48,XXYY syndrome presenting with long-term infertility and newly observed neck deformities: a case report (original) (raw)
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46,XX males: a case series based on clinical and genetics evaluation
Andrologia, 2016
46,XX male sex reversal syndrome is one of the rarest sex chromosomal aberrations. The presence of SRY gene on one of the X chromosomes is the most frequent cause of this syndrome. Based on Y chromosome profile, there are SRY-positive and SRYnegative forms. The purpose of our study was to report first case series of Iranian patients and describe the different clinical appearances based on their genetic component. From the 8,114 azoospermic and severe oligozoospermic patients referred to Royan institute, we diagnosed 57 cases as sex reversal patients. Based on the endocrinological history, we performed karyotyping, SRY and AZF microdeletion screening. Patients had a female karyotype. According to available hormonal reports of 37 patients, 16 cases had low levels of testosterone (43.2%). On the other hand, 15 males were SRY positive (90.2%), while they lacked the spermatogenic factors encoding genes on Yq. Commencing the testicular differentiation in males, the SRY gene is considered to be very important in this process. Due to homogeneous results of karyotyping and AZF deletion, there are both positive and negative SRY cases that show similar sex reversal phenotypes. Evidences show that there could be diverse phenotypic differences that could be raised from various reasons.
47, XYY syndrome is one of the most common sex chromosomal anomaly found in humans after Klinfelter syndrome (47, XXY). It is frequently associated with infertility in males. This syndrome has an extra Y chromosome (XYY) due to non-disjunction of the Y chromosome in paternal meiotic II. The presence of an extra Y chromosome causes hormonal disbalance in the gonads that responsible for abnormal function of human chorionic gonadotropin. In the present study two cases of infertile men with severe oligozoospermia and azoospermia that also confirm by conventional cytogenetic analysis of the peripheral blood lymphocytes revealed the constitutional karyotype of 47, XYY. This report is likely to be helpful for counselling and early management of such infertile males.
A Rare Cause of Infertility: 48XXYY Syndrome
GRAND JOURNAL OF UROLOGY
In the evaluation of a 32-year-old male patient who was referred to our clinic with the complaint of gynecomastia and primary infertility, ennuchoid structure, hypergonadotropic hypogonadism, and azoospermia were detected. Based on these findings, the genetic evaluation revealed the presence of 48XXYY syndrome. In this case report, we aimed to report the diagnostic algorithm and management of 48 XXYY syndrome. It should be noted that fertility should not be expected in patients with 48XXYY syndrome.
47,XYY Syndrome and Male Infertility
Reviews in urology, 2013
Men with 47,XYY syndrome present with varying physical attributes and degrees of infertility. A retrospective chart review was performed on a male infertility and genetic anomaly database. Three patients with 47,XYY were found. Each presented with > 2 years of infertility. All were tall with elevated body mass indices. Scrotal findings ranged from normal to atrophic testicles. Semen analyses demonstrated oligospermia and varying endocrine profiles. Because of the diverse phenotype and potential lack of symptoms, identification and diagnosis of men with 47,XYY syndrome may be difficult. We recommend careful screening of 47,XYY patients and referral to primary physicians for long-term follow-up for increased incidence of health-related comorbidities.
46 XX karyotype during male fertility evaluation; case series and literature review
Asian journal of andrology, 2016
Forty-six XX disorder of sex development is an uncommon medical condition observed at times during the evaluation of a man's fertility. The following is a case series and literature review of phenotypically normal men diagnosed with this karyotype. Our goal is to comprehend the patients' clinical presentation as well as their laboratory results aiming to explore options available for their management. A formal literature review through PubMed and MEDLINE databases was performed using "46 XX man" as a word search. A total of 55 patients, including those conveyed in this article were diagnosed with a 46 XX karyotype during their fertility evaluation. The patients' mean age ± s.d. was 34 ± 10 years and their mean height ± s.d. was 166 ± 6.5 cm. Overall, they presented with hypergonadotropic hypogonadism. Sexual dysfunction, reduced hair distribution, and gynecomastia were reported in 20% (4/20), 25.8% (8/31), and 42% (13/31) of the patients, respectively. The SRY ...
A female with 46, XY Disorder of Sexual Development with normal SRY gene sequence: A case report
Background: Disorders of sex development (DSD) are a medical condition that affects the normal process of sexual Various of the genes needed for gonad development have been identified by investigation of patients with disorders sex development (DSD).Phenotypes of patients with 46,XY DSD range from atonalism in female phenotype with complete external genitalia to male phenotype with testicular regression. Individuals with 46,XYagonadiam show a wide range of clinical features and in some cases, there is not a clear diagnosis for this patients. We presented the clinical and molecular study a patient with 46,XY female without gonadal tissue. Case presentation: A 27-year-old female was attended to our center because of primary amenorrhea. Ultrasonography did not show gonadal tissue including Mullerian structures, uterus, and Wolffian structures. Also, the patient had not streak gonad. We performed cytogenetic study and molecular analysis, including automated sequencing of the entire coding region of SRY gene, in the patient with agonadism. Our result showed 46,XY karyotype. Also, we noticed that molecular mutations in SRY are not identified as a cause of DSD female without a gonadal tissue. Laboratory examination showed that this case is a unique patient with 46,XYfemale agonadism that has no association with previously described. Conclusions: The present case was a patient with 46, XYagonadism without hormonal or kidney defect and we did not detect mutation in SRY gene. To our knowledge, this case is a unique patient with 46,XYagonadism that has no association with previously described. So this case would be helpful for clinicians to assess 46,XY female patients without gonadal tissue.
48 / Xxyy Male Case with Primary Infertility
International Journal of Health Services Research and Policy, 2020
Klinefelter syndrome is a sex chromosomal aneuploidies with at least one extra X chromosome than normal male karyotype. The classic form of the 47 / XXY karyotype, the incidence of this syndrome is one in 500-1000 live male births. The incidence of 48 / XXYY male individuals with many phenotypic features of Klinefelter syndrome is extremely rare and occurs in 1: 18000-1: 100.000 men. However, they differ from Klinefelter syndrome with serious behavioral problems, mental retardation and susceptibility to psychiatric diseases [1]. A 38-year-old man referred to our Medical Biology and Genetics laboratory for karyotype analysis with primary infertility. He had undergone varicocele surgery and had high levels of FSH, low levels of testosterone and high levels of LH. Semen analysis demonstrated azoospermia In the psychiatric examination of the patient, whose IQ level was 90, language, learning and behavior disorder were diagnosed. The patient with deep vein thrombosis was recommended angiography because of right heart failure. Karyotype analysis revealed with 48, XXYY. This rare case shows the importance of karyotype analysis in diagnosis. In this study, the clinical and laboratory findings of the case are presented with the literature.