

Section: Discussionmentioning

confidence: 62%

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Management of Males with 45,X/46,XY Gonadal Dysgenesis

et al. 1999

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Males with the 45,X/46,XY karyotype and malformations of the external genitalia carry an increased risk of developing germ cell neoplasia of the gonads. We have studied gonadal tissue from 10 individuals, 0.3–17 years of age, with a male phenotype and either hypospadias and/or cryptorchidism. Four patients, 0.3–15 years of age, had carcinoma in situ, 1 boy had Sertoli-cell-only pattern and the remainder prepubertal histology. Gonadoblastoma or invasive carcinoma was not found. On the basis of our current knowledge we propose a strategy for management and follow-up of these boys in order to detect possible premalignant histological changes early and prevent development of a gonadal tumour.

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Section: Discussionmentioning

confidence: 62%

“…Previous studies have indicated that patients with 45,X/46,XY mosaicism carry an increased risk of developing a germ cell neoplasia in the gonads [4, 5, 6, 7, 8, 9, 10]. Both carcinoma in situ (CIS), gonadoblastoma and invasive tumours have been detected before puberty in such individuals [11, 13].…”

Section: Introductionmentioning

confidence: 99%

Management of Males with 45,X/46,XY Gonadal Dysgenesis

et al. 1999

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“…Sexual ambiguity is the most common presentation for the 45,X/46,XY karyotype [14]. However, the phenotypic spectrum is wide.…”

Section: Discussionmentioning

confidence: 99%

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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“…The only exception, to the best of our knowledge, was described by Arnedo and collaborators in 2005 [41]. As a general rule, mosaic patients with a male habitus manifest gonadal failure and short stature, as well as increased prevalence of cardiorenal malformations and germ cell tumors [35,37]; otherwise, especially in the absence of additional, very long interstitial deletions, mosaic subjects are normal males, and their phenotypes are mainly related to the extension of Y-linked terminal lost sequences and to the total amount of aberrant cells.…”

Section: Chromosome Rings and Isodicentric Chromosomesmentioning

confidence: 96%

“…Among all mosaic patients, those with a male phenotype are characterized by bilaterally descended testes and represent 11-12% of the total [35][36][37]. The diagnosis of male mosaic patients usually occurs during fertility evaluations, upon discovery of azoospermia and elevated serum gonadotropins levels, consistent with testicular function failure [30].…”

Section: Mosaicsmentioning

confidence: 99%

The Role of Number of Copies, Structure, Behavior and Copy Number Variations (CNV) of the Y Chromosome in Male Infertility

Signore

Gulìa

Votino

et al. 2019

Genes

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The World Health Organization (WHO) defines infertility as the inability of a sexually active, non-contracepting couple to achieve spontaneous pregnancy within one year. Statistics show that the two sexes are equally at risk. Several causes may be responsible for male infertility; however, in 30-40% of cases a diagnosis of idiopathic male infertility is made in men with normal urogenital anatomy, no history of familial fertility-related diseases and a normal panel of values as for endocrine, genetic and biochemical markers. Idiopathic male infertility may be the result of gene/environment interactions, genetic and epigenetic abnormalities. Numerical and structural anomalies of the Y chromosome represent a minor yet significant proportion and are the topic discussed in this review. We searched the PubMed database and major search engines for reports about Y-linked male infertility. We present cases of Y-linked male infertility in terms of (i) anomalies of the Y chromosome structure/number; (ii) Y chromosome misbehavior in a normal genetic background; (iii) Y chromosome copy number variations (CNVs). We discuss possible explanations of male infertility caused by mutations, lower or higher number of copies of otherwise wild type, Y-linked sequences. Despite Y chromosome structural anomalies are not a major cause of male infertility, in case of negative results and of normal DNA sequencing of the ascertained genes causing infertility and mapping on this chromosome, we recommend an analysis of the karyotype integrity in all cases of idiopathic fertility impairment, with an emphasis on the structure and number of this chromosome.

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A Clinical and Cytogenetic Study of Fifteen Patients with 45,X/46,XY Gonadal Dysgenesis

Cited by 62 publications

References 10 publications

Management of Males with 45,X/46,XY Gonadal Dysgenesis

Management of Males with 45,X/46,XY Gonadal Dysgenesis

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

The Role of Number of Copies, Structure, Behavior and Copy Number Variations (CNV) of the Y Chromosome in Male Infertility

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