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

Layman, Lawrence C.; Tho, Sandra P.T.; Clark, Andrew; Kulharya, Anita S.; McDonough, Paul G.

doi:10.1016/j.fertnstert.2007.12.078

Cited by 49 publications

(54 citation statements)

References 18 publications

(22 reference statements)

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“…But later on in adulthood, these patients usually develop infertility because of azoospermia or oligospermia, and elevated gonadotropins. 4,7,8 Our first patient had azoospermia with elevated gonadotropins, which are clearly signs of primary gonadal failure.…”

Section: Case Reportmentioning

confidence: 90%

45,X/46,XY mosaicism: a cause of short stature in males

Efthymiadou¹,

Stefanou²,

Chrysis³

2012

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45,X/46,XY mosaicism is associated with a broad spectrum of phenotypes ranging from apparently normal male development to individuals with incomplete sexual differentiation and clinical signs of Turner syndrome in both males and females. The most common presentation among individuals with a 45,X/46,XY karyotype is sexual ambiguity, accounting for approximately 60% of cases, while the least common category of 45,X/46,XY patients consists of those with bilaterally descended testes, found in 11-12%. We report on two patients with an apparently normal male phenotype and 45,X/46,XY mosaicism who were diagnosed postnatally because of short stature. Both of these boys presented at the age of 15 years with short stature, minor Turner-like stigmata, normal male external genitalia and spontaneous pubertal development. One of them had coarctaction of the aorta with bicuspid aortic valve, an uncommon clinical feature in boys with mosaicism. The same patient underwent a trial of GH replacement therapy with poor response and his sperm analysis revealed azoospermia. Like our patients, most mosaic 45,X/46,XY children with bilateral scrotal testes go unrecognised at birth and throughout childhood unless they have somatic features of Turner syndrome or significant growth retardation. We recommend that boys with otherwise unexplained short stature, being short for their families, should be karyotyped routinely as is recommended in short-stature girls. In addition, boys with 45,X/46,XY mosaicism require a thorough clinical evaluation similar to that performed in girls with Turner syndrome and must be routinely followed up for their potential to respond favorably to GH treatment and for late onset abnormalities, such as infertility and gonadal tumors.

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Section: Case Reportmentioning

confidence: 90%

45,X/46,XY mosaicism: a cause of short stature in males

Efthymiadou¹,

Stefanou²,

Chrysis³

2012

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“…This part of the spectrum is seen as an undiscovered field because data including incidence, fertility potential, risk of malignancy, and endocrinological status are limited. Only 3 cases presented in a series of 27 cases [5] and 25 cases [4]. The ratio of this interesting subgroup may be higher.…”

Section: Discussionmentioning

confidence: 99%

“…45,X/46,XY mosaicism is one of the rare chromosomal alterations and individuals with 45,X/46,XY mosaicism are detected in 1.7/10,000 newborns [3]. The phenotypic spectrum of this mosaicism is wide and the patients present as males with different degrees of genital ambiguity or as females with Turner stigmata and ambiguous genitalia [4]. Cardiovascular or renal disorders and gonadal malignancies are often seen in these individuals.…”

Section: Introductionmentioning

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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“…[5][6][7] Associated characteristics include cardio renal malformations, gonadal blastomas and germ cell tumours. The phenotype of these patients tends to vary, but can be somewhat predicted based upon location and extent of gonadal development.…”

Section: Introductionmentioning

confidence: 99%

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

Flannigan

Chow

et al. 2014

CUAJ

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Infertility is common among couples, about one third of cases are the result of solely male factors, and rarely abnormalities of genetic karyotypes are the root cause. Individuals with a 45X,/46,XY mosaiscism are rare in the literature and very few have fertile potential. We discuss a case of a 27-year-old male with known mixed gonadal dysgenesis, 50:50 split mosaiscism of 45,X/46,XY, presenting for evaluation of 1.5 year history of infertility. He demonstrated low volume non-obstructive azoospermia. Upon testicular biopsy, spermatozoa were extracted. These sperm were subjected to aneuploidy studies demonstrating 95.95% euploidy. The sperm were further assessed and placed in cryopreservation after being deemed sufficient for potential intracytoplasmic sperm injection. This is a unique case of viable sperm in a man with mixed gonadal dysgenesis, 45,X/46,XY mosaiscism.

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

Cited by 49 publications

References 18 publications

45,X/46,XY mosaicism: a cause of short stature in males

45,X/46,XY mosaicism: a cause of short stature in males

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

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

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