A rare cause of male infertility: 45, X/46, XY Mosaicism

Akınsal, Emre Can; Baydilli, Numan; Bayramov, Ruslan; Ekmekçioğlu, Oğuz

doi:10.1016/s1569-9056(17)32125-5

Cited by 1 publication

(5 citation statements)

References 0 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…This led his primary care team to reconsider the possible diagnosis and involve other specialists who could take a different approach to the patient, leading to a new, higher resolution, karyotype that confirmed the diagnosis. Early diagnosis is fundamental for the management, not only of the genital alterations but also of the other possible alterations such as ophthalmologic, otic, cardiac, renal, or spinal [2, 3].…”

Section: Discussionmentioning

confidence: 99%

“…However, consensus suggests it should be transdisciplinary and be done according to the clinical characteristics of the patient. The literature describes corrective surgery, hormonal treatment, or follow-up to look for possible complications such as gonadal malignancy, considering that there is a 15-27% risk of gonadoblastoma in patients with mosaicism and female or ambiguous genitalia [3][4][5]. Nonetheless, there is no consensus in offering gonadectomy for all patients.…”

Section: Discussionmentioning

confidence: 99%

“…MGD exhibits many phenotypical presentations, varying from male phenotype with or without ambiguous genitalia to female phenotype with Turner syndrome features, such as short stature, impaired puberty, webbed neck, cubitus valgus, nevus, or low-set hairline [3-5]. They may also display cardiac, renal, endocrine, ophthalmologic, or hearing alterations and gonadal malignancies, particularly gonadoblastoma [3, 4]. It has been described that up to 95% of the patients with a prenatal diagnosis have a normal male phenotype at birth.…”

Section: Introductionmentioning

confidence: 99%

“…It has been described that up to 95% of the patients with a prenatal diagnosis have a normal male phenotype at birth. Postnatally, the most frequent findings are short stature and hormonal deficiency, and the undiagnosed cases in childhood are generally diagnosed in adulthood during infertility workup [2, 3, 5]. A patient with short stature, cryptorchidism, and hypospadias with a 45,X [13]/46,XY [7] karyotype is presented.…”

Section: Introductionmentioning

confidence: 99%

“…Gonadal dysgenesis refers to a group of clinical conditions with abnormal development of the gonads, and includes gonadal dysgenesis 46,XY, Turner syndrome (45,X), and mixed gonadal dysgenesis (MGD), defined as a mosaicism 45,X/46,XY [1]. The latter has been reported in 1.5-1.7 every 10,000 live births [2][3][4].…”

Section: Introductionmentioning

confidence: 99%

See 4 more Smart Citations

45,X/46,XY Mosaicism with Male Phenotype: Case Report

et al. 2021

View full text Add to dashboard Cite

Mixed gonadal dysgenesis is the most common chromosomal abnormality with ambiguous genitalia, defined as a 45,X/46,XY mosaicism. It can present with a normal male phenotype, ambiguous genitalia, or features of Turner syndrome. A 14-year-old patient was referred to the genetics clinic due to hypospadia, cryptorchidism, and aortic coarctation. During the physical examination, short stature, webbed neck, and Blashko lines on his back were noted. He had a previous karyotype reported as normal. However, due to an inadequate evolution and a low resolution on the previous test, a higher resolution karyotype was performed, identifying a mosaicism 45,X/46,XY. A multidisciplinary board examined the case, and follow-up with tumor markers was carried out to evaluate the presence of gonadoblastoma, one of the main complications in these patients. Treatment should be transdisciplinary and focused on the particular characteristics of each case. Other treatment alternatives include corrective surgery and hormonal therapy.

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%